bioRxiv Channel: The Michael J. Fox Foundation
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Structural basis for feedforward control in the PINK1/parkin pathway
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https://biorxiv.org/cgi/content/short/2021.08.16.456440v1?rss=1"
Sauve, V.Sung, G.MacDougall, E.Kozlov, G.Saran, A.Fakih, R.Fon, E. A.Gehring, K.2021-08-17doi:10.1101/2021.08.16.456440Cold Spring Harbor Laboratory Press2021-08-17
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Single molecule fingerprinting reveals different amplification properties of α-synuclein oligomers and preformed fibrils in seeding assay.
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https://biorxiv.org/cgi/content/short/2021.08.09.455607v1?rss=1"
Lau, D.Magnan, C.Hill, K.Cooper, A.Gambin, Y.Sierecki, E.2021-08-09doi:10.1101/2021.08.09.455607Cold Spring Harbor Laboratory Press2021-08-09
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Structure of PINK1 reveals autophosphorylation dimer and provides insights into binding to the TOM complex
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https://biorxiv.org/cgi/content/short/2021.08.05.455304v1?rss=1"
Rasool, S.Veyron, S.Soya, N.Eldeeb, M.Lukacs, G.Fon, E. A.Trempe, J.-F.2021-08-05doi:10.1101/2021.08.05.455304Cold Spring Harbor Laboratory Press2021-08-05
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Proteome Profiling of Cerebrospinal Fluid Reveals Novel Biomarker Candidates for Parkinson's Disease
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https://biorxiv.org/cgi/content/short/2021.07.22.453322v1?rss=1"
Karayel, O.Virreira Winter, S.Padmanabhan, S.Kuras, Y. I.Vu, D. T.Tuncali, I.Merchant, K.Wills, A.-M.Scherzer, C. R.Mann, M.2021-07-23doi:10.1101/2021.07.22.453322Cold Spring Harbor Laboratory Press2021-07-23
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Dopaminergic axon tracts within a hyaluronic acid hydrogel encasement for implantation to restore the nigrostriatal pathway
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https://biorxiv.org/cgi/content/short/2021.07.03.451006v1?rss=1"
Gordian-Velez, W. J.Browne, K. D.Galarraga, J. H.Duda, J. E.Espana, R. A.Chen, H. I.Burdick, J. A.Cullen, D. K.2021-07-04doi:10.1101/2021.07.03.451006Cold Spring Harbor Laboratory Press2021-07-04
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PALB2 maintains redox and mitochondrial homeostasis in the brain and cooperates with ATG7 to suppress p53 dependent neurodegeneration
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https://biorxiv.org/cgi/content/short/2021.06.07.447248v1?rss=1"
Huo, Y.Sawant, A.Tan, Y.Mahdi, A. H.Li, T.Ma, H.Bhatt, V.Yan, R.Coleman, J.Dreyfus, C. F.Guo, J. Y.Mouradian, M. M.White, E.Xia, B.2021-06-07doi:10.1101/2021.06.07.447248Cold Spring Harbor Laboratory Press2021-06-07
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FILER: large-scale, harmonized FunctIonaL gEnomics Repository
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https://biorxiv.org/cgi/content/short/2021.01.22.427681v1?rss=1"
50,000 harmonized, annotated functional genomic and annotation datasets across >20 integrated data sources, >1,100 biological conditions/tissues/cell types, and >20 experimental assays; 2) a scalable, indexing-based genomic querying interface; 3) ability for users to analyze and annotate their own experimental data against reference datasets. This rich resource spans >17 Billion genomic records for both GRCh37/hg19 and GRCh38/hg38 genome builds. FILER scales well with the experimental (query) data size and the number of reference datasets and data sources. When evaluated on large-scale analysis tasks, FILER demonstrated great efficiency as the observed running time for querying 1000x more genomic intervals (106 vs. 103) against all 7x109 hg19 FILER records increased sub-linearly by only a factor of 15x. Together, these features facilitate reproducible research and streamline querying, integrating, and utilizing large-scale functional genomics and annotation data.
Availability and implementationFILER can be 1) freely accessed at https://lisanwanglab.org/FILER, 2) deployed on cloud or local servers (https://bitbucket.org/wanglab-upenn/FILER), and 3) integrated with other pipelines using provided scripts.
Contactlswang@pennmedicine.upenn.edu
]]>Kuksa, P. P. P.Gangadharan, P.Katanic, Z.Kleidermacher, L.Amlie-Wolf, A.Lee, C.-Y.Greenfest-Allen, E.Valladares, O.Leung, Y. Y.Wang, L.-S.2021-01-25doi:10.1101/2021.01.22.427681Cold Spring Harbor Laboratory Press2021-01-25
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The Foundational data initiative for Parkinsons disease (FOUNDIN-PD): enabling efficient translation from genetic maps to mechanism
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https://biorxiv.org/cgi/content/short/2021.06.03.446785v1?rss=1"
Bressan, E.Reed, X.Bansal, V.Hutchins, E.Cobb, M. M.Webb, M. G.Alsop, E.Grenn, F. P.Illarionova, A.Savytska, N.Violich, I.Broeer, S.Fernandes, N.Sivakumar, R.Beilina, A.Billingsley, K.Berghausen, J.Pantazis, C. B.Meechoovet, B.Reiman, R.Courtright-Lim, A.Logemann, A.Antone, J.Barch, M.Kitchen, R.Li, Y.Dalgard, C. L.The American Genome Center,Rizzu, P.Hernandez, D. G.Hjelm, B. E.Nalls, M. A.Gibbs, J. R.Finkbeiner, S.Cookson, M. R.Van Keuren-Jensen, K.Craig, D. W.Singleton, A. B.Heutink, P.Blauwendraat, C.2021-06-03doi:10.1101/2021.06.03.446785Cold Spring Harbor Laboratory Press2021-06-03
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Chemoproteomic-enabled characterization of small GTPase Rab1a as a target of an N-arylbenzdiimidazole ligand's rescue of Parkinson's-associated cell toxicity
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https://biorxiv.org/cgi/content/short/2021.05.05.442776v1?rss=1"
Hatstat, A. K.Quan, B.Bailey, M.Fitzgerald, M. C.Reinhart, M. C.McCafferty, D. G.2021-05-05doi:10.1101/2021.05.05.442776Cold Spring Harbor Laboratory Press2021-05-05
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Establishing gene regulatory networks from Parkinson's disease risk loci
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https://biorxiv.org/cgi/content/short/2021.04.08.439080v1?rss=1"
1Mb, or on different chromosomes). Of particular interest is the identification of a novel trans-eQTL-gene connection between rs10847864 and SYNJ1 in the adult brain cortex, highlighting a convergence between familial studies and PD GWAS loci for SYNJ1 (PARK20) for the first time. Furthermore, we identified 16 neuro-development specific eQTL-gene regulatory connections within the foetal cortex, consistent with hypotheses suggesting a neurodevelopmental involvement in the pathogenesis of PD. Through utilising Louvain clustering we extracted nine significant and highly intra-connected clusters within the entire gene regulatory network. The nine clusters are enriched for specific biological processes and pathways, some of which have not previously been associated with PD. Together, our results not only contribute to an overall understanding of the mechanisms and impact of specific combinations of PD-SNPs, but also highlight the potential impact gene regulatory networks may have when elucidating aetiological subtypes of PD.
]]>Farrow, S. L.Schierding, W.Gokuladhas, S.Golovina, E.Fadason, T. M.Cooper, A. A.O'Sullivan, J. M.2021-04-09doi:10.1101/2021.04.08.439080Cold Spring Harbor Laboratory Press2021-04-09
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Global ubiquitylation analysis of mitochondria in primary neurons identifies physiological Parkin targets following activation of PINK1
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https://biorxiv.org/cgi/content/short/2021.04.01.438131v1?rss=1"
Antico, O.Ordureau, A.Stevens, M.Singh, F.Gierlinski, M.Barini, E.Rickwood, M.Prescott, A. R.Toth, R.Ganley, I.Harper, W.Muqit, M.2021-04-01doi:10.1101/2021.04.01.438131Cold Spring Harbor Laboratory Press2021-04-01
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A bidirectional Mendelian randomization study of glycemic and anthropometric traits and Parkinsons disease
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https://biorxiv.org/cgi/content/short/2020.03.31.017566v1?rss=1"
Grover, S.Graf, R.Noyce, A.International Parkinsons Disease Genomics Consortium (IPDGC),Sharma, M.2020-04-01doi:10.1101/2020.03.31.017566Cold Spring Harbor Laboratory Press2020-04-01
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Multi-Modality Machine Learning Predicting Parkinsons Disease
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https://biorxiv.org/cgi/content/short/2021.03.05.434104v1?rss=1"
Makarious, M. B.Leonard, H. L.Vitale, D.Iwaki, H.Sargent, L.Dadu, A.Violich, I.Hutchins, E.Saffo, D.Bandres-Ciga, S.Kim, J. J.Song, Y.Bookman, M.Nojopranoto, W.Campbell, R. H.Hashemi, S. H.Botia, J. A.Carter, J. F.Maleknia, M.Craig, D. W.Keuren-Jensen, K. V.Morris, H. R.Hardy, J. A.Blauwendraat, C.Singleton, A. B.Faghri, F.Nalls, M. A.Accelerating Medicines Program - Parkinsons Disease (AMP PD),Global Parkinsons Genetics Program (GP2),2021-03-07doi:10.1101/2021.03.05.434104Cold Spring Harbor Laboratory Press2021-03-07
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Transparent exploration of machine learning for biomarker discovery from proteomics and omics data
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https://biorxiv.org/cgi/content/short/2021.03.05.434053v1?rss=1"
View larger version (32K):
org.highwire.dtl.DTLVardef@7b95corg.highwire.dtl.DTLVardef@11a5357org.highwire.dtl.DTLVardef@15586c2org.highwire.dtl.DTLVardef@2357f_HPS_FORMAT_FIGEXP M_FIG C_FIG HighlightsO_LIOmicLearn is an open-source platform allows researchers to apply machine learning (ML) for biomarker discovery
C_LIO_LIThe ready-to-use structure of OmicLearn enables accessing state-of-the-art ML algorithms without requiring any prior bioinformatics knowledge
C_LIO_LIOmicLearns web-based interface provides an easy-to-follow platform for classification and gaining insights into the dataset
C_LIO_LISeveral algorithms and methods for preprocessing, feature selection, classification and cross-validation of omics datasets are integrated
C_LIO_LIAll results, settings and method text can be exported in publication-ready formats
C_LI
]]>Strauss, M. T.Torun, F. M.Virreira Winter, S.Doll, S.Riese, F. M.Vorobyev, A.Müller-Reif, J. B.Geyer, P. E.2021-03-06doi:10.1101/2021.03.05.434053Cold Spring Harbor Laboratory Press2021-03-06
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Pathogenic LRRK2 control of primary cilia and Hedgehog signaling in neurons and astrocytes of mouse brain
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https://biorxiv.org/cgi/content/short/2021.03.02.433576v1?rss=1"
Khan, S. S.Sobu, Y.Dhekne, H. S.Tonelli, F.Berndsen, K.Alessi, D. R.Pfeffer, S. R.2021-03-02doi:10.1101/2021.03.02.433576Cold Spring Harbor Laboratory Press2021-03-02
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Understanding LRRK2 kinase activity in preclinical models and human subjects through quantitative analysis of LRRK2 and pRab10
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https://biorxiv.org/cgi/content/short/2021.02.23.432545v1?rss=1"
Wang, X.Negrou, E.Maloney, M. T.Bondar, V. V.Andrews, S. V.Montalban, M.Llapashtica, C.Maciuca, R.Nguyen, H.Solanoy, H.Arguello, A.Przybyla, L.Moerke, N. J.Huntwork-Rodriguez, S.Henry, A. G.2021-02-23doi:10.1101/2021.02.23.432545Cold Spring Harbor Laboratory Press2021-02-23
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Investigation of USP30 inhibition to enhance Parkin-mediated mitophagy: tools and approaches
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https://biorxiv.org/cgi/content/short/2021.02.02.429344v1?rss=1"
Ketteler, R.Tsefou, E.Walker, A. S.Clark, E. H.Hicks, A. R.Luft, C.Takeda, K.Watanabe, T.Ramazio, B.Staddon, J. M.Briston, T.2021-02-02doi:10.1101/2021.02.02.429344Cold Spring Harbor Laboratory Press2021-02-02
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Association of a common genetic variant with Parkinson's disease is propagated through microglia
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https://biorxiv.org/cgi/content/short/2021.01.15.426824v1?rss=1"
Langston, R.Beilina, A.Reed, X.Singleton, A.Blauwendraat, C.Gibbs, J. R.Cookson, M. R.2021-01-17doi:10.1101/2021.01.15.426824Cold Spring Harbor Laboratory Press2021-01-17
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The role of water mobility in protein misfolding
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https://biorxiv.org/cgi/content/short/2021.01.06.425575v1?rss=1"
Stephens, A. D.Kolbel, J.Moons, R.Ruggerio, M. T.Mahmoudi, N.Shmool, T. A.McCoy, T. M.Nietlispach, D.Routh, A. F.Sobott, F.Zeitler, J. A.Kaminski Schierle, G. S.2021-01-09doi:10.1101/2021.01.06.425575Cold Spring Harbor Laboratory Press2021-01-09
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Deciphering the LRRK code: LRRK1 and LRRK2 phosphorylate distinct Rab proteins and are regulated by diverse mechanisms
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https://biorxiv.org/cgi/content/short/2020.11.25.397836v1?rss=1"
Malik, A. U.Karapetsas, A.Nirujogi, R. S.Mathea, S.Pal, P.Lis, P.Taylor, M.Purlyte, E.Gourlay, R.Dorward, M.Weidlich, S.Toth, R.Knapp, S.Tonelli, F.Alessi, D. R.2020-11-25doi:10.1101/2020.11.25.397836Cold Spring Harbor Laboratory Press2020-11-25
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Development of a multiplexed targeted mass spectrometry assay for LRRK2 phosphorylated Rabs and Ser910/Ser935 biomarker sites
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https://biorxiv.org/cgi/content/short/2020.11.23.394486v1?rss=1"
Nirujogi, R. S.Tonelli, F.Taylor, M.Lis, P.Zimprich, A.Sammler, E.Alessi, D. R.2020-11-23doi:10.1101/2020.11.23.394486Cold Spring Harbor Laboratory Press2020-11-23
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Age-Associated Insolubility of Parkin in Human Midbrain is Linked to Redox Balance and Sequestration of Reactive Dopamine Metabolites
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https://biorxiv.org/cgi/content/short/2020.11.20.392175v1?rss=1"
Tokarew, J. M.El Kodsi, D. N.Lengacher, N. A.Fehr, T. K.Nguyen, A. P.Shutinoski, B.O'Nuallain, B.Jin, M.Khan, J.Ng, A. C. H.Li, J.Jiang, Q.Zhang, M.Wang, L.Sengupta, R.Barber, K.Tran, A.Zandee, S.Dong, X.Scherzer, C. R.Prat, A.Tsai, E.Takanashi, M.Hattori, N.Chan, J. A.Zecca, L.West, A.Holmgren, A.Puente, L.Shaw, G. S.Toth, G.Woulfe, J.Taylor, P.Tomlinson, J. J.Schlossmacher, M. G.2020-11-21doi:10.1101/2020.11.20.392175Cold Spring Harbor Laboratory Press2020-11-21
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Bioinformatic and computational analysis reveals the prevalence and nature of PY motif-mediated protein-protein interactions in the Nedd4 family of ubiquitin ligases
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https://biorxiv.org/cgi/content/short/2020.11.12.380584v1?rss=1"
Hatstat, A. K.Pupi, M. D.McCafferty, D. G.2020-11-12doi:10.1101/2020.11.12.380584Cold Spring Harbor Laboratory Press2020-11-12
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The industrial solvent trichloroethylene induces LRRK2 kinase activity and dopaminergic neurodegeneration in a rat model of Parkinson's disease
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https://biorxiv.org/cgi/content/short/2020.11.02.365775v1?rss=1"
Castro, S. L.Rocha, E. M.Bodle, C. R.Johnson, K. E.Greenamyre, J. T.De Miranda, B. R.2020-11-03doi:10.1101/2020.11.02.365775Cold Spring Harbor Laboratory Press2020-11-03
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echolocatoR: an automated end-to-end statistical and functional genomic fine-mapping pipeline
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https://biorxiv.org/cgi/content/short/2020.10.22.351221v1?rss=1"
Schilder, B. M.Humphrey, J.Raj, T.2020-10-23doi:10.1101/2020.10.22.351221Cold Spring Harbor Laboratory Press2020-10-23
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Fine-mapping of Parkinson's disease susceptibility loci identifies putative causal variants
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https://biorxiv.org/cgi/content/short/2020.10.22.340158v1?rss=1"
Schilder, B. M.Raj, T.2020-10-22doi:10.1101/2020.10.22.340158Cold Spring Harbor Laboratory Press2020-10-22
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The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity
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https://biorxiv.org/cgi/content/short/2020.10.21.336578v1?rss=1"
Stormo, A. E. D.FitzGibbon, M.Shavarebi, F.Earley, E. M.Lum, L. S.Verschueren, E.Swaney, D. L.Skibinski, G.Ravisankar, A.van Haren, J.Davis, E. J.Johnson, J. R.Von Dollen, J.Mirescu, C.Iaccarino, C.Dauer, W. T.Nichols, R. J.Wittmann, T.Cox, T. C.Finkbeiner, S.Krogan, N. J.Oakes, S. A.Hiniker, A.2020-10-21doi:10.1101/2020.10.21.336578Cold Spring Harbor Laboratory Press2020-10-21
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Tau pathology spreads between anatomically-connected regions of the brain and is modulated by a LRRK2 mutation
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https://biorxiv.org/cgi/content/short/2020.10.13.337857v1?rss=1"
Henderson, M.Cornblath, E. J.Li, H. L.Changolkar, L.Zhang, B.Brown, H. J.Gathagan, R. J.Olufemi, M. F.Bassett, D. S.Trojanowski, J. Q.Lee, V. M. Y.2020-10-14doi:10.1101/2020.10.13.337857Cold Spring Harbor Laboratory Press2020-10-14
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Catechol-Containing Compounds are a Broad Class of Amyloid Inhibitors: I. Redox State is a Key Determinant of the Activities of the Inhibitory Activities
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https://biorxiv.org/cgi/content/short/2020.10.08.873620v1?rss=1"
Velander, P.Wu, L.Hildreth, S. B.Vogelaar, N. J.Mukhopadhyay, B.Zhang, S.Helm, R. F.Xu, B.2020-10-08doi:10.1101/2020.10.08.873620Cold Spring Harbor Laboratory Press2020-10-08
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Discovery of the first selective M4 muscarinic acetylcholine receptor antagonists with in vivo anti-parkinsonian and anti-dystonic efficacy
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https://biorxiv.org/cgi/content/short/2020.10.12.324152v1?rss=1"
Moehle, M. S.Bender, A. M.Dickerson, J. W.Foster, D. J.Donsante, Y.Peng, W.Bryany, Z. K.Bridges, T. M.Chang, S.Watson, K. J.O'Neill, J. C.Engers, J. L.Peng, L.Rodriguez, A.Niswender, C. M.Lindsley, C. W.Conn, P. J.Rook, J. M.2020-10-12doi:10.1101/2020.10.12.324152Cold Spring Harbor Laboratory Press2020-10-12
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Rab29 knock-out or transgenic overexpression does not impact basal LRRK2 activity in wildtype and pathogenic mouse and cell line models
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https://biorxiv.org/cgi/content/short/2020.06.08.139675v1?rss=1"
Kalogeropulou, A. F.Lis, P.Polinski, N. K.Alessi, D. R.2020-06-09doi:10.1101/2020.06.08.139675Cold Spring Harbor Laboratory Press2020-06-09
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PKA-mediated phosphorylation of SPG11/spatacsin regulates binding with a subset of 14-3-3 proteins
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https://biorxiv.org/cgi/content/short/2020.09.09.289009v1?rss=1"
Cogo, S.Tomkins, J. E.Vavouraki, N.Forcellato, F.Franchin, C.Tessari, I.Arrigoni, G.Cendron, L.Manzoni, C.Civiero, L.Lewis, P. A.Greggio, E.2020-09-10doi:10.1101/2020.09.09.289009Cold Spring Harbor Laboratory Press2020-09-10
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A robust and versatile nanobody platform for drug delivery
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https://biorxiv.org/cgi/content/short/2020.08.19.257725v1?rss=1"
Shen, Z.Xiang, Y.Vergara, S.Chen, A.Xiao, Z.Santiago, U.Jin, C.Sang, Z.Luo, J.Chen, K.Schneidman-Duhovny, D.Camacho, C. J.Calero, G.Hu, B.Shi, Y.2020-08-20doi:10.1101/2020.08.19.257725Cold Spring Harbor Laboratory Press2020-08-20
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Urinary proteome profiling for stratifying patients with familial Parkinsons disease
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https://biorxiv.org/cgi/content/short/2020.08.09.243584v1?rss=1"
Virreira Winter, S.Karayel, O.Strauss, M. T.Padmanabhan, S.Surface, M.Merchant, K.Alcalay, R. N.Mann, M.2020-08-10doi:10.1101/2020.08.09.243584Cold Spring Harbor Laboratory Press2020-08-10
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Pathogenic LRRK2 R1441C mutation is associated with striatal alterations
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https://biorxiv.org/cgi/content/short/2020.03.11.986455v1?rss=1"
Xenias, H.Chen, C.Kang, S.Shanmugasundaram, B.Cherian, S.Situ, X.Scesa, G.Chan, C. S.Parisiadou, L.2020-03-12doi:10.1101/2020.03.11.986455Cold Spring Harbor Laboratory Press2020-03-12
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Modeling Alpha-Synuclein Pathology in a Human Brain-Chip to Assess Blood-Brain Barrier Disruption in Parkinson's Disease
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https://biorxiv.org/cgi/content/short/2020.07.22.207340v1?rss=1"
Pediaditakis, I.Kodella, K. R.Manatakis, D. V.Hinojosa, C. D.Manolakos, E. S.Rubin, L. L.Hamilton, G. A.Karalis, K.2020-07-24doi:10.1101/2020.07.22.207340Cold Spring Harbor Laboratory Press2020-07-24
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Discordant transcriptional signatures of mitochondrial genes in Parkinson's disease human myeloid cells
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https://biorxiv.org/cgi/content/short/2020.07.20.212407v1?rss=1"
Navarro, E.Udine, E.de Paiva Lopes, K.Parks, M.Riboldi, G.Schilder, B. M.Humphrey, J.Snijders, G. J. L.Vialle, R. A.Zhuang, M.Sikder, T.Argyrou, C.Allan, A.Chao, M.Farrell, K.Henderson, B.Simon, S.Raymond, D.Elango, S.Ortega, R. A.Shanker, V.Swan, M.Zhu, C.Ramdhani, R.Walker, R. H.Tse, W.Sano, M.Pereira, A. C.Ahfeldt, T.Goate, A. M.Bressman, S.Crary, J. F.de Witte, L.Frucht, S.Saunders-Pullman, R.Raj, T.2020-07-22doi:10.1101/2020.07.20.212407Cold Spring Harbor Laboratory Press2020-07-22
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Associations of Mitochondrial Genomic Variation with Corticobasal Degeneration, Progressive Supranuclear Palsy, and Neuropathological Tau Measures
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https://biorxiv.org/cgi/content/short/2020.07.10.196097v1?rss=1"
Rebecca R ValentinoNikoleta TamvakaMichael G HeckmanPatrick W JohnsonAlexandra I Soto-BeasleyRonald L WaltonShunsuke KogaRyan J UittiZbigniew K WszolekDennis W DicksonOwen A Ross2020-07-11doi:10.1101/2020.07.10.196097Cold Spring Harbor Laboratory Press2020-07-11
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LRRK2 G2019S kinase activity triggers neurotoxic NSF aggregation
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https://biorxiv.org/cgi/content/short/721266v1?rss=1"
Pischedda, F.Cirnaru, M. D.Ponzoni, L.Biosa, A.Carrion, M. P.Morari, M.Pan, L.Greggio, E.Bandopadhyay, R.Sala, M.Piccoli, G.2019-08-01doi:10.1101/721266Cold Spring Harbor Laboratory Press2019-08-01
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Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture
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https://biorxiv.org/cgi/content/short/2020.07.06.185066v1?rss=1"
Chia, R.Sabir, M. S.Bandres-Ciga, S.Saez-Atienzar, S.Reynolds, R. H.Gustavsson, E.Walton, R. L.Ahmed, S.Viollet, C.Ding, J.Makarious, M. B.Diez-Fairen, M.Portley, M. K.Shah, Z.Abramzon, Y.Hernandez, D. G.Blauwendraat, C.Stone, D. J.Eicher, J.Parkkinen, L.Ansorge, O.Clark, L.Honig, L. S.Marder, K.Lemstra, A.St. George-Hyslop, P.Londos, E.Morgan, K.Lashley, T.Warner, T. T.Jaunmuktane, Z.Galasko, D.Santana, I.Tienari, P.Myllykangas, L.Oinas, M.Cairns, N. J.Morris, J. C.Halliday, G. M.Van Deerlin, V. M.Trojanowski, J.2020-07-06doi:10.1101/2020.07.06.185066Cold Spring Harbor Laboratory Press2020-07-06
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Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
]]>
https://biorxiv.org/cgi/content/short/2020.06.26.174276v1?rss=1"
Alfradique-Dunham, I.Al-Ouran, R.von Coelln, R.Blauwendraat, C.Hill, E.Luo, L.Stillwell, A.Young, E.Tan, M.Liao, C.Hernandez, D.Pihlstrom, L.Grosset, D.Shulman, L. M.Liu, Z.Rouleau, G.International Parkinson's Disease Genomics Consortium,Nalls, M. A.Singleton, A.Morris, H.Jankovic, J.Shulman, J. M.2020-06-27doi:10.1101/2020.06.26.174276Cold Spring Harbor Laboratory Press2020-06-27
<![CDATA[
Distinct roles for RAB10 and RAB29 in pathogenic LRRK2-mediated endolysosomal trafficking alterations
]]>
https://biorxiv.org/cgi/content/short/2020.06.20.163063v1?rss=1"
Rivero-Rios, P.Romo-Lozano, M.Fernandez, B.Fdez, E.Hilfiker, S.2020-06-20doi:10.1101/2020.06.20.163063Cold Spring Harbor Laboratory Press2020-06-20
<![CDATA[
Characterization and validation of 15 α-synuclein conformation-specific antibodies using well-characterized preparations of α-synuclein monomers, fibrils and oligomers with distinct structures and morphology: How specific are the conformation-specific α-synuclein antibodies?
]]>
https://biorxiv.org/cgi/content/short/2020.06.15.151514v1?rss=1"
Kumar, S. T.Jagannath, S.Francois, C.Vanderstichele, H.Stoops, E.Lashuel, H. A.2020-06-15doi:10.1101/2020.06.15.151514Cold Spring Harbor Laboratory Press2020-06-15
<![CDATA[
Pathway-specific deregulation of striatal excitatory synapses in LRRK2 mutations
]]>
https://biorxiv.org/cgi/content/short/2020.01.03.894410v1?rss=1"
Chen, C.Soto, G.Bannon, N.Kang, S.Kozorovitskiy, Y.Parisiadou, L.2020-01-04doi:10.1101/2020.01.03.894410Cold Spring Harbor Laboratory Press2020-01-04
<![CDATA[
Observation of an α-synuclein liquid droplet state and its maturation into Lewy body-like assemblies
]]>
https://biorxiv.org/cgi/content/short/2020.06.08.140798v1?rss=1"
Hardenberg, M. C.Sinnige, T.Casford, S.Dada, S.Poudel, C.Robinson, L.Fuxreiter, M.Kaminski, C. F.Kaminski Schierle, G. S.Nollen, E. A. A.Dobson, C. M.Vendruscolo, M.2020-06-09doi:10.1101/2020.06.08.140798Cold Spring Harbor Laboratory Press2020-06-09
<![CDATA[
Influence of species and processing parameters on recovery and content of brain tissue-derived extracellular vesicles
]]>
https://biorxiv.org/cgi/content/short/2020.02.10.940999v1?rss=1"
Huang, Y.Cheng, L.Turchinovich, A.Mahairaki, V.Troncoso, J. C.Pletnikov, O.Haughey, N. J.Vella, L. J.Hill, A.Zheng, L.Witwer, K. W.2020-02-12doi:10.1101/2020.02.10.940999Cold Spring Harbor Laboratory Press2020-02-12
<![CDATA[
Characterization of small molecule induced changes in Parkinson's-related trafficking via the Nedd4 ubiquitin signaling cascade
]]>
https://biorxiv.org/cgi/content/short/2020.06.01.128348v1?rss=1"
Hatstat, A. K.Ahrendt, H. D.Foster, M. W.Mayne, L.Moseley, M. A.Englander, S. W.McCafferty, D. G.2020-06-02doi:10.1101/2020.06.01.128348Cold Spring Harbor Laboratory Press2020-06-02
<![CDATA[
Deep sncRNA-seq of the PPMI cohort to study Parkinson's disease progression
]]>
https://biorxiv.org/cgi/content/short/2020.06.01.127092v1?rss=1"
Kern, F.Fehlmann, T.Violich, I.Alsop, E.Hutchins, E.Kahraman, M.Grammes, N. L.Guimaraes, P.Backes, C.Poston, K.Casey, B.Balling, R.Geffers, L.Krueger, R.Galasko, D.Mollenhauer, B.Meese, E.Wyss-Coray, T.Craig, D. W.Van Keuren-Jensen, K.Keller, A.2020-06-01doi:10.1101/2020.06.01.127092Cold Spring Harbor Laboratory Press2020-06-01
<![CDATA[
Fast purification of recombinant monomeric amyloid-β from E. coli and amyloid-β-mCherry aggregates from mammalian cells
]]>
https://biorxiv.org/cgi/content/short/2020.05.13.093534v1?rss=1"
Stephens, A. D.Lu, M.Kaminski Schierle, G. S.2020-05-15doi:10.1101/2020.05.13.093534Cold Spring Harbor Laboratory Press2020-05-15
<![CDATA[
Purification of recombinant α-Synuclein: a comparison of commonly used protocols
]]>
https://biorxiv.org/cgi/content/short/2020.05.13.093286v1?rss=1"
Stephens, A. D.Matak-Vinkovic, D.Kaminski Schierle, G. S.2020-05-15doi:10.1101/2020.05.13.093286Cold Spring Harbor Laboratory Press2020-05-15
<![CDATA[
Protection from α-synuclein-induced dopaminergic neurodegeneration by overexpression of the mitochondrial import receptor TOM20 in the rat midbrain
]]>
https://biorxiv.org/cgi/content/short/2020.05.11.089078v1?rss=1"
De Miranda, B. R.Rocha, E. M.Castro, S.Greenamyre, J. T.2020-05-13doi:10.1101/2020.05.11.089078Cold Spring Harbor Laboratory Press2020-05-13
<![CDATA[
Large-scale pathway-specific polygenic risk, transcriptomic community networks and functional inferences in Parkinson disease
]]>
https://biorxiv.org/cgi/content/short/2020.05.05.079228v1?rss=1"
Bandres-Ciga, S.Saez-Atienzar, S.Kim, J. J.Makarious, M.Faghri, F.Diez-Fairen, M.Iwaki, H.Leonard, H.Botia, J. A.Ryten, M.Hernandez, D.Gibbs, R.Ding, J.Gan-Or, Z.Noyce, A.Pihlstrom, L.Torkamani, A.Scholz, S. W.Traynor, B.Ehrlich, D.Scherzer, C. R.Bookman, M.Cookson, M. R.Blauwendraat, C.Nalls, M. A.Singleton, A.International Parkinson's Disease Genomics Consortium,2020-05-06doi:10.1101/2020.05.05.079228Cold Spring Harbor Laboratory Press2020-05-06
<![CDATA[
Protein synthesis is suppressed in sporadic and familial Parkinson's Disease by LRRK2
]]>
https://biorxiv.org/cgi/content/short/2020.04.27.053694v1?rss=1"
Deshpande, P.Flinkman, D.Hong, Y.Goltseva, E.Siino, V.Sun, L.Peltonen, S.Elo, L.Kaasinen, V.James, P.Coffey, E. T.2020-04-28doi:10.1101/2020.04.27.053694Cold Spring Harbor Laboratory Press2020-04-28
<![CDATA[
LRRK2-phosphorylated Rab10 sequesters Myosin Va with RILPL2 during ciliogenesis blockade
]]>
https://biorxiv.org/cgi/content/short/2020.04.28.065664v1?rss=1"
Yanatori, I.Dhekne, H. S.Vides, E. G.Sobu, Y.Diez, F.Pfeffer, S. R.2020-04-28doi:10.1101/2020.04.28.065664Cold Spring Harbor Laboratory Press2020-04-28
<![CDATA[
Parkinson Disease-Linked Parkin Mediates Redox Reactions That Lower Oxidative Stress In Mammalian Brain
]]>
https://biorxiv.org/cgi/content/short/2020.04.26.062380v1?rss=1"
El Kodsi, D. N.Tokarew, J. M.Sengupta, R.Lengacher, N. A.Ng, A. C.Boston, H.Jiang, Q.Palmberg, C.Pileggi, C.Shutinoski, B.Li, J.Nguyen, A. P.Fehr, T. K.Im, D. S.Callaghan, S.Park, D. S.LaVoie, M. J.Chan, J. A.Takanashi, M.Hattori, N.Ratan, R. R.Zecca, L.Puente, L.Shaw, G. S.Harper, M.-E.Holmgren, A.Tomlinson, J. J.Schlossmacher, M. G.2020-04-27doi:10.1101/2020.04.26.062380Cold Spring Harbor Laboratory Press2020-04-27
<![CDATA[
A novel USP30 inhibitor recapitulates genetic loss of USP30 and sets the trigger for PINK1-PARKIN amplification of mitochondrial ubiquitylation.
]]>
https://biorxiv.org/cgi/content/short/2020.04.16.044206v1?rss=1"
Rusilowicz-Jones, E.Jardine, J.Kallinos, A.Pinto-Fernandez, A.Guenther, F.Giurrandino, M.Barone, F. G.McCarron, K.Burke, C. J.Murad, A.Martinez, A.Marcassa, E.Gersch, M.Buckmelter, A.Kayser-Bricker, K.Lamoliatte, F.Gajbhiye, A.Davis, S.Scott, H. C.Murphy, E.England, K.Mortiboys, H.Komander, D.Trost, M.Kessler, B. M.Ioannidis, S.Ahlijanian, M.Urbe, S.Clague, M. J.2020-04-20doi:10.1101/2020.04.16.044206Cold Spring Harbor Laboratory Press2020-04-20
<![CDATA[
Control of mammalian brain aging by the unfolded protein response (UPR)
]]>
https://biorxiv.org/cgi/content/short/2020.04.13.039172v1?rss=1"
Cabral Miranda, F.Tamburini, G.Martinez, G.Medinas, D.Gerakis, Y.Miedema, T.Duran-Aniotz, C.Ardilles, A.Ibaceta, C.Sabusap, C.Bermedo-Garcia, F.Adamson, S.Vitangcol, K.Huerta, H.Zhang, X.Nakamura, T.Sardi, P.Lipton, S.Kennedy, B.Cardenas, J. C.Palacios, A.Plate, L.Henriquez, J. P.Hetz, C.2020-04-14doi:10.1101/2020.04.13.039172Cold Spring Harbor Laboratory Press2020-04-14
<![CDATA[
Poly(ADP-ribose) induces α-synuclein aggregation in neuronal-like cells andinteracts with phosphorylated α-synuclein in post mortem PD samples
]]>
https://biorxiv.org/cgi/content/short/2020.04.08.032250v1?rss=1"
Puentes, L. N.Lengyel-Zhand, Z.Lee, J. Y.Hsieh, C.-J.Schneider, M. E.Edwards, K. J.Luk, K. C.Lee, V. M.- Y.Trojanowski, J. Q.Mach, R. H.2020-04-09doi:10.1101/2020.04.08.032250Cold Spring Harbor Laboratory Press2020-04-09
<![CDATA[
Pathogenic LRRK2 regulates ciliation probability upstream of Tau Tubulin kinase 2
]]>
https://biorxiv.org/cgi/content/short/2020.04.07.029983v1?rss=1"
Sobu, Y.Wawro, P. S.Dhekne, H. S.Pfeffer, S. R.2020-04-08doi:10.1101/2020.04.07.029983Cold Spring Harbor Laboratory Press2020-04-08
<![CDATA[
A Novel Method for Calculating Beta Band Burst Durations in Parkinson's Disease Using a Physiological Baseline
]]>
https://biorxiv.org/cgi/content/short/2020.03.25.008185v1?rss=1"
Anderson, R. W.Neuville, R. S.Kehnemouyi, Y. M.Anidi, C. M.Petrucci, M. N.Parker, J. E.Velisar, A.Bronte-Stewart, H. M.2020-03-26doi:10.1101/2020.03.25.008185Cold Spring Harbor Laboratory Press2020-03-26
<![CDATA[
PathoFact: A pipeline for the prediction of virulence factors and antimicrobial resistance genes in metagenomic data
]]>
https://biorxiv.org/cgi/content/short/2020.03.24.006148v1?rss=1"
de Nies, L.Lopes, S.Heintz-Buschart, A.Laczny, C. C.May, P.Wilmes, P.2020-03-25doi:10.1101/2020.03.24.006148Cold Spring Harbor Laboratory Press2020-03-25
<![CDATA[
Oxidative Modifications of Parkin Underlie its Selective Neuroprotection in Adult Human Brain
]]>
https://biorxiv.org/cgi/content/short/2020.02.19.953034v1?rss=1"
60 control specimens, we found that in adult human brain - but not in skeletal muscle- parkin is mostly aggregated and insoluble due to oxidative modifications, such as at C253. In vitro, parkins oxidation directly reduces hydrogen peroxide (H2O2) to water. In parkin-deficient human brain, H2O2 concentrations are elevated. In dopamine toxicity studies, wild-type parkin -but not disease-associated mutants-prevents neural death by lowering H2O2 and sequestering radicals within insoluble aggregates. Parkin conjugates dopamine metabolites at the human-specific residue C95 and augments melanin formation in vitro. Using epitope-mapped antibodies, we found that in adult Substantia nigra neurons parkin localizes to neuromelanin within LAMP-3/CD63-positive lysosomes. We conclude that parkins own oxidation, previously considered a loss-of-function event, underlies three neuroprotective effects in adult midbrain: its cysteines participate in H2O2 reduction, dopamine radical conjugation and the formation of neuromelanin.
]]>Tokarew, J. M.El-Kodsi, D. N.Lengacher, N. A.Fehr, T. K.Nguyen, A. P.O'Nuallain, B.Jin, M.Khan, J. M.Ng, A. C.-H.Li, J.Jiang, Q.Zhang, M.Wang, L.Sengupta, R.Barber, K. R.Tran, A.Zandee, S.Dong, X.Scherzer, C. R.Prat, A.Tsai, E.Takanashi, M.Hattori, N.Chan, J. A.West, A. B.Holmgren, A.Puente, L.Shaw, G. S.Toth, G.Woulfe, J. M.Taylor, P.Tomlinson, J. J.Schlossmacher, M. G.2020-02-20doi:10.1101/2020.02.19.953034Cold Spring Harbor Laboratory Press2020-02-20
<![CDATA[
The Sigma-2 Receptor/TMEM97, PGRMC1, and LDL Receptor complex are responsible for the cellular uptake of Aβ42 and its protein aggregates
]]>
https://biorxiv.org/cgi/content/short/2020.02.19.956359v1?rss=1"
Riad, A.Lengyel-Zhand, Z.Zeng, C.Weng, C.-C.Lee, V. M.- Y.Trojanowski, J. Q.Mach, R. H.2020-02-20doi:10.1101/2020.02.19.956359Cold Spring Harbor Laboratory Press2020-02-20
<![CDATA[
Crowdsourcing digital health measures to predict Parkinson's disease severity: the Parkinson's Disease Digital Biomarker DREAM Challenge
]]>
https://biorxiv.org/cgi/content/short/2020.01.13.904722v1?rss=1"
Sieberts, S. K.Schaff, J.Duda, M.Pataki, B. A.Sun, M.Snyder, P.Daneault, J.-F.Parisi, F.Costante, G.Rubin, U.Banda, P.Chae, Y.Neto, E. C.Dorsey, R.Aydın, Z.Chen, A.Elo, L. L.Espino, C.Glaab, E.Goan, E.Golabchi, F. N.Görmez, Y.Jaakkola, M. K.Jonnagaddala, J.KLEn, R.Li, D.McDaniel, C.Perrin, D.Rad, N. M.Rainaldi, E.Sapienza, S.Schwab, P.Shokhirev, N.Venäläinen, M. S.Vergara-Diaz, G.Zhang, Y.Parkinson's Disease Digital Biomarker Challenge Consortium,Wang, Y.Guan, Y.Brunner, D.Bonato, P.Mangravite, L. M.Omberg2020-01-16doi:10.1101/2020.01.13.904722Cold Spring Harbor Laboratory Press2020-01-16
<![CDATA[
Sexually dimorphic responses to MPTP found in microglia, inflammation and gut microbiota in a progressive monkey model of Parkinson's disease
]]>
https://biorxiv.org/cgi/content/short/2020.01.30.925883v1?rss=1"
Joers, V.Masilamoni, G.Kempf, D. J.Weiss, A. R.Rotterman, T.Murray, B.Yalcin-Cakmakli, G.Voll, R.Goodman, M. M.Howell, L.Bachevalier, J.Green, S.Naqib, A.Shaikh, M.Engen, P.Keshavarzian, A.Barnum, C. J.Nye, J. A.Smith, Y.Tansey, M. G.2020-01-31doi:10.1101/2020.01.30.925883Cold Spring Harbor Laboratory Press2020-01-31
<![CDATA[
Human Tau Isoform Aggregation and Selective Detection of Misfolded Tau from Post-Mortem Alzheimer's Disease Brains
]]>
https://biorxiv.org/cgi/content/short/2019.12.31.876946v1?rss=1"
Wu, L.Wang, Z.Lad, S.Dougharty, D.Madhavan, S.Marcus, M.Henderson, F.Ray, W. K.Tan, C.Siedlak, S.Li, J.Helm, R. F.Zhu, X.Bloom, G. S.Zou, W.Xu, B.2020-01-02doi:10.1101/2019.12.31.876946Cold Spring Harbor Laboratory Press2020-01-02
<![CDATA[
Dopaminergic Neurodegeneration Induced by Parkinson's Disease-Linked G2019S LRRK2 is Dependent on Kinase and GTPase Activity
]]>
https://biorxiv.org/cgi/content/short/2019.12.17.879759v1?rss=1"
Nguyen, A. P. T.Tsika, E.Kelly, K.Chen, X.Levine, N.West, A. B.Boularand, S.Barneoud, P.Moore, D. J.2019-12-18doi:10.1101/2019.12.17.879759Cold Spring Harbor Laboratory Press2019-12-18
<![CDATA[
Cross-Sectional and Longitudinal Validation of Serum Neurofilament Light Chain (NfL) as a Biomarker of Parkinson’s Disease Progression
]]>
https://biorxiv.org/cgi/content/short/762237v1?rss=1"
Mollenhauer, B.Dakna, D.Liu, T.-Y.Galasko, D.Foroud, T.Zetterberg, H.Schade, S.Gera, R.Wang, W.Gao, F.Kruse, N.Frasier, M.Chahine, L.Coffey, C. S.Singleton, A. B.Simuni, T.Weintraub, D.Seibyl, J.Toga, A. W.Tanner, C. M.Kieburtz, K.Marek, K.Siderowf, A.Cedarbaum, J. M.Hutten, S. J.Trenkwalder, C.Graham, D.2019-09-11doi:10.1101/762237Cold Spring Harbor Laboratory Press2019-09-11
<![CDATA[
17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson's disease and progressive supranuclear palsy converge on altered glial regulation
]]>
https://biorxiv.org/cgi/content/short/860668v1?rss=1"
Bowles, K. R.Pugh, D. A.Farrell, K.Han, N.TCW, J.Liu, Y.Liang, S. A.Qian, L.Bendl, J.Fullard, J. F.Renton, A. E.Casella, A.Iida, M. A.Bandres-Ciga, S.Gan-Or, Z.Heutink, P.Siitonen, A.Bertelsen, S.Karch, C.Frucht, S.Kopell, B. H.Peter, I.Park, Y. J.Crane, P.Kauwe, J. S.Boehme, K. L.Hoglinger, G. U.PART working group,IPDGC,PSP genetics consortium,Charney, A. W.Roussos, P.Wang, J. C.Poon, W. W.Raj, T.Crary, J. F.Goate, A. M.2019-11-30doi:10.1101/860668Cold Spring Harbor Laboratory Press2019-11-30
<![CDATA[
DeepSleep: Fast and Accurate Delineation of Sleep Arousals at Millisecond Resolution by Deep Learning
]]>
https://biorxiv.org/cgi/content/short/859256v1?rss=1"
Li, H.Guan, Y.2019-11-29doi:10.1101/859256Cold Spring Harbor Laboratory Press2019-11-29
<![CDATA[
Leopard: fast decoding cell type-specific transcription factor binding landscape at single-nucleotide resolution
]]>
https://biorxiv.org/cgi/content/short/856823v1?rss=1"
Li, H.Guan, Y.2019-11-27doi:10.1101/856823Cold Spring Harbor Laboratory Press2019-11-27
<![CDATA[
Integrated Proteomics Reveals Brain-Based Cerebrospinal Fluid Biomarkers in Asymptomatic and Symptomatic Alzheimer’s Disease
]]>
https://biorxiv.org/cgi/content/short/806752v1?rss=1"
3,500 proteins across 40 CSF samples from control and AD patients and >12,000 proteins across 48 postmortem brain tissues from control, asymptomatic AD (AsymAD), AD, and other neurodegenerative cases. Co-expression network analysis of the brain tissues resolved 44 protein modules, nearly half of which significantly correlated with AD neuropathology. Fifteen modules robustly overlapped with proteins quantified in the CSF, including 271 CSF markers highly altered in AD. These 15 overlapping modules were collapsed into five panels of brain-linked fluid markers representing a variety of cortical functions. Neuron-enriched synaptic and metabolic panels demonstrated decreased levels in the AD brain but increased levels in diseased CSF. Conversely, glial-enriched myelination and immunity panels were highly increased in both the brain and CSF. Using high-throughput proteomic analysis, proteins from these panels were validated in an independent CSF cohort of control, AsymAD, and AD samples. Remarkably, several validated markers were significantly altered in AsymAD CSF and appeared to stratify subpopulations within this cohort. Overall, these brain-linked CSF biomarker panels represent a promising step toward a physiologically comprehensive tool that could meaningfully enhance the prognostic and therapeutic management of AD.
]]>Higginbotham, L.Ping, L.Dammer, E. B.Duong, D. M.Zhou, M.Gearing, M.Johnson, E. C. B.Hajjar, I.Lah, J. J.Levey, A. I.Seyfried, N. T.2019-10-16doi:10.1101/806752Cold Spring Harbor Laboratory Press2019-10-16
<![CDATA[
The in situ structure of Parkinson’s disease-linked LRRK2
]]>
https://biorxiv.org/cgi/content/short/837203v1?rss=1"
Watanabe, R.Buschauer, R.Boehning, J.Audagnotto, M.Lasker, K.Lu, T. W.Boassa, D.Taylor, S.Villa, E.2019-11-10doi:10.1101/837203Cold Spring Harbor Laboratory Press2019-11-10
<![CDATA[
Dopamine buffering capacity imaging: A pharmacodynamic fMRI method for staging Parkinson disease
]]>
https://biorxiv.org/cgi/content/short/817106v1?rss=1"
Black, K. J.Acevedo, H. K.Koller, J. M.2019-10-24doi:10.1101/817106Cold Spring Harbor Laboratory Press2019-10-24
<![CDATA[
Identification of distinct pathological signatures induced by patient-derived α-synuclein structures in non-human primates
]]>
https://biorxiv.org/cgi/content/short/825216v1?rss=1"
Bourdenx, M.Nioche, A.Dovero, S.Arotcarena, M.-L.Camus, S.Porras, G.Thiolat, M.-L.Rougier, N. P.Prigent, A.Aubert, P.Bohic, S.Sandt, C.Laferriere, F.Doudnikoff, E.Kruse, N.Mollenhauer, B.Novello, S.Morari, M.Leste-Lasserre, T.Trigo Damas, I.Goillandeau, M.Perier, C.Estrada, C.Garcia Carrillo, N.Recasens, A.Vaikath, N. N.El-Agnaf, O. M. A.Herrero Ezquerro, M. T.Derkinderen, P.Vila Bover, M.Obeso, J. A.Dehay, B.Bezard, E.2019-10-31doi:10.1101/825216Cold Spring Harbor Laboratory Press2019-10-31
<![CDATA[
Accurate MS-based Rab10 phosphorylation stoichiometry determination as readout for LRRK2 activity in Parkinson’s disease
]]>
https://biorxiv.org/cgi/content/short/819607v1?rss=1"
Karayel, O.Tonelli, F.Virreira Winter, S.Geyer, P. E.Fan, Y.Sammler, E. M.Alessi, D. R.Steger, M.Mann, M.2019-10-25doi:10.1101/819607Cold Spring Harbor Laboratory Press2019-10-25
<![CDATA[
No genetic evidence for involvement of alcohol dehydrogenase genes in risk for Parkinson’s disease
]]>
https://biorxiv.org/cgi/content/short/784405v1?rss=1"
Kim, J. J.Bandres Ciga, S.Blauwendraat, C.International Parkinson's Disease Genomics Consortium,Gan-Or, Z.2019-10-03doi:10.1101/784405Cold Spring Harbor Laboratory Press2019-10-03
<![CDATA[
Striatal Nurr1 Facilitates the Dyskinetic State and Exacerbates Levodopa-Induced Dyskinesia in a Rat Model of Parkinson’s Disease
]]>
https://biorxiv.org/cgi/content/short/768374v1?rss=1"
Sellnow, R. C.Steece-Collier, K.Altwal, F.Sandoval, I. M.Kordower, J. H.Collier, T. J.Sortwell, C. E.West, A. R.Manfredsson, F.2019-09-28doi:10.1101/768374Cold Spring Harbor Laboratory Press2019-09-28
<![CDATA[
Analysis of common and rare VPS13C variants in late onset Parkinson disease
]]>
https://biorxiv.org/cgi/content/short/705533v1?rss=1"
Rudakou, U.Ruskey, J. A.Krohn, L.Laurent, S. B.Spiegelman, D.Greenbaum, L.Yahalom, G.Desautels, A.Montplaisir, J. Y. Y.Fahn, S.Waters, C. H.Levy, O.Kehoe, C. M.Narayan, S.Dauvilliers, Y.Dupre, N.Hassin-Baer, S.Alcalay, R. N.Rouleau, G. A.Fon, E. A.Gan-Or, Z.2019-07-20doi:10.1101/705533Cold Spring Harbor Laboratory Press2019-07-20
<![CDATA[
A simple, versatile and robust centrifugation-based filtration protocol for the isolation and quantification of α-synuclein monomers, oligomers and fibrils: towards improving experimental reproducibility in α-synuclein research
]]>
https://biorxiv.org/cgi/content/short/772160v1?rss=1"
nView larger version (33K):norg.highwire.dtl.DTLVardef@13fb942org.highwire.dtl.DTLVardef@9bc3adorg.highwire.dtl.DTLVardef@4b9c66org.highwire.dtl.DTLVardef@9054f_HPS_FORMAT_FIGEXP M_FIG C_FIG
]]>Kumar, S. T.Donzelli, S.Chiki, A.Syed, M. M. K.Lashuel, H.2019-09-21doi:10.1101/772160Cold Spring Harbor Laboratory Press2019-09-21
<![CDATA[
Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinsons disease
]]>
https://biorxiv.org/cgi/content/short/561472v1?rss=1"
Whiffin, N.Armean, I. M.Kleinman, A.Marshall, J. L.Minikel, E. V.Karczewski, K. J.Cummings, B. B.Francioli, L.Laricchia, K.Wang, Q.Guan, A.Alipanahi, B.Morrison, P.Baptista, M. A.Merchant, K. M.Genome Aggregation Database Production Team,Genome Aggregation Database Consortium,Ware, J. S.Havulinna, A. S.Iliadou, B.Lee, J.-J.Nadkarni, G. N.Whiteman, C.the 23andMe Research Team,Daly, M.Esko, T.Hultman, C.Loos, R. J.Milani, L.Palotie, A.Pato, C.Pato, M.Saleheen, D.Sullivan, P. F.Alföldi, J.Cannon, P.MacArthur, D. G.2019-02-27doi:10.1101/561472Cold Spring Harbor Laboratory Press2019-02-27
<![CDATA[
PINK1-dependent phosphorylation of Serine111 within the SF3 motif of Rab GTPases impairs effector interactions and LRRK2 mediated phosphorylation at Threonine72
]]>
https://biorxiv.org/cgi/content/short/764019v1?rss=1"
Vieweg, S.Mulholland, K.Braeuning, B.Kachariya, N.Lai, Y.-C.Toth, R.Sattler, M.Groll, M.Itzen, A.Muqit, M.2019-09-12doi:10.1101/764019Cold Spring Harbor Laboratory Press2019-09-12
<![CDATA[
Fine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies
]]>
https://biorxiv.org/cgi/content/short/756528v1?rss=1"
80% will eventually convert to overt synucleinopathy. We performed an in-depth analysis of the SNCA locus to identify RBD-specific risk variants.nnMethodsFull sequencing and genotyping of SNCA was performed in isolated/idiopathic RBD (iRBD, n=1,076), Parkinsons disease (PD, n=1,013), and dementia with Lewy bodies (DLB, n=415), and in control subjects (n=6,155). A replication cohort from 23andMe of PD patients with probable RBD (pRBD) was also analyzed (cases n=1,782, controls n=131,250). Adjusted logistic regression models and meta-analyses were performed. Effects on conversion rate were analyzed in 432 RBD patients with available data using Kaplan-Meier survival analysis.nnResultsA 5-region SNCA variant (rs10005233) was associated with iRBD (OR=1.43, p=1.1E-08), which was replicated in pRBD. This variant is in linkage disequilibrium (LD) with other 5 risk variants across the different synucleinopathies. An independent iRBD-specific suggestive association (rs11732740) was detected at the 3 of SNCA (OR=1.32, p=4.7E-04, not statistically significant after Bonferroni correction). Homozygous carriers of both iRBD-specific SNPs were at highly increased risk for iRBD (OR=5.74, p=2E-06). The known top PD-associated variant (3 variant rs356182) had an opposite direction of effect in iRBD compared to PD.nnInterpretationThere is a distinct pattern of association at the SNCA locus in RBD as compared to PD, with an opposite direction of effect at the 3 of SNCA. Several 5 SNCA variants are associated with iRBD and with pRBD in overt synucleinopathies, and may suggest a cognitive component to this region.
]]>Krohn, L. M.Wu, R. Y.Heilbron, K.Ruskey, J. A.Laurent, S. B.Blauwendraat, C.Alam, A.Arnulf, I.Hu, M. T.Dauvilliers, Y.Högl, B.Toft, M.Bjornara, K. A.Stefani, A.Holzknecht, E.Monaca, C. C.Beatriz, A.Plazzi, G.Antelmi, E.Ferini-Strambi, L.Young, P.Heidbreder, A.Cochen De Cock, V.Mollenhauer, B.Sixel-Döring, F.Trenkwalder, C.Sonka, K.Kemlink, D.Figorilli, M.Puligheddu, M.Dijkstra, F.Viaene, M.Oertel, W.Toffoli, M.Gigli, G. L.Valente, M.Gagnon, J.-F.Nalls, M. A.Singleton, A. B.23andMe Research Team,Desautels, A.M2019-09-04doi:10.1101/756528Cold Spring Harbor Laboratory Press2019-09-04
<![CDATA[
A genome-wide genetic pleiotropy approach identified shared loci between multiple system atrophy and inflammatory bowel disease
]]>
https://biorxiv.org/cgi/content/short/751354v1?rss=1"
Shadrin, A. A.Mucha, S.Ellinghaus, D.Makarious, M. B.Blauwendraat, C.Sreelatha, A. A.Heras-Garvin, A.Ding, J.Hammer, M.Foubert-Samier, A.Meissner, W. G.Rascol, O.Pavy-Le Traon, A.Frei, O. A.O'Connell, K. S.Bahrami, S.Schreiber, S.Lieb, W.Müller-Nuraysid, M.Arnold, A.Homuth, G.Schmidt, C. O.Nöthen, M. M.Hoffmann, P.Gieger, C.European Multiple System Atrophy Study Group,Gibbs, J. R.Franke, A.Hardy, J.Wenning, G.Stefanova, N.Gasser, T.Singleton, A.Houlden, H.Scholz, S. W.Andreassen, O. A.Sharma, M.2019-08-31doi:10.1101/751354Cold Spring Harbor Laboratory Press2019-08-31
<![CDATA[
An assessment of LRRK2 serine 935 phosphorylation in human peripheral blood mononuclear cells in idiopathic Parkinson’s disease and G2019S LRRK2 cohorts
]]>
https://biorxiv.org/cgi/content/short/749226v1?rss=1"
Padmanabhan, S.Lanz, T. A.Gorman, D.Wolfe, M.Levers, N.Joshi, N.Liong, C.Narayan, S.Alcalay, R. N.Hutten, S. J.Baptista, M. A. S.Merchant, K.2019-08-29doi:10.1101/749226Cold Spring Harbor Laboratory Press2019-08-29
<![CDATA[
Structural basis for Rab8a GTPase recruitment of RILPL2 via LRRK2 phosphorylation of switch 2
]]>
https://biorxiv.org/cgi/content/short/739813v1?rss=1"
Khan, A. R.Alessi, D. R.Waschbusch, D.Purlyte, E.Pal, P.McGrath, E.2019-08-19doi:10.1101/739813Cold Spring Harbor Laboratory Press2019-08-19
<![CDATA[
Genetic modifiers of risk and age at onset in GBA associated Parkinson disease and Lewy body dementia
]]>
https://biorxiv.org/cgi/content/short/738351v1?rss=1"
10-fold. An outstanding question in the field is what other genetic factors that influence GBA-associated risk for disease, and whether these overlap with known PD risk variants.nnUsing multiple, large case-control datasets, totalling 217,165 individuals (22,757 PD cases, 13,431 PD proxy cases, 622 LBD cases and 180,355 controls), we identified 1,772 PD cases, 711 proxy cases and 7,624 controls with a GBA variant (p.E326K, p.T369M or p.N370S). We performed a genome-wide association study and analysed the most recent PD-associated genetic risk score to detect genetic influences on GBA risk and age at onset. We attempted to replicate our findings in two independent datasets, including the personal genetics company 23andMe, Inc. and whole-genome sequencing data. Our analysis showed that the overall PD genetic risk score modifies risk for disease and decreases age at onset in carriers of GBA variants. Notably, this effect was consistent across all tested GBA risk variants. Dissecting this signal demonstrated that variants in close proximity to SNCA and CTSB (encoding cathepsin B) are the most significant contributors. Risk variants in the CTSB locus were identified to decrease mRNA expression of CTSB. Additional analyses suggest a possible genetic interaction between GBA and CTSB and GBA p.N370S neurons were shown to have decreased Cathepsin B expression compared to controls. These data provide a genetic basis for modification of GBA-associated PD risk and age at onset and demonstrate that variability at genes implicated in lysosomal function exerts the largest effect on GBA associated risk for disease. Further, these results have important implications for selection of GBA carriers for therapeutic interventions.
]]>Blauwendraat, C.Reed, X.Krohn, L.Heilbron, K.Bandres-Ciga, S.Tan, M.Gibbs, J. R.Hernandez, D. G.Kumaran, R.Langston, R.Bonet Ponce, L.Alcalay, R.Hassin-Baer, S.Greenbaum, L.Iwaki, H.Leonard, H.Grenn, F. P.Ruskey, J. A.Sabir, M.Ahmed, S.Makarious, M. B.Pihlstrom, L.Toft, M.van Hilten, J. J.Marinus, J.Schulte, C.Sharma, M.Brockmann, K.Siitonen, A.Majamaa, K.Eerola-Rautio, J.Tienari, P.The 23andMe Research Team,Pantelyat, A.Hillis-Trupe, A.Dawson, T.Rosenthal, L.Albert, M.Resnick, S. M.Ferrucci, L.Morris, C. M.Ple2019-08-18doi:10.1101/738351Cold Spring Harbor Laboratory Press2019-08-18
<![CDATA[
Penetrance of Parkinson’s disease in LRRK2 p.G2019S carriers is modified by a polygenic risk score
]]>
https://biorxiv.org/cgi/content/short/738260v1?rss=1"
Iwaki, H.Blauwendraat, C.Makarious, M. B.Bandres-Ciga, S.Leonard, H. L.Gibbs, J. R.Hernandez, D. G.Scholz, S. W.Faghri, F.Nalls, M. A.Singleton, A. B.2019-08-16doi:10.1101/738260Cold Spring Harbor Laboratory Press2019-08-16
<![CDATA[
LRRK2 regulates innate immune responses and neuroinflammation during Mycobacterium tuberculosis infection
]]>
https://biorxiv.org/cgi/content/short/699066v1?rss=1"
Weindel, C. G.Bell, S. L.Huntington, T. E.Vail, K.Srinivasan, R.Patrick, K.Watson, R. O.2019-07-11doi:10.1101/699066Cold Spring Harbor Laboratory Press2019-07-11
<![CDATA[
ThX - A next-generation probe for the early detection of amyloid aggregates
]]>
https://biorxiv.org/cgi/content/short/713594v1?rss=1"
Needham, L.-M.Weber, J.Varela, J. A.Fyfe, J. W. B.Do, D. T.Xu, C. K.Keenlyside, B.Cliffe, R.Klenerman, D.Dobson, C. M.Hunter, C. A.Bohndiek, S. E.Snaddon, T. N.Lee, S. F.2019-07-24doi:10.1101/713594Cold Spring Harbor Laboratory Press2019-07-24
<![CDATA[
PPM1H phosphatase counteracts LRRK2 signaling by selectively dephosphorylating Rab proteins
]]>
https://biorxiv.org/cgi/content/short/711176v1?rss=1"
Berndsen, K.Lis, P.Yeshaw, W.Wawro, P. S.Nirujogi, R. S.Wightman, M.Macartney, T.Dorward, M.Knebel, A.Tonelli, F.Pfeffer, S. R.Alessi, D. R.2019-07-22doi:10.1101/711176Cold Spring Harbor Laboratory Press2019-07-22
<![CDATA[
Bach2 is a potent repressor of Nrf2-mediated antioxidant enzyme expression in dopaminergic neurons
]]>
https://biorxiv.org/cgi/content/short/687590v1?rss=1"
Waxman, E. A.2019-07-02doi:10.1101/687590Cold Spring Harbor Laboratory Press2019-07-02
<![CDATA[
CSF sTREM2 correlates with CSF tau in advancing Parkinson’s disease
]]>
https://biorxiv.org/cgi/content/short/687269v1?rss=1"
Wilson, E. N.Swarovski, M. S.Linortner, P.Shahid, M.Zuckerman, A. J.Wang, Q.Channappa, D.Minhas, P. S.Mhatre, S. D.Plowey, E. D.Quinn, J. F.Zabetian, C. P.Tian, L.Longo, F. M.Cholerton, B.Montine, T. J.Poston, K. L.Andreasson, K. I.2019-06-30doi:10.1101/687269Cold Spring Harbor Laboratory Press2019-06-30
<![CDATA[
Organotypic slice culture model demonstrates interneuronal spreading of alpha-synuclein aggregates
]]>
https://biorxiv.org/cgi/content/short/681064v1?rss=1"
Elfarrash, S.Jensen, N. M.Ferreira, N.Betzer, C.Thevathasan, J. V.Diekmann, R.Adel, M.Omar, N. M.Boraie, M.Gad, S.Ries, J.Kirik, D.Nabavi, S.Jensen, P. H.2019-06-24doi:10.1101/681064Cold Spring Harbor Laboratory Press2019-06-24
<![CDATA[
A revised 1.6 Å structure of the GTPase domain of the Parkinson’s disease-associated protein LRRK2 provides insights into mechanisms
]]>
https://biorxiv.org/cgi/content/short/676627v1?rss=1"
Wu, C.-X.Liao, J.Park, Y.Hoang, N. C.Engel, V. A.Wan, L.Oh, M.Sanishvili, R.Takagi, Y.Johnson, S. M.Wang, M.Federici, M.Nichols, R. J.Bellina, A.Reed, X.Cookson, M. R.Hoang, Q. Q.2019-06-23doi:10.1101/676627Cold Spring Harbor Laboratory Press2019-06-23
<![CDATA[
Phosphorylation of Ser111 in Rab8a modulates Rabin8 dependent activation by perturbation of side chain interaction networks
]]>
https://biorxiv.org/cgi/content/short/670729v1?rss=1"
80% in the presence of Rabin8 compared to wild type. In addition to specific insights into how S111 phosphorylation of Rab8a can influence GEF-mediated activation, the simulations demonstrate how side chain modifications in general can allosterically influence the network of surface side chain interactions between binding partners.
]]>Pourjafar-Dehkordi, D.Vieweg, S.Itzen, A.Zacharias, M.2019-06-13doi:10.1101/670729Cold Spring Harbor Laboratory Press2019-06-13
<![CDATA[
The Emerging Gait Dysfunction Phenotype in Idiopathic Parkinson’s Disease
]]>
https://biorxiv.org/cgi/content/short/632638v1?rss=1"
Skidmore, F.Monroe, W.Hurt, C.Nicholas, A.Gerstenecker, A.Anthony, T.Jololian, L.Cutter, G.Bashir, A.Denney, T.Standaert, D.Disbrow, E.2019-05-17doi:10.1101/632638Cold Spring Harbor Laboratory Press2019-05-17
<![CDATA[
Integration of eQTL and Parkinson’s disease GWAS data implicates 11 disease genes
]]>
https://biorxiv.org/cgi/content/short/627216v1?rss=1"
Kia, D. A.Zhang, D.Guelfi, S.Manzoni, C.Hubbard, L.United Kingdom Brain Expression Consortium (UKBEC),International PD Genomics Consortium (IPDGC),Reynolds, R. H.Botia, J. A.Ryten, M.Ferrari, R.Lewis, P. A.Williams, N.Trabzuni, D.Hardy, J.Wood, N. W.2019-05-05doi:10.1101/627216Cold Spring Harbor Laboratory Press2019-05-05
<![CDATA[
Experimental colitis drives enteric alpha-synuclein accumulation and Parkinson-like brain pathology
]]>
https://biorxiv.org/cgi/content/short/505164v1?rss=1"
Grathwhohl, S.Quansah, E.Maroof, N.Steiner, J. A.Spycher, L.Benmansour, F.Duran-Pacheco, G.Siebourg-Polster, J.Oroszlan-Szovik, K.Remy, H.Haenggi, M.Stawiski, M.Sehlhausen, M.Maliver, P.Wolfert, A.Emrich, T.Madaj, Z.Escobar Galvis, M. L.Mueller, C.Herrnann, A.Brundin, P.Britschgi, M.2018-12-22doi:10.1101/505164Cold Spring Harbor Laboratory Press2018-12-22
<![CDATA[
Increased Dynamics of α-Synuclein Fibrils by β-Synuclein Leads to Reduced Seeding and Cytotoxicity
]]>
https://biorxiv.org/cgi/content/short/620401v1?rss=1"
Yang, X.Williams, J.Yan, R.Mouradian, M. M.Baum, J.2019-04-26doi:10.1101/620401Cold Spring Harbor Laboratory Press2019-04-26
<![CDATA[
The genetic architecture of Parkinson disease in Spain: characterizing population-specific risk, differential haplotype structures, and providing etiologic insight
]]>
https://biorxiv.org/cgi/content/short/609016v1?rss=1"
Bandres Ciga, S.Ahmed, S.Sabir, M.Blauwendraat, C.Adarmes-Gomez, A.Bernal-Bernal, I.Bonilla-Toribio, M.Buiza-Rueda, D.Carrillo, F.Carrion-Claro, M.Gomez-Garre, P.Jesus, S.Labrador-Espinosa, M. A.Macias, D.Mendez-del-Barrio, C.Perinan-Tocino, T.Tejera-Parrado, C.Vargas-Gonzalez, L.Diez-Fairen, M.Alvarez, I.Tartari, J. P.Buongiorno, M. T.Aguilar, M.Gorostidi, A.Bergareche, J. A.Mondragon, E.Ruiz-Martinez, J.Dols-Icardo, O.Kulisevsky, J.Marin-Lahoz, J.Pagonabarraga, J.Pascual-Sedano, B.Ezquerra, M.Camara, A.Compta, Y.Fernandez,2019-04-18doi:10.1101/609016Cold Spring Harbor Laboratory Press2019-04-18
<![CDATA[
Genome-wide association study of Parkinson's disease progression biomarkers in 12 longitudinal patients' cohorts
]]>
https://biorxiv.org/cgi/content/short/585836v1?rss=1"
A), within the intron of SLC44A1, was associated with reaching Hoehn and Yahr stage 3 or higher faster (HR 2.04 [1.58, 2.62], P-value = 3.46E-8). Rs61863020(G>A), an intergenic variant and eQTL for ADRA2A, was associated with a lower prevalence of insomnia at baseline (OR 0.63 [0,52, 0.75], P-value = 4.74E-8). In the targeted analysis, we found nine associations between known Parkinsons risk variants and more severe motor/cognitive symptoms. Also, we replicated previous reports of GBA coding variants (rs2230288: p.E365K, rs75548401: p.T408M) being associated with greater motor and cognitive decline over time, and APOE E4 tagging variant (rs429358) being associated with greater cognitive deficits in patients.
ConclusionsWe identified novel genetic factors associated with heterogeneity of progression in Parkinsons disease. The results provide new insights into the pathogenesis of Parkinsons disease as well as patient stratification for clinical trials.
]]>Iwaki, H.Blauwendraat, C.Leonard, H. L.Kim, J. J.Liu, G.Maple-Grodem, J.Corvol, J.-C.Pihlstrom, L.van Nimwegen, M.Hutten, S. J.Nguyen, K.-D. H.Rick, J.Eberly, S.Faghri, F.Auinger, P.Scott, K. M.Wijeyekoon, R.Van Deerlin, V. M.Hernandez, D.Gibbs, J. R.Chitrala, K. N.Day-Williams, A. G.Brice, A.Alves, G.Noyce, A. J.Tysnes, O.-B.Evans, J.Breen, D. P.Estrada, K.Wegel, C. E.Danjou, F.Simon, D. K.Andreassen, O. A.Ravina, B.Toft, M.Heutink, P.Bloem, B. R.Weintraub, D.Barker, R. A.Williams-Gray, C. H.van de Warrenburg, B.2019-03-25doi:10.1101/585836Cold Spring Harbor Laboratory Press2019-03-25
<![CDATA[
Loss of one Engrailed1 allele enhances induced α-synucleinopathy
]]>
https://biorxiv.org/cgi/content/short/530915v1?rss=1"
Chatterjee, D.Saiz Sanchez, D.Quansah, E.Rey, N. L.George, S.Becker, K.Madaj, Z.Steiner, J. A.Ma, J.Escobar Galvis, M. L.Kordower, J. H.Brundin, P.2019-01-26doi:10.1101/530915Cold Spring Harbor Laboratory Press2019-01-26
<![CDATA[
Parkinson’s disease genetics: identifying novel risk loci, providing causal insights and improving estimates of heritable risk
]]>
https://biorxiv.org/cgi/content/short/388165v1?rss=1"
Nalls, M. A.Blauwendraat, C.Vallerga, C. L.Heilbron, K.Bandres-Ciga, S.Chang, D.Tan, M.Kia, D. A.Noyce, A. J.Xue, A.Bras, J.Young, E.von Coelln, R.Simon-Sanchez, J.Schulte, C.Sharma, M.Krohn, L.Pihlstrom, L.Siitonen, A.Iwaki, H.Leonard, H.Faghri, F.Gibbs, J. R.Hernandez, D. G.Scholz, S. W.Botia, J. A.Martinez, M.Corvol, J.-C.Lesage, S.Jankovic, J.Shulman, L. M.The 23andMe Research Team,System Genomics of Parkinson's Disease (SGPD) Consortium,Sutherland, M.Tienari, P.Majamaa, K.Toft, M.Brice, A.Yang, J.Gan-Orr, Z2018-08-09doi:10.1101/388165Cold Spring Harbor Laboratory Press2018-08-09
<![CDATA[
The value of non-motor features and genetic variants of Parkinson's disease for clustering Lewy body diseases
]]>
https://biorxiv.org/cgi/content/short/551507v1?rss=1"
60 years) classified together with the lowest symptomatic E46K-SNCA, PARK2 carriers and HCs, characterizing by having mild-to-moderate cognitive and motor disabilities with few axial symptoms; and Cluster 3 or "Severe": old iPD (>60 years) classified together with all DLB and the most symptomatic E46K-SNCA carriers, characterized by having severe pattern-specific cognitive disabilities (visual attention, perception, processing speed, memory and executive functions) and severe motor PD manifestations with marked axial symptoms.
ConclusionsOur study supports the potential value of incorporating genetic PD variants in data-driven iPD classification algorithms and the usefulness of non-motor PD features, especially visual cognition abnormalities, to facilitate the identification of aggressive LB diseases.
]]>Lucas-Jimenez, O.Diez, I.Ojeda, N.Ibarretxe-Bilbao, N.Pena, J.Tijero, B.Galdos, M.Murueta-Goyena, A.Del Pino, R.Acera, M.Gomez-Esteban, J. C.Gabilondo, I.2019-02-16doi:10.1101/551507Cold Spring Harbor Laboratory Press2019-02-16
<![CDATA[
Dynamics of visual contextual interactions is altered in Parkinson's disease
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https://biorxiv.org/cgi/content/short/549691v1?rss=1"
Vanegas, M. I.Blangero, A.Galvin, J. E.Di Rocco, A.Quartarone, A.Ghilardi, M. F.Kelly, S. P.2019-02-14doi:10.1101/549691Cold Spring Harbor Laboratory Press2019-02-14
<![CDATA[
The necroptosis machinery mediates axonal degeneration in a model of Parkinson disease
]]>
https://biorxiv.org/cgi/content/short/539700v1?rss=1"
Onate, M.Catenaccio, A.Salvadores, N.Saquel, C.Martinez, A.Moreno-Gonzalez, I.Gamez, N.Soto, P.Soto, C.Hetz, C.Court, F. A.2019-02-05doi:10.1101/539700Cold Spring Harbor Laboratory Press2019-02-05
<![CDATA[
Large-scale proteomic analysis of human prefrontal cortex identifies proteins associated with cognitive trajectory in advanced age
]]>
https://biorxiv.org/cgi/content/short/526988v1?rss=1"
Wingo, A. P.Dammer, E. B.Breen, M. S.Logsdon, B. A.Duong, D. M.Troncosco, J. C.Thambisetty, M.Beach, T. G.Serrano, G. E.Reiman, E. M.Caselli, R. J.Lah, J. J.Seyfried, N. T.Levey, A. I.Wingo, T. S.2019-01-23doi:10.1101/526988Cold Spring Harbor Laboratory Press2019-01-23
<![CDATA[
An MRI Atrophy Biomarker Predicts Global Prognosis in Early De Novo Parkinson's Disease
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https://biorxiv.org/cgi/content/short/528810v1?rss=1"
Zeighami, Y.Fereshtehnejad, S.-M.Dadar, M.Collins, D. L.Postuma, R. B.Dagher, A.2019-01-23doi:10.1101/528810Cold Spring Harbor Laboratory Press2019-01-23
<![CDATA[
Tensor Decomposition of Stimulated Monocyte and Macrophage Gene Expression Profiles Identifies Neurodegenerative Disease-specific Trans-eQTLs
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https://biorxiv.org/cgi/content/short/499509v1?rss=1"
Ramdhani, S.Navarro, E.Udine, E.Schilder, B. M.Parks, M.Raj, T.2018-12-18doi:10.1101/499509Cold Spring Harbor Laboratory Press2018-12-18
<![CDATA[
α-Synuclein binds extracellular complex N-linked glycans
]]>
https://biorxiv.org/cgi/content/short/407247v1?rss=1"
Birol, M.Wojcik, S. P.Miranker, A. D.Rhoades, E.2018-09-03doi:10.1101/407247Cold Spring Harbor Laboratory Press2018-09-03
<![CDATA[
Discovery of volatile biomarkers of Parkinsons disease from sebum
]]>
https://biorxiv.org/cgi/content/short/469726v1?rss=1"
Trivedi, D. K.Sinclair, E.Xu, Y.Sarkar, D.Liscio, C.Banks, P.Milne, J.Silverdale, M.Kunath, T.Goodacre, R.Barran, P.2018-11-15doi:10.1101/469726Cold Spring Harbor Laboratory Press2018-11-15
<![CDATA[
Heritability and genetic variance of dementia with Lewy bodies
]]>
https://biorxiv.org/cgi/content/short/454249v1?rss=1"
Guerreiro, R.Escott-Price, V.Hernandez, D.Kun-Rodrigues, C.Ross, O.Orme, T.Neto, J. L.Carmona, S.Dehghani, N.Eicher, J. D.Shepherd, C.Parkkinen, L.Darwent, L.Heckman, M. G.Scholz, S.Troncoso, J.Pletnikova, O.Dawson, T.Rosenthal, L.Ansorge, O.Clarimon, J.Lleo, A.Morenas-Rodriguez, E.Clark, L.Honig, L.Marder, K.Lemstra, A.Rogaeva, E.St. George-Hyslop, P.Londos, E.Zetterberg, H.Barber, I.Braae, A.Brown, K.Morgan, K.Troakes, C.Al-Sarraj, S.Lashley, T.Holton, J.Compta, Y.Van Deerlin, V.Serrano, G.Beach, T.Lesage,2018-10-26doi:10.1101/454249Cold Spring Harbor Laboratory Press2018-10-26
<![CDATA[
Parkinson disease age of onset GWAS: defining heritability, genetic loci and a-synuclein mechanisms
]]>
https://biorxiv.org/cgi/content/short/424010v1?rss=1"
Blauwendraat, C.Heilbron, K.Vallerga, C. L.Bandres-Ciga, S.von Coelln, R.Pihlstrom, L.Simon-Sanchez, J.Schulte, C.Sharma, M.Krohn, L.Siitonen, A.Iwaki, H.Leonard, H.Noyce, A. J.Tan, M.Gibbs, J. R.Hernandez, D. G.Scholz, S. W.Jankovic, J.Shulman, L. M.Lesage, S.Corvol, J.-C.Brice, A.van Hilten, J. J.Marinus, J.The 23andMe Research Team,Tienari, P.Majamaa, K.Toft, M.Grosset, D. G.Gasser, T.Heutink, P.Shulman, J. M.Wood, N.Hardy, J.Morris, H. R.Hinds, D. A.Gratten, J.Visscher, P. M.Gan-Or, Z.Nalls, M.Singleton, A.2018-10-11doi:10.1101/424010Cold Spring Harbor Laboratory Press2018-10-11
<![CDATA[
Rapid, noninvasive, and unsupervised detection of sleep/wake using piezoelectric monitoring for pharmacological studies in narcoleptic mice
]]>
https://biorxiv.org/cgi/content/short/226522v1?rss=1"
Black, S. W.Sun, J. D.Laihsu, A.Kimura, N.Santiago, P.Donohue, K. D.O'Hara, B. F.Bersot, R.Humphries, P. S.2017-11-29doi:10.1101/226522Cold Spring Harbor Laboratory Press2017-11-29
<![CDATA[
LRRK2 kinase inhibitors induce a reversible effect in the lungs of non-human primates with no measurable pulmonary deficits
]]>
https://biorxiv.org/cgi/content/short/390815v1?rss=1"
Baptista, M.Merchant, K.Barrett, T.Bryce, D.Ellis, M.Estrada, A.Fell, M.Fiske, B.Fuji, R.Galatsis, P.Henry, A.Hill, S.Hirst, W.Houle, C.Kennedy, M.Liu, X.Maddess, M.Markgraf, C.Mei, H.Meier, W.Ploch, S.Royer, C.Rudolph, K.Sharma, A.Stepan, A.Steyn, S.Trost, C.Yin, Z.Yu, H.Wang, X.Sherer, T.2018-08-15doi:10.1101/390815Cold Spring Harbor Laboratory Press2018-08-15
<![CDATA[
Parkinson-associated SNCA enhancer variants revealed by open chromatin in mouse dopamine neurons
]]>
https://biorxiv.org/cgi/content/short/364257v1?rss=1"
2,300 putative enhancers assayed in mice reveals enrichment for MB cis-regulatory elements (CRE), data reinforced by transgenic analyses of six additional sequences in zebrafish and mice. One CRE, within intron 4 of the familial PD gene SNCA, directs reporter expression in catecholaminergic neurons of transgenic mice and zebrafish. Sequencing of this CRE in 986 PD patients and 992 controls reveals two common variants associated with elevated PD risk. To assess potential mechanisms of action, we screened >20,000 DNA interacting proteins and identify a subset whose binding is impacted by these enhancer variants. Additional genotyping across the SNCA locus identifies a single PD-associated haplotype, containing the minor alleles of both of the aforementioned PD-risk variants. Our work posits a model for how common variation at SNCA may modulate PD risk and highlights the value of cell context-dependent guided searches for functional non-coding variation.
]]>McClymont, S. A.Hook, P. W.Soto, A. I.Reed, X.Law, W. D.Kerans, S. J.Waite, E. L.Briceno, N. J.Thole, J. F.Heckman, M. G.Diehl, N. N.Wszolek, Z. K.Moore, C. D.Zhu, H.Akiyama, J. A.Dickel, D. E.Visel, A.Pennacchio, L. A.Ross, O. A.Beer, M. A.McCallion, A. S.2018-07-08doi:10.1101/364257Cold Spring Harbor Laboratory Press2018-07-08
<![CDATA[
Predicting onset, progression, and clinical subtypes of Parkinson disease using machine learning
]]>
https://biorxiv.org/cgi/content/short/338913v1?rss=1"
Faghri, F.Hashemi, S. H.Leonard, H.Scholz, S. W.Campbell, R. H.Nalls, M. A.Singleton, A. B.2018-06-04doi:10.1101/338913Cold Spring Harbor Laboratory Press2018-06-04
<![CDATA[
Levodopa and dopamine dynamics in Parkinson’s disease metabolomics
]]>
https://biorxiv.org/cgi/content/short/306266v1?rss=1"
Branco, R. C.Ellsworth, W.Niezwiecki, M. M.Butkovich, L. M.Walker, D. I.Huddleston, D. E.Jones, D. P.Miller, G. W.2018-04-23doi:10.1101/306266Cold Spring Harbor Laboratory Press2018-04-23
<![CDATA[
Partial ablation of the orexin field induces a subnarcoleptic phenotype in a conditional mouse model of orexin neurodegeneration
]]>
https://biorxiv.org/cgi/content/short/234765v1?rss=1"
Black, S. W.Sun, J. D.Santiago, P.Laihsu, A.Kimura, N.Yamanaka, A.Bersot, R.Humphries, P. S.2017-12-15doi:10.1101/234765Cold Spring Harbor Laboratory Press2017-12-15
<![CDATA[
Detection of GBA missense mutations and other variants using the Oxford Nanopore MinION
]]>
https://biorxiv.org/cgi/content/short/288068v1?rss=1"
Leija-Salazar, M.Sedlazeck, F. J.Mokretar, K.Mullin, S.Toffoli, M.Athanasopoulou, M.Donald, A.Sharma, R.Hughes, D.Schapira, A. H.Proukakis, C.2018-03-23doi:10.1101/288068Cold Spring Harbor Laboratory Press2018-03-23
<![CDATA[
Algorithmic complexity of EEG as a prognosis biomarker of neurodegeneration in idiopathic rapid eye movement behavior disorder (RBD)
]]>
https://biorxiv.org/cgi/content/short/200543v1?rss=1"
Ruffini, G.Ibanez, D.Kroupi, E.Gagnon, J.-F.Montplaisir, J.Postuma, R. B.Soria-Frisch, A.2017-10-09doi:10.1101/200543Cold Spring Harbor Laboratory Press2017-10-09
<![CDATA[
The Parkinson’s Phenome: Traits Associated with Parkinson’s Disease in a Large and Deeply Phenotyped Cohort
]]>
https://biorxiv.org/cgi/content/short/270934v1?rss=1"
Heilbron, K.Noyce, A.Fontanillas, P.Alipanahi, B.The 23andMe Research Team,Nalls, M.Cannon, P.2018-02-28doi:10.1101/270934Cold Spring Harbor Laboratory Press2018-02-28
<![CDATA[
Crystallizing the Parkinson’s Disease Protein LRRK2 Under Microgravity Conditions
]]>
https://biorxiv.org/cgi/content/short/259655v1?rss=1"
Mattea, S.Baptista, M.Reichert, P.Spinale, A.Wu, J.Allaire, M.Fiske, B.Knapp, S.2018-02-04doi:10.1101/259655Cold Spring Harbor Laboratory Press2018-02-04
<![CDATA[
Three-dimensional human axon tracts derived from cerebral organoids
]]>
https://biorxiv.org/cgi/content/short/253369v1?rss=1"
Cullen, D. K.Struzyna, L. A.Jgamadze, D.Gordian-Velez, W. J.Lim, J.Wofford, K. L.Browne, K. D.Chen, H. I.2018-01-25doi:10.1101/253369Cold Spring Harbor Laboratory Press2018-01-25
<![CDATA[
Active site alanine substitutions can convert deubiquitinating enzymes into avid ubiquitin-binding domains
]]>
https://biorxiv.org/cgi/content/short/238154v1?rss=1"
Morrow, M.Morgan, M.Clerici, M.Growkova, K.Yan, M.Komander, D.Simicek, M.Sixma, T.Wolberger, C.2017-12-22doi:10.1101/238154Cold Spring Harbor Laboratory Press2017-12-22
<![CDATA[
Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference
]]>
https://biorxiv.org/cgi/content/short/236604v1?rss=1"
Young, A. L.Marinescu, R.-V. V.Oxtoby, N. P.Bocchetta, M.Yong, K.Firth, N.Cash, D. M.Thomas, D. L.Dick, K. M.Cardoso, J.van Swieten, J.Borroni, B.Galimberti, D.Masellis, M.Carmela Tartaglia, M.Rowe, J. B.Graff, C.Tagliavini, F.Frisoni, G.Laforce, R.Finger, E.Medonca, A.Sorbi, S.Warren, J. D.Crutch, S.Fox, N. C.Ourselin, S.Schott, J. M.Rohrer, J. D.Alexander, D. C.Genetic FTD Initiative GENFI,Alzheimer's Disease Neuroimaging Initiative,2017-12-21doi:10.1101/236604Cold Spring Harbor Laboratory Press2017-12-21
<![CDATA[
A clinical-anatomical signature of Parkinson’s Disease identified with partial least squares and magnetic resonance imaging
]]>
https://biorxiv.org/cgi/content/short/168989v1?rss=1"
Zeighami, Y.Fereshtehnejad, S.-M.Dadar, M.Collins, D. L.Postuma, R. B.Misic, B.Dagher, A.2017-07-27doi:10.1101/168989Cold Spring Harbor Laboratory Press2017-07-27
<![CDATA[
White Matter Hyperintensities and Cognitive Decline in de Novo Parkinson’s Disease Patients
]]>
https://biorxiv.org/cgi/content/short/230896v1?rss=1"
Dadar, M.Zeighami, Y.Yau, Y.Fereshtehnejad, S.-M.Maranzano, J.Postuma, R. B.Dagher, A.Collins, D. L.2017-12-08doi:10.1101/230896Cold Spring Harbor Laboratory Press2017-12-08
<![CDATA[
Network Connectivity Predicts Cortical Thinning and Cognitive Decline in Early Parkinson’s Disease
]]>
https://biorxiv.org/cgi/content/short/147611v1?rss=1"
Yau, Y. H. C.Zeighami, Y.Baker, T.Larcher, K.Vainik, U.Dadar, M.Fonov, V.Hagmann, P.Griffa, A.Misic, B.Collins, D. L.Dagher, A.2017-06-08doi:10.1101/147611Cold Spring Harbor Laboratory Press2017-06-08
<![CDATA[
Mapping Movement, Mood, Motivation, and Mentation in the Subthalamic Nucleus
]]>
https://biorxiv.org/cgi/content/short/168302v1?rss=1"
Gourisankar, A.Eisenstein, S. A.Trapp, N. T.Koller, J. M.Campbell, M. C.Ushe, M.Perlmutter, J. S.Hershey, T.Black, K. J.2017-07-27doi:10.1101/168302Cold Spring Harbor Laboratory Press2017-07-27
<![CDATA[
Identification of β-synuclein on secretory granules in chromaffin cells and the effects of α- and β-synuclein on BDNF discharge following fusion
]]>
https://biorxiv.org/cgi/content/short/158220v1?rss=1"
Bittner, M. A.Bohannon, K. P.Axelrod, D.Holz, R. W.2017-06-30doi:10.1101/158220Cold Spring Harbor Laboratory Press2017-06-30
<![CDATA[
Temporal order of Alzheimer’s disease-related cognitive marker changes in BLSA and WRAP longitudinal studies
]]>
https://biorxiv.org/cgi/content/short/081174v1?rss=1"
Bilgel, M.Koscik, R. L.An, Y.Prince, J. L.Resnick, S. M.Johnson, S. C.Jedynak, B. M.2016-10-14doi:10.1101/081174Cold Spring Harbor Laboratory Press2016-10-14
<![CDATA[
Nonsinusoidal oscillations underlie pathological phase-amplitude coupling in the motor cortex in Parkinson’s disease
]]>
https://biorxiv.org/cgi/content/short/049304v1?rss=1"
Scott R ColeErik J PetersonRoemer van der MeijCoralie de HemptinnePhilip A StarrBradley Voytek2016-04-19doi:10.1101/049304Cold Spring Harbor Laboratory Press2016-04-19
<![CDATA[
Novel bioinformatics approach to investigate quantitative phenotype-genotype associations in neuroimaging studies
]]>
https://biorxiv.org/cgi/content/short/015065v1?rss=1"
Sejal PatelMin Tae M ParkMallar M ChakravartyJo Knight2015-02-10doi:10.1101/015065Cold Spring Harbor Laboratory Press2015-02-10
<![CDATA[
Llamanade: an open-source computational pipeline for robust nanobody humanization
]]>
https://biorxiv.org/cgi/content/short/2021.08.03.455003v1?rss=1"
Sang, Z.Xiang, Y.Bahar, I.Shi, Y.2021-08-04doi:10.1101/2021.08.03.455003Cold Spring Harbor Laboratory Press2021-08-04
<![CDATA[
Trafficking of the glutamate transporter is impaired in LRRK2-related Parkinson's disease
]]>
https://biorxiv.org/cgi/content/short/2021.08.04.455053v1?rss=1"
Iovino, L.Giusti, V.Pischedda, F.Giusto, E.Plotegher, N.Marte, A.Battisti, I.Di Iacovo, A.Marku, A.Piccoli, G.Bandopadhyay, R.Perego, C.Bonifacino, T.Bonanno, G.Roseti, C.Bossi, E.Arrigoni, G.Bubacco, L.Greggio, E.Hilfiker, S.Civiero, L.2021-08-05doi:10.1101/2021.08.04.455053Cold Spring Harbor Laboratory Press2021-08-05
<![CDATA[
Absence of Sac2/INPP5F enhances the phenotype of a Parkinson's disease mutation of synaptojanin 1
]]>
https://biorxiv.org/cgi/content/short/2020.01.21.914317v1?rss=1"
Cao, M.Park, D.Wu, Y.De Camilli, P.2020-01-21doi:10.1101/2020.01.21.914317Cold Spring Harbor Laboratory Press2020-01-21
<![CDATA[
SparkINFERNO: A scalable high-throughput pipeline for inferring molecular mechanisms of non-coding genetic variants
]]>
https://biorxiv.org/cgi/content/short/2020.01.07.897579v1?rss=1"
Kuksa, P. P.Lee, C.-Y.Amlie-Wolf, A.Gangadharan, P.Mlynarski, E. E.Chou, Y.-F.Lin, H.-J.Issen, H.Greenfest-Allen, E.Valladares, O.Leung, Y. Y.Wang, L.-S.2020-01-08doi:10.1101/2020.01.07.897579Cold Spring Harbor Laboratory Press2020-01-08
<![CDATA[
LRRK2 causes centrosomal deficits via phosphorylated Rab10 and RILPL1 at centriolar subdistal appendages
]]>
https://biorxiv.org/cgi/content/short/2021.08.23.457380v1?rss=1"
Ordonez, A. J. L.Fernandez, B.Fasiczka, R.Naaldijk, Y.Fdez, E.Blanca Ramirez, M.Phan, S.Boassa, D.Hilfiker, S.2021-08-24doi:10.1101/2021.08.23.457380Cold Spring Harbor Laboratory Press2021-08-24
<![CDATA[
Nanobodies as allosteric modulators of Parkinson's disease-associated LRRK2
]]>
https://biorxiv.org/cgi/content/short/2021.08.30.458082v1?rss=1"
Singh, R. K.Soliman, A.Guaitoli, G.Störmer, E.von Zweydorf, F.Dal Maso, T.Van Rillaer, L.Schmidt, S. H.Chatterjee, D.Pardon, E.Knapp, S.Kennedy, E. J.Steyaert, J.Herberg, F. W.Kortholt, A.Gloeckner, C. J.Versees, W.2021-08-30doi:10.1101/2021.08.30.458082Cold Spring Harbor Laboratory Press2021-08-30
<![CDATA[
Rapid dynamic naturalistic monitoring of bradykinesia in Parkinson's disease using a wrist-worn accelerometer
]]>
https://biorxiv.org/cgi/content/short/2021.09.03.458142v1?rss=1"
Habets, J.Herff, C.Kubben, P. L.Kuijf, M. L.Temel, Y.Evers, L. J.Bloem, B.Starr, P. A.Gilron, R.Little, S. J.2021-09-05doi:10.1101/2021.09.03.458142Cold Spring Harbor Laboratory Press2021-09-05
<![CDATA[
Mapping of a N-terminal α-helix domain required for human PINK1 stabilisation, Serine228 autophosphorylation and activation in cells
]]>
https://biorxiv.org/cgi/content/short/2021.09.06.459138v1?rss=1"
Kakade, P.Ojha, H.Raimi, O.Shaw, A.Waddell, A.Ault, J.Burel, S.Brockmann, K.Kumar, A.Ahanger, M.Krysztofinska, E.Macartney, T.Bayliss, R.Fitzgerald, J. C.Muqit, M.2021-09-06doi:10.1101/2021.09.06.459138Cold Spring Harbor Laboratory Press2021-09-06
<![CDATA[
PhosPiR: An automated phospho-proteomic pipeline in R
]]>
https://biorxiv.org/cgi/content/short/2021.09.14.460225v1?rss=1"
Hong, Y.Flinkman, D.Suomi, T.Pietila, S.James, P.Coffey, E.Elo, L. L.2021-09-15doi:10.1101/2021.09.14.460225Cold Spring Harbor Laboratory Press2021-09-15
<![CDATA[
The activities of LRRK2 and GCase are positively correlated in clinical biospecimens and experimental models of Parkinson's disease
]]>
https://biorxiv.org/cgi/content/short/2021.09.27.461935v1?rss=1"
Kedariti, M.Frattini, E.Baden, P.Cogo, S.Civiero, L.Ziviani, E.Aureli, M.Kaganovich, A.Cookson, M. R.Stefanis, L. R.Surface, M.Deleidi, M.Di Fonzo, A.Alcalay, R. N.Rideout, H.Greggio, E.Plotegher, N.2021-09-28doi:10.1101/2021.09.27.461935Cold Spring Harbor Laboratory Press2021-09-28
<![CDATA[
Specific Detection of Endogenous S129 Phosphorylated α-Synuclein in Tissue Using Proximity Ligation Assay
]]>
https://biorxiv.org/cgi/content/short/2021.09.28.461511v1?rss=1"
Arlinghaus, R.Iba, M.Masliah, E.Cookson, M. R.Landeck, N.2021-09-29doi:10.1101/2021.09.28.461511Cold Spring Harbor Laboratory Press2021-09-29
<![CDATA[
Two helices control the dynamic crosstalk between the catalytic domains of LRRK2
]]>
https://biorxiv.org/cgi/content/short/2021.09.29.462278v1?rss=1"
Weng, J.-H.Aoto, P. C.Lorenz, R.Wu, J.Schmidt, S. H.Manschwetus, J. T.Kaila-Sharma, P.Mathea, S.Knapp, S.Herberg, F. W.Taylor, S. S.2021-09-29doi:10.1101/2021.09.29.462278Cold Spring Harbor Laboratory Press2021-09-29
<![CDATA[
Structure-Functional-Selectivity Relationship Studies on A-86929 Analogs and Small Fragments toward Discovery of D1 agonists
]]>
https://biorxiv.org/cgi/content/short/2021.10.01.462758v1?rss=1"
Li, H.Mirabel, R.Ghiviriga, I.Phidd, D. K.Horenstein, N. M.Urs, N. M.2021-10-01doi:10.1101/2021.10.01.462758Cold Spring Harbor Laboratory Press2021-10-01
<![CDATA[
The LRRK2 kinase substrates Rab8a and Rab10 contribute complementary but distinct disease-relevant phenotypes in human neurons
]]>
https://biorxiv.org/cgi/content/short/2023.04.30.538317v1?rss=1"
Mamais, A.Sanyal, A.Fajfer, A.Zykoski, C. G.Guldin, M.Riley-DiPaolo, A.Subrahmanian, N.Gibbs, W. S.Lin, S.LaVoie, M. J.2023-04-30doi:10.1101/2023.04.30.538317Cold Spring Harbor Laboratory Press2023-04-30
<![CDATA[
Pharmacological PINK1 activation ameliorates Pathology in Parkinson's Disease models
]]>
https://biorxiv.org/cgi/content/short/2023.02.14.528378v1?rss=1"
Chin, R. M.Rakhit, R.Ditsworth, D.Wang, C.Bartholomeus, J.Liu, S.Mody, A.Laihsu, A.Eastes, A.Tai, C.Kim, R.Li, J.Hansberry, S.Khasnavis, S.Rafalski, V.Heerendeen, D.Garda, V.Phung, J.de Roulet, D.Ordureau, A.Harper, J. W.Johnstone, S.Stoehr, J.Hertz, N. T.2023-02-15doi:10.1101/2023.02.14.528378Cold Spring Harbor Laboratory Press2023-02-15
<![CDATA[
Parallel Neurodegenerative Phenotypes in Sporadic Parkinsons Disease Fibroblasts and Midbrain Dopamine Neurons
]]>
https://biorxiv.org/cgi/content/short/2023.02.10.527867v1?rss=1"
Corenblum, M. J.McRobbie-Johnson, A.Carruth, E.Bernard, K.Luo, M.Mandarino, L. J.Peterson, S.Billheimer, D.Maley, T.Eggers, E. D.Madhavan, L.2023-02-12doi:10.1101/2023.02.10.527867Cold Spring Harbor Laboratory Press2023-02-12
<![CDATA[
Scalable, flexible carbon fiber electrode thread arrays for three-dimensional spatial profiling of neurochemical activity in deep brain structures of rodents
]]>
https://biorxiv.org/cgi/content/short/2023.04.15.537033v1?rss=1"
Xia, M.Agca, B. N.Yoshida, T.Choi, J.Amjad, U.Bose, K.Keren, N.Zukerman, S.Cima, M. J.Graybiel, A. M.Schwerdt, H. N.2023-04-17doi:10.1101/2023.04.15.537033Cold Spring Harbor Laboratory Press2023-04-17
<![CDATA[
Splicing accuracy varies across human introns, tissues and age
]]>
https://biorxiv.org/cgi/content/short/2023.03.29.534370v1?rss=1"
Garcia-Ruiz, S.Zhang, D.Gustavsson, E. K.Rocamora-Perez, G.Grant-Peters, M.Fairbrother-Browne, A.Reynolds, R. H.Brenton, J. W.Gil-Martinez, A. L.Chen, Z.Rio, D. C.Botia, J. A.Guelfi, S.Collado-Torres, L.Ryten, M.2023-03-30doi:10.1101/2023.03.29.534370Cold Spring Harbor Laboratory Press2023-03-30
<![CDATA[
Lifespan Neurodegeneration Of The Human Brain In Multiple Sclerosis
]]>
https://biorxiv.org/cgi/content/short/2023.03.14.532535v1?rss=1"
Coupe, P.Planche, V.Mansencal, B.Kamraoui, R. A.Koubiyr, I.Manjon, J.Tourdias, T.2023-03-14doi:10.1101/2023.03.14.532535Cold Spring Harbor Laboratory Press2023-03-14
<![CDATA[
hipFG: High-throughput harmonization and integration pipeline for functional genomics data
]]>
https://biorxiv.org/cgi/content/short/2023.04.21.537695v1?rss=1"
Cifello, J.Kuksa, P. P.Saravanan, N.Valladares, O.Leung, Y. Y.Wang, L.-S.2023-04-25doi:10.1101/2023.04.21.537695Cold Spring Harbor Laboratory Press2023-04-25
<![CDATA[
Structure of alpha-synuclein fibrils derived from human Lewy body dementia tissue
]]>
https://biorxiv.org/cgi/content/short/2023.01.09.523303v1?rss=1"
Dhavale, D. D.Barclay, A. M.Borcik, C. G.Basore, K.Gordon, I. R.Liu, J.Milchberg, M. H.O'Shea, J. Y.Rau, M. J.Smith, Z.Sen, S.Summers, B.Smith, J. W.Warmuth, O. A.Chen, Q.Fitzpatrick, J. A. J.Schwieters, C. D.Tajkhorshid, E.Rienstra, C. M.Kotzbauer, P. T.2023-01-10doi:10.1101/2023.01.09.523303Cold Spring Harbor Laboratory Press2023-01-10
<![CDATA[
Nuclease-dead S. aureus Cas9 downregulates alpha-synuclein and reduces mtDNA damage and oxidative stress levels in patient-derived stem cell model of Parkinson's disease
]]>
https://biorxiv.org/cgi/content/short/2023.01.24.525105v1?rss=1"
Sastre, D.Zafar, F.Torres, C. A. M.Piper, D.Kirik, D.Sanders, L. H.Qi, S.Schuele, B.2023-01-24doi:10.1101/2023.01.24.525105Cold Spring Harbor Laboratory Press2023-01-24
<![CDATA[
Circular RNAs in the human brain are tailored to neuron identity and neuropsychiatric disease
]]>
https://biorxiv.org/cgi/content/short/2023.04.01.535194v1?rss=1"
Dong, X.Bai, Y.Liao, Z.Gritsch, D.Liu, X.Wang, T.Borges-Monroy, R.Ehrlich, A.Serano, G. E.Feany, M. B.Beach, T. G.Scherzer, C. R.2023-04-03doi:10.1101/2023.04.01.535194Cold Spring Harbor Laboratory Press2023-04-03
<![CDATA[
O-GlcNAc modification forces the formation of an α-Synuclein amyloid-strain with notably diminished seeding activity and pathology
]]>
https://biorxiv.org/cgi/content/short/2023.03.07.531573v1?rss=1"
Balana, A. T.Mahul-Mellier, A.-L.Nguyen, B. A.Javed, A.Hard, E. R.Jasiqi, Y.Singh, P.Pedretti, R.Singh, V.Lee, V. M.-Y.Luk, K. C.Lashuel, H. R.Pratt, M. R.2023-03-07doi:10.1101/2023.03.07.531573Cold Spring Harbor Laboratory Press2023-03-07
<![CDATA[
Proteostasis and lysosomal quality control deficits in Alzheimer's disease neurons
]]>
https://biorxiv.org/cgi/content/short/2023.03.27.534444v1?rss=1"
Chou, C.-C.Vest, R.Prado, M. A.Wilson-Grady, J.Paulo, J. A.Shibuya, Y.Moran-Losada, P.Lee, T.-T.Luo, J.Gygi, S. P.Kelly, J. W.Finley, D.Wernig, M.Wyss-Coray, T.Frydman, J.2023-03-27doi:10.1101/2023.03.27.534444Cold Spring Harbor Laboratory Press2023-03-27
<![CDATA[
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation
]]>
https://biorxiv.org/cgi/content/short/2023.01.12.523790v1?rss=1"
Kolmogorov, M.Billingsley, K. J.Mastoras, M.Meredith, M.Monlong, J.Lorig-Roach, R.Asri, M.Alvarez Jerez, P.Malik, L.Dewan, R.Reed, X.Genner, R. M.Daida, K.Behera, S.Shafin, K.Pesout, T.Prabakaran, J.Carnevali, P.North American Brain Expression Consortium (NABEC),Yang, J.Rhie, A.Scholz, S. W.Traynor, B. J.Miga, K. H.Jain, M.Timp, W.Phillippy, A. M.Chaisson, M.Sedlazeck, F. J.Blauwendraat, C.Paten, B.2023-01-15doi:10.1101/2023.01.12.523790Cold Spring Harbor Laboratory Press2023-01-15
<![CDATA[
Neurophysiological signatures of cortical micro-architecture
]]>
https://biorxiv.org/cgi/content/short/2023.01.23.525101v1?rss=1"
Shafiei, G.Fulcher, B. D.Voytek, B.Satterthwaite, T. D.Baillet, S.Misic, B.2023-01-23doi:10.1101/2023.01.23.525101Cold Spring Harbor Laboratory Press2023-01-23
<![CDATA[
TNF-NFkB-p53 axis restricts in vivo survival of hPSC-derived dopamine neuron
]]>
https://biorxiv.org/cgi/content/short/2023.03.29.534819v1?rss=1"
Kim, T. W.Koo, S. Y.Riessland, M.Cho, H.Chaudhry, F.Kolisnyk, B.Russo, M. V.Saurat, N.Mehta, S.Garippa, R.Betel, D.Studer, L.2023-03-31doi:10.1101/2023.03.29.534819Cold Spring Harbor Laboratory Press2023-03-31
<![CDATA[
Transitions between cognitive topographies: contributions of network structure, neuromodulation, and disease
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https://biorxiv.org/cgi/content/short/2023.03.16.532981v1?rss=1"
Luppi, A. I.Singleton, S. P. I.Hansen, J. Y.Bzdok, D.Kuceyeski, A.Betzel, R.Misic, B.2023-03-17doi:10.1101/2023.03.16.532981Cold Spring Harbor Laboratory Press2023-03-17
<![CDATA[
Prospective role of PAK6 and 14-3-3 gamma as biomarkers for Parkinson's disease
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https://biorxiv.org/cgi/content/short/2023.04.28.538525v1?rss=1"
Giusto, E.Maistrello, L.Iannotta, L.Giusti, V.Iovino, L.Bandopadhyay, R.Antonini, A.Bubacco, L.Barresi, R.Plotegher, N.Greggio, E.Civiero, L.2023-04-28doi:10.1101/2023.04.28.538525Cold Spring Harbor Laboratory Press2023-04-28
<![CDATA[
From Policy to Practice: Tracking an Open Science Funding Initiative
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https://biorxiv.org/cgi/content/short/2023.02.27.530238v1?rss=1"
Ratan, K.McIntosh, S.Shah, H. V.Lewis, M.Dumanis, S. B.Vines, T. H.Schekman, R.Riley, E. A. U.2023-02-28doi:10.1101/2023.02.27.530238Cold Spring Harbor Laboratory Press2023-02-28
<![CDATA[
Protein network analysis links the NSL complex to Parkinson's disease and mitochondrial biology
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https://biorxiv.org/cgi/content/short/2023.01.27.524249v1?rss=1"
Kelly, K.Lewis, P.Plun-Favreau, H.Manzoni, C.2023-01-27doi:10.1101/2023.01.27.524249Cold Spring Harbor Laboratory Press2023-01-27
<![CDATA[
Simultaneous Determination of Size and Shape of Single alpha-Synuclein Oligomers in Solution
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https://biorxiv.org/cgi/content/short/2023.01.09.523202v1?rss=1"
Awasthi, S.Ying, C.Li, J.Mayer, M.2023-01-09doi:10.1101/2023.01.09.523202Cold Spring Harbor Laboratory Press2023-01-09
<![CDATA[
A potential patient stratification biomarker for Parkinson's disease based on LRRK2 kinase-mediated centrosomal alterations in peripheral blood-derived cells
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https://biorxiv.org/cgi/content/short/2023.04.11.536367v1?rss=1"
Naaldijk, Y.Fernandez, B.Fasiczka, R.Fdez, E.Leghay, C.Croitoru, I.Kwok, J. B.Boulesnane, Y.Vizeneux, A.Mutez, E.Calvez, C.Destee, A.Taymans, J.-M.Vinagre Aragon, A.Bergareche Yarza, A.Padmanabhan, S.Delgado, M.Alcalay, R. N.Chatterton, Z.Dzamko, N.Halliday, G.Ruiz-Martinez, J.Chartier-Harlin, M.-C.Hilfiker, S.2023-04-12doi:10.1101/2023.04.11.536367Cold Spring Harbor Laboratory Press2023-04-12
<![CDATA[
Regulation of Human PINK1 ubiquitin kinase by Serine167, Serine228 and Cysteine412 phosphorylation
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https://biorxiv.org/cgi/content/short/2023.03.31.534916v1?rss=1"
Waddell, A.Ojha, H.Agarwal, S.Clarke, C.Terriente-Felix, A.Zhou, H.Kakade, P.Knebel, A.Shaw, A.Gourlay, R.Varghese, J.Soares, R.Toth, R.Macartney, T.Eyers, P.Morrice, N.Bayliss, R.Whitworth, A. J.Eyers, C.Muqit, M.2023-04-01doi:10.1101/2023.03.31.534916Cold Spring Harbor Laboratory Press2023-04-01
<![CDATA[
Investigation of Volatile Metabolites in Sebum as Prodromal Indicators of Parkinson's Disease
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https://biorxiv.org/cgi/content/short/2023.03.01.530578v1?rss=1"
Walton-Doyle, C.Heim, B.Sinclair, E.Hollywood, K.Milne, J.Holzknecht, E.Stefani, A.Hogl, B.Seppi, K.Silverdale, M.Poewe, W.Barran, P.Trivedi, D. K.2023-03-02doi:10.1101/2023.03.01.530578Cold Spring Harbor Laboratory Press2023-03-02
<![CDATA[
Genetic screening identifies integrated stress response kinase HRI (EIF2AK1) as a negative regulator of PINK1 and mitophagy signalling
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https://biorxiv.org/cgi/content/short/2023.03.20.533516v1?rss=1"
Singh, P.Volpi, I.Agarwal, S.Wilhelm, L. P.Becchi, G.Macartney, T.Toth, R.Rousseau, A.Masson, G.Ganley, I. G.Muqit, M. M. K.2023-03-22doi:10.1101/2023.03.20.533516Cold Spring Harbor Laboratory Press2023-03-22
<![CDATA[
α-synuclein expression in response to bacterial ligands and metabolites in gut enteroendocrine cells
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https://biorxiv.org/cgi/content/short/2023.04.02.535274v1?rss=1"
Hurley, M. J.Menozzi, E.Koletsi, S.Bates, R.Gegg, M. E.Chau, K.-Y.Blottiere, H. M.Macnaughtan, J.Schapira, A. H. V.2023-04-02doi:10.1101/2023.04.02.535274Cold Spring Harbor Laboratory Press2023-04-02
<![CDATA[
Longitudinal brain structure changes in Parkinson's disease: a replication study
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https://biorxiv.org/cgi/content/short/2023.04.28.538743v1?rss=1"
Sokolowski, A.Bhagwat, N.Chatelain, Y.Dugre, M.Hanganu, A.Monchi, O.McPherson, B.Wang, M.Poline, J.-B.Sharp, M.Glatard, T.2023-04-29doi:10.1101/2023.04.28.538743Cold Spring Harbor Laboratory Press2023-04-29
<![CDATA[
Astrocytic LRRK2 Controls Synaptic Connectivity through ERM Phosphorylation
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https://biorxiv.org/cgi/content/short/2023.04.09.536178v1?rss=1"
Wang, S.Sivadasan Bindu, D.Tan, C. X.Sakers, K.Takano, T.Rodriguez Salazar, M. P.Dimond, K.Soderling, S. H.La Spada, A. R.Eroglu, C.2023-04-10doi:10.1101/2023.04.09.536178Cold Spring Harbor Laboratory Press2023-04-10
<![CDATA[
Diverging Parkinson's Disease Pathology between GBAN370S ,LRRK2G2019S and engineered SNCAA53T iPSC-derived Dopaminergic Neurons
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https://biorxiv.org/cgi/content/short/2023.01.06.521264v1?rss=1"
Fathi, A.Bakshy, K.Zieghami, L.Fiene, R.Bradley, R.Dickerson, S.Carlson, C.Schachtele, S.Liu, J.2023-01-07doi:10.1101/2023.01.06.521264Cold Spring Harbor Laboratory Press2023-01-07
<![CDATA[
MerTK mediates the immunologically silent uptake of alpha-synuclein fibrils by human microglia
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https://biorxiv.org/cgi/content/short/2023.03.04.531108v1?rss=1"
Dorion, M.-F.Senkevich, K.Yaqubi, M.Kieran, N. W.Chen, C. X.- Q.MacDonald, A.Luo, W.Wallis, A.Shlaifer, I.Hall, J.Dudley, R. W. R.Glass, I. A.Birth Defects Research Laboratory,Straton, J. A.Fon, E. A.Bartels, T.Antel, J. P.Gan-Or, Z.Durcan, T. M.Healy, L. M.2023-03-05doi:10.1101/2023.03.04.531108Cold Spring Harbor Laboratory Press2023-03-05
<![CDATA[
Modulatory Effect of Levodopa on the Basal Ganglia-Cerebellum Connectivity in Parkinson's Disease
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https://biorxiv.org/cgi/content/short/2023.01.16.524229v1?rss=1"
Abulikemu, S.Tai, Y. F.Haar, S.2023-01-18doi:10.1101/2023.01.16.524229Cold Spring Harbor Laboratory Press2023-01-18
<![CDATA[
Single cell spatial transcriptomic and translatomic profiling of dopaminergic neurons in health, ageing and disease
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https://biorxiv.org/cgi/content/short/2023.04.20.537553v1?rss=1"
Kilfeather, P.Khoo, J. H.Wagner, K.Liang, H.Caiazza, M.-C.An, Y.Zhang, X.Chen, X.Connor-Robson, N.Shang, Z.Wade-Martins, R.2023-04-20doi:10.1101/2023.04.20.537553Cold Spring Harbor Laboratory Press2023-04-20
<![CDATA[
Early striatal hyperexcitability in an in vitro human striatal microcircuit model carrying the Parkinson's GBA-N370S mutation
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https://biorxiv.org/cgi/content/short/2023.03.01.530566v1?rss=1"
Do, Q. B.Ng, B.Marquez-Gomez, R.Beccano-Kelly, D.Ibarra-Aizpurua, N.Caiazza, M.-C.Lang, C.Baleriola, J.Bengoa-Vergniory, N.Wade-Martins, R.2023-03-02doi:10.1101/2023.03.01.530566Cold Spring Harbor Laboratory Press2023-03-02
<![CDATA[
Dysregulated Wnt and NFAT signaling in a Parkinson's disease LRRK2 G2019S knock-in model
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https://biorxiv.org/cgi/content/short/2023.03.31.535090v1?rss=1"
Wetzel, A.Lei, S. H.Liu, T.Hughes, M. P.Peng, Y.McKay, T.Waddington, S. N.Granno, S.Rahim, A. A.Harvey, K.2023-04-01doi:10.1101/2023.03.31.535090Cold Spring Harbor Laboratory Press2023-04-01
<![CDATA[
Genome-wide screen reveals Rab12 GTPase as a critical activator of pathogenic LRRK2 kinase
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https://biorxiv.org/cgi/content/short/2023.02.17.529028v1?rss=1"
Dhekne, H. S.Tonelli, F.Yeshaw, W. M.Chiang, C. Y.Limouse, C.Jaimon, E.Purlyte, E.Alessi, D. R.Pfeffer, S. R.2023-02-18doi:10.1101/2023.02.17.529028Cold Spring Harbor Laboratory Press2023-02-18
<![CDATA[
L1 retrotransposons drive human neuronal transcriptome complexity and functional diversification
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https://biorxiv.org/cgi/content/short/2023.03.04.531072v1?rss=1"
Garza, R.Atacho, D.Adami, A.Gerdes, P.Vinod, M.Hsieh, P.Karlsson, O.Horvath, V.Johansson, P. A.Pandiloski, N.Matas, J.Quaegebeur, A.Kouli, A.Sharma, Y.Jonsson, M. E.Monni, E.Englund, E.Eichler, E. E.Gale Hammell, M.Barker, R. A.Kokaia, Z.Douse, C. H.Jakobsson, J.2023-03-06doi:10.1101/2023.03.04.531072Cold Spring Harbor Laboratory Press2023-03-06
<![CDATA[
Tau protein aggregation associated with SARS-CoV-2 main protease
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https://biorxiv.org/cgi/content/short/2023.03.04.531078v1?rss=1"
Eberle, R. J.Coronado, M. A.Gering, I.Korostov, K.Stefanski, A.Stuehler, K.Kraemer-Schulien, V.Bloemeke, L.Bannach, O.Willbold, D.2023-03-06doi:10.1101/2023.03.04.531078Cold Spring Harbor Laboratory Press2023-03-06
<![CDATA[
Adult-specific Reelin expression alters striatal neuronal organization. Implications for neuropsychiatric disorders.
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https://biorxiv.org/cgi/content/short/2023.01.21.525025v1?rss=1"
Pardo, M.Gregorio, S.Montalban, E.Pujadas, L.Elias-Tersa, A.Masachs, N.Vilchez-Acosta, A.Parent, A.Auladell, C.Girault, J. A.Vila, M.Nairn, A. C.Manso, Y.Soriano, E.2023-01-22doi:10.1101/2023.01.21.525025Cold Spring Harbor Laboratory Press2023-01-22
<![CDATA[
The chromatin modulating NSL complex regulates genes and pathways genetically linked to Parkinsons disease
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https://biorxiv.org/cgi/content/short/2023.01.16.523926v1?rss=1"
Hicks, A. R.Reynolds, R. H.O'Callaghan, B.Garcia Ruiz, S.Gil Martinez, A. L.Botia, J. A.Plun-Favreau, H.Ryten, M.2023-01-18doi:10.1101/2023.01.16.523926Cold Spring Harbor Laboratory Press2023-01-18
<![CDATA[
Post-fibrillization nitration of alpha-synuclein abolishes its seeding activity and pathology formation in primary neurons and in vivo
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https://biorxiv.org/cgi/content/short/2023.03.24.534149v1?rss=1"
Donzelli, S.OSullivan, S.Mahul-Mellier, A.-L.Ulusoy, A.Fusco, G.Kumar, S. T.Chiki, A.Burtscher, J.Boussouf, M. L. D.Rostami, I.De Simone, A. D. S.Di Monte, D. A.Lashuel, H. A.2023-03-25doi:10.1101/2023.03.24.534149Cold Spring Harbor Laboratory Press2023-03-25