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187 Articles

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Analysis of common and rare VPS13C variants in late onset Parkinson disease
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.
10.1101/705533 — Posted: 2019-09-22
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
Kumar, S. T., Donzelli, S., Chiki, A., Syed, M. M. K., Lashuel, H.
10.1101/772160 — Posted: 2019-09-21
Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinsons disease
Whiffin, N., Armean, I. M., Kleinman, A., Marshall, J. L., Minikel, E. V., Goodrich, J. K., Quaife, N. M., Cole, J. B., Wang, Q., Karczewski, K. J., Cummings, B. B., Francioli, L., Laricchia, K., 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., A
10.1101/561472 — Posted: 2019-09-18
PINK1-dependent phosphorylation of Serine111 within the SF3 motif of Rab GTPases impairs effector interactions and LRRK2 mediated phosphorylation at Threonine72
Vieweg, S., Mulholland, K., Braeuning, B., Kachariya, N., Lai, Y.-C., Toth, R., Sattler, M., Groll, M., Itzen, A., Muqit, M.
10.1101/764019 — Posted: 2019-09-12
Fine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies
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., M
10.1101/756528 — Posted: 2019-09-04
A genome-wide genetic pleiotropy approach identified shared loci between multiple system atrophy and inflammatory bowel disease
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.
10.1101/751354 — Posted: 2019-08-31
An assessment of LRRK2 serine 935 phosphorylation in human peripheral blood mononuclear cells in idiopathic Parkinson’s disease and G2019S LRRK2 cohorts
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.
10.1101/749226 — Posted: 2019-08-29
Structural basis for Rab8a GTPase recruitment of RILPL2 via LRRK2 phosphorylation of switch 2
Khan, A. R., Alessi, D. R., Waschbusch, D., Purlyte, E., Pal, P., McGrath, E.
10.1101/739813 — Posted: 2019-08-19
Genetic modifiers of risk and age at onset in GBA associated Parkinson disease and Lewy body dementia
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., Ple
10.1101/738351 — Posted: 2019-08-18
Penetrance of Parkinson’s disease in LRRK2 p.G2019S carriers is modified by a polygenic risk score
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., International Parkinson Disease Genomics Consortium (IPDGC)
10.1101/738260 — Posted: 2019-08-16

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