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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.
Baxi EG, Thompson T, Li J, Kaye JA, Lim RG, Wu J, Ramamoorthy D, Lima L, Vaibhav V, Matlock A, Frank A, Coyne AN, Landin B, Ornelas L, Mosmiller E, Thrower S, Farr SM, Panther L, Gomez E, Galvez E, Perez D, Meepe I, Lei S, Mandefro B, Trost H, Pinedo L, Banuelos MG, Liu C, Moran R, Garcia V, Workman M, Ho R, Wyman S, Roggenbuck J, Harms MB, Stocksdale J, Miramontes R, Wang K, Venkatraman V, Holewenski R, Sundararaman N, Pandey R, Manalo DM, Donde A, Huynh N, Adam M, Wassie BT, Vertudes E, Amirani N, Raja K, Thomas R, Hayes L, Lenail A, Cerezo A, Luppino S, Farrar A, Pothier L, Prina C, Morgan T, Jamil A, Heintzman S, Jockel-Balsarotti J, Karanja E, Markway J, McCallum M, Joslin B, Alibazoglu D, Kolb S, Ajroud-Driss S, Baloh R, Heitzman D, Miller T, Glass JD, Patel-Murray NL, Yu H, Sinani E, Vigneswaran P, Sherman AV, Ahmad O, Roy P, Beavers JC, Zeiler S, Krakauer JW, Agurto C, Cecchi G, Bellard M, Raghav Y, Sachs K, Ehrenberger T, Bruce E, Cudkowicz ME, Maragakis N, Norel R, Van Eyk JE, Finkbeiner S, Berry J, Sareen D, Thompson LM, Fraenkel E, Svendsen CN, Rothstein JD. Baxi EG, et al. Among authors: finkbeiner s. Nat Neurosci. 2022 Feb;25(2):226-237. doi: 10.1038/s41593-021-01006-0. Epub 2022 Feb 3. Nat Neurosci. 2022. PMID: 35115730 Free PMC article.
The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity.
Stormo AED, Shavarebi F, FitzGibbon M, Earley EM, Ahrendt H, Lum LS, Verschueren E, Swaney DL, Skibinski G, Ravisankar A, van Haren J, Davis EJ, Johnson JR, Von Dollen J, Balen C, Porath J, Crosio C, Mirescu C, Iaccarino C, Dauer WT, Nichols RJ, Wittmann T, Cox TC, Finkbeiner S, Krogan NJ, Oakes SA, Hiniker A. Stormo AED, et al. Among authors: finkbeiner s. J Cell Biol. 2022 Apr 4;221(4):e202010065. doi: 10.1083/jcb.202010065. Epub 2022 Mar 10. J Cell Biol. 2022. PMID: 35266954 Free PMC article.
NeuroLINCS Proteomics: Defining human-derived iPSC proteomes and protein signatures of pluripotency.
Matlock AD, Vaibhav V, Holewinski R, Venkatraman V, Dardov V, Manalo DM, Shelley B, Ornelas L, Banuelos M, Mandefro B, Escalante-Chong R, Li J, Finkbeiner S, Fraenkel E, Rothstein J, Thompson L, Sareen D, Svendsen CN; NIH NeuroLINCS Consortium; Van Eyk JE. Matlock AD, et al. Among authors: finkbeiner s. Sci Data. 2023 Jan 11;10(1):24. doi: 10.1038/s41597-022-01687-7. Sci Data. 2023. PMID: 36631473 Free PMC article.
Large-scale differentiation of iPSC-derived motor neurons from ALS and control subjects.
Workman MJ, Lim RG, Wu J, Frank A, Ornelas L, Panther L, Galvez E, Perez D, Meepe I, Lei S, Valencia V, Gomez E, Liu C, Moran R, Pinedo L, Tsitkov S, Ho R, Kaye JA; Answer ALS Consortium; Thompson T, Rothstein JD, Finkbeiner S, Fraenkel E, Sareen D, Thompson LM, Svendsen CN. Workman MJ, et al. Among authors: finkbeiner s. Neuron. 2023 Apr 19;111(8):1191-1204.e5. doi: 10.1016/j.neuron.2023.01.010. Epub 2023 Feb 9. Neuron. 2023. PMID: 36764301 Free PMC article.
The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism.
Bressan E, Reed X, Bansal V, Hutchins E, Cobb MM, Webb MG, Alsop E, Grenn FP, Illarionova A, Savytska N, Violich I, Broeer S, Fernandes N, Sivakumar R, Beilina A, Billingsley KJ, Berghausen J, Pantazis CB, Pitz V, Patel D, Daida K, Meechoovet B, Reiman R, Courtright-Lim A, Logemann A, Antone J, Barch M, Kitchen R, Li Y, Dalgard CL; American Genome Center; Rizzu P, Hernandez DG, Hjelm BE, Nalls M, Gibbs JR, Finkbeiner S, Cookson MR, Van Keuren-Jensen K, Craig DW, Singleton AB, Heutink P, Blauwendraat C. Bressan E, et al. Among authors: finkbeiner s. Cell Genom. 2023 Feb 6;3(3):100261. doi: 10.1016/j.xgen.2023.100261. eCollection 2023 Mar 8. Cell Genom. 2023. PMID: 36950378 Free PMC article.
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Bras J, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB, Cookson MR; COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease) Consortium, the French Parkinson’s Disease Consortium, and the International Parkinson’s Disease Genomics Consortium (IPDGC). Blauwendraat C, et al. JAMA Neurol. 2018 Nov 1;75(11):1416-1422. doi: 10.1001/jamaneurol.2018.1885. JAMA Neurol. 2018. PMID: 30039155 Free PMC article.
230 results