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Huntingtin contains an ubiquitin-binding domain and regulates lysosomal targeting of mitochondrial and RNA-binding proteins.
Fote GM, Eapen VV, Lim RG, Yu C, Salazar L, McClure NR, McKnight J, Nguyen TB, Heath MC, Lau AL, Villamil MA, Miramontes R, Kratter IH, Finkbeiner S, Reidling JC, Paulo JA, Kaiser P, Huang L, Housman DE, Thompson LM, Steffan JS. Fote GM, et al. Among authors: finkbeiner s. Proc Natl Acad Sci U S A. 2024 Aug 6;121(32):e2319091121. doi: 10.1073/pnas.2319091121. Epub 2024 Jul 29. Proc Natl Acad Sci U S A. 2024. PMID: 39074279 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.
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.
An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients.
NeuroLINCS Consortium; Li J, Lim RG, Kaye JA, Dardov V, Coyne AN, Wu J, Milani P, Cheng A, Thompson TG, Ornelas L, Frank A, Adam M, Banuelos MG, Casale M, Cox V, Escalante-Chong R, Daigle JG, Gomez E, Hayes L, Holewenski R, Lei S, Lenail A, Lima L, Mandefro B, Matlock A, Panther L, Patel-Murray NL, Pham J, Ramamoorthy D, Sachs K, Shelley B, Stocksdale J, Trost H, Wilhelm M, Venkatraman V, Wassie BT, Wyman S, Yang S; NYGC ALS Consortium; Van Eyk JE, Lloyd TE, Finkbeiner S, Fraenkel E, Rothstein JD, Sareen D, Svendsen CN, Thompson LM. NeuroLINCS Consortium, et al. Among authors: finkbeiner s. iScience. 2021 Oct 12;24(11):103221. doi: 10.1016/j.isci.2021.103221. eCollection 2021 Nov 19. iScience. 2021. PMID: 34746695 Free PMC article.
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF; American Genome Center (TAGC); FALS Sequencing Consortium; Genomics England Research Consortium; International ALS/FTD Genomics Consortium (iAFGC); International FTD Genetics Consortium (IFGC); International LBD Genomics Consortium (iLBDGC); NYGC ALS Consortium; PROSPECT Consortium; Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, Torkamani A, Tanaka T, Ferrucci L, Resnick SM, Pickering-Brown S, Brady CB, Kowal N, Hardy JA, Van Deerlin V, Vonsattel JP, Harms MB, Morris HR, Ferrari R, Landers JE, Chiò A, Gibbs JR, Dalgard CL, Scholz SW, Traynor BJ. Dewan R, et al. Neuron. 2021 Feb 3;109(3):448-460.e4. doi: 10.1016/j.neuron.2020.11.005. Epub 2020 Nov 26. Neuron. 2021. PMID: 33242422 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.
Identifying patterns in amyotrophic lateral sclerosis progression from sparse longitudinal data.
Ramamoorthy D, Severson K, Ghosh S, Sachs K; Answer ALS; Glass JD, Fournier CN; Pooled Resource Open-Access ALS Clinical Trials Consortium; ALS/MND Natural History Consortium; Herrington TM, Berry JD, Ng K, Fraenkel E. Ramamoorthy D, et al. Nat Comput Sci. 2022 Sep;2(9):605-616. doi: 10.1038/s43588-022-00299-w. Epub 2022 Sep 8. Nat Comput Sci. 2022. PMID: 38177466 Free PMC article.
239 results