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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Among authors: williams kl. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.
McLaughlin RL, Schijven D, van Rheenen W, van Eijk KR, O'Brien M, Kahn RS, Ophoff RA, Goris A, Bradley DG, Al-Chalabi A, van den Berg LH, Luykx JJ, Hardiman O, Veldink JH; Project MinE GWAS Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium. McLaughlin RL, et al. Nat Commun. 2017 Mar 21;8:14774. doi: 10.1038/ncomms14774. Nat Commun. 2017. PMID: 28322246 Free PMC article.
The E3 Ubiquitin Ligase SCF Cyclin F Promotes Sequestosome-1/p62 Insolubility and Foci Formation and is Dysregulated in ALS and FTD Pathogenesis.
Davidson JM, Wu SSL, Rayner SL, Cheng F, Duncan K, Russo C, Newbery M, Ding K, Scherer NM, Balez R, García-Redondo A, Rábano A, Rosa-Fernandes L, Ooi L, Williams KL, Morsch M, Blair IP, Di Ieva A, Yang S, Chung RS, Lee A. Davidson JM, et al. Among authors: williams kl. Mol Neurobiol. 2023 Sep;60(9):5034-5054. doi: 10.1007/s12035-023-03355-2. Epub 2023 May 27. Mol Neurobiol. 2023. PMID: 37243816 Free PMC article.
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia.
Thumbadoo KM, Dieriks BV, Murray HC, Swanson MEV, Yoo JH, Mehrabi NF, Turner C, Dragunow M, Faull RLM, Curtis MA, Siddique T, Shaw CE, Newell KL, Henden L, Williams KL, Nicholson GA, Scotter EL. Thumbadoo KM, et al. Among authors: williams kl. Brain. 2024 May 4:awae140. doi: 10.1093/brain/awae140. Online ahead of print. Brain. 2024. PMID: 38703371
ALS/FTD-associated mutation in cyclin F inhibits ER-Golgi trafficking, inducing ER stress, ERAD and Golgi fragmentation.
Ragagnin AMG, Sundaramoorthy V, Farzana F, Gautam S, Saravanabavan S, Takalloo Z, Mehta P, Do-Ha D, Parakh S, Shadfar S, Hunter J, Vidal M, Jagaraj CJ, Brocardo M, Konopka A, Yang S, Rayner SL, Williams KL, Blair IP, Chung RS, Lee A, Ooi L, Atkin JD. Ragagnin AMG, et al. Among authors: williams kl. Sci Rep. 2023 Nov 22;13(1):20467. doi: 10.1038/s41598-023-46802-9. Sci Rep. 2023. PMID: 37993492 Free PMC article.
Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry.
Henden L, Fearnley LG, Southwood D, Smith A, Rowe DB, Kiernan MC, Pamphlett R, Bahlo M, Blair IP, Williams KL. Henden L, et al. Among authors: williams kl. Amyotroph Lateral Scler Frontotemporal Degener. 2024 May 10:1-4. doi: 10.1080/21678421.2024.2348636. Online ahead of print. Amyotroph Lateral Scler Frontotemporal Degener. 2024. PMID: 38726482
533 results