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Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALS.
Eitan C, Siany A, Barkan E, Olender T, van Eijk KR, Moisse M, Farhan SMK, Danino YM, Yanowski E, Marmor-Kollet H, Rivkin N, Yacovzada NS, Hung ST, Cooper-Knock J, Yu CH, Louis C, Masters SL, Kenna KP, van der Spek RAA, Sproviero W, Al Khleifat A, Iacoangeli A, Shatunov A, Jones AR, Elbaz-Alon Y, Cohen Y, Chapnik E, Rothschild D, Weissbrod O, Beck G, Ainbinder E, Ben-Dor S, Werneburg S, Schafer DP, Brown RH Jr, Shaw PJ, Van Damme P, van den Berg LH, Phatnani H, Segal E, Ichida JK, Al-Chalabi A, Veldink JH; Project MinE ALS Sequencing Consortium; NYGC ALS Consortium; Hornstein E. Eitan C, et al. Nat Neurosci. 2022 Apr;25(4):433-445. doi: 10.1038/s41593-022-01040-6. Epub 2022 Mar 31. Nat Neurosci. 2022. PMID: 35361972 Free PMC article.
Deep learning modeling of rare noncoding genetic variants in human motor neurons defines CCDC146 as a therapeutic target for ALS.
Zhang S, Moll T, Rubin-Sigler J, Tu S, Li S, Yuan E, Liu M, Butt A, Harvey C, Gornall S, Alhalthli E, Shaw A, Souza CDS, Ferraiuolo L, Hornstein E, Shelkovnikova T, van Dijk CH, Timpanaro IS, Kenna KP, Zeng J, Tsao PS, Shaw PJ, Ichida JK, Cooper-Knock J, Snyder MP. Zhang S, et al. Among authors: cooper knock j. medRxiv [Preprint]. 2024 Apr 1:2024.03.30.24305115. doi: 10.1101/2024.03.30.24305115. medRxiv. 2024. PMID: 38633814 Free PMC article. Preprint.
Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis.
Harvey C, Weinreich M, Lee JAK, Shaw AC, Ferraiuolo L, Mortiboys H, Zhang S, Hop PJ, Zwamborn RAJ, van Eijk K, Julian TH, Moll T, Iacoangeli A, Al Khleifat A, Quinn JP, Pfaff AL, Kõks S, Poulton J, Battle SL, Arking DE, Snyder MP; Project MinE ALS Sequencing Consortium; Veldink JH, Kenna KP, Shaw PJ, Cooper-Knock J. Harvey C, et al. Among authors: cooper knock j. Heliyon. 2024 Jan 24;10(3):e24975. doi: 10.1016/j.heliyon.2024.e24975. eCollection 2024 Feb 15. Heliyon. 2024. PMID: 38317984 Free PMC article.
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.
Kaivola K, Chia R, Ding J, Rasheed M, Fujita M, Menon V, Walton RL, Collins RL, Billingsley K, Brand H, Talkowski M, Zhao X, Dewan R, Stark A, Ray A, Solaiman S, Alvarez Jerez P, Malik L, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Masellis M, Keith J, Black SE, Ferrucci L, Resnick SM, Tanaka T; American Genome Center; International LBD Genomics Consortium; International ALS/FTD Consortium; PROSPECT Consortium; Topol E, Torkamani A, Tienari P, Foroud TM, Ghetti B, Landers JE, Ryten M, Morris HR, Hardy JA, Mazzini L, D'Alfonso S, Moglia C, Calvo A, Serrano GE, Beach TG, Ferman T, Graff-Radford NR, Boeve BF, Wszolek ZK, Dickson DW, Chiò A, Bennett DA, De Jager PL, Ross OA, Dalgard CL, Gibbs JR, Traynor BJ, Scholz SW. Kaivola K, et al. Cell Genom. 2023 May 4;3(6):100316. doi: 10.1016/j.xgen.2023.100316. eCollection 2023 Jun 14. Cell Genom. 2023. PMID: 37388914 Free PMC article.
A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations.
Allen SP, Al Sultan A, Kabucho Kibirige E, Tonkiss E, Hamer KJ, Castelli LM, Lin YH, Roscoe S, Stefanidis N, Mead RJ, Highley JR, Cooper-Knock J, Hautbergue GM, Heath PR, Kirby J, Shaw PJ. Allen SP, et al. Among authors: cooper knock j. Front Aging Neurosci. 2023 May 11;15:1151848. doi: 10.3389/fnagi.2023.1151848. eCollection 2023. Front Aging Neurosci. 2023. PMID: 37251807 Free PMC article.
Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival.
Adey BN, Cooper-Knock J, Al Khleifat A, Fogh I, van Damme P, Corcia P, Couratier P, Hardiman O, McLaughlin R, Gotkine M, Drory V, Silani V, Ticozzi N, Veldink JH, van den Berg LH, de Carvalho M, Pinto S, Mora Pardina JS, Povedano Panades M, Andersen PM, Weber M, Başak NA, Shaw CE, Shaw PJ, Morrison KE, Landers JE, Glass JD, Vourc'h P, Dobson RJB, Breen G, Al-Chalabi A, Jones AR, Iacoangeli A. Adey BN, et al. Among authors: cooper knock j. Front Cell Neurosci. 2023 Mar 2;17:1112405. doi: 10.3389/fncel.2023.1112405. eCollection 2023. Front Cell Neurosci. 2023. PMID: 36937187 Free PMC article.
87 results