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Disruption of ER-mitochondria tethering and signalling in C9orf72-associated amyotrophic lateral sclerosis and frontotemporal dementia.
Gomez-Suaga P, Mórotz GM, Markovinovic A, Martín-Guerrero SM, Preza E, Arias N, Mayl K, Aabdien A, Gesheva V, Nishimura A, Annibali A, Lee Y, Mitchell JC, Wray S, Shaw C, Noble W, Miller CCJ. Gomez-Suaga P, et al. Among authors: wray s. Aging Cell. 2022 Feb;21(2):e13549. doi: 10.1111/acel.13549. Epub 2022 Jan 13. Aging Cell. 2022. PMID: 35026048 Free PMC article.
Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels.
Bartolome F, Wu HC, Burchell VS, Preza E, Wray S, Mahoney CJ, Fox NC, Calvo A, Canosa A, Moglia C, Mandrioli J, Chiò A, Orrell RW, Houlden H, Hardy J, Abramov AY, Plun-Favreau H. Bartolome F, et al. Among authors: wray s. Neuron. 2013 Apr 10;78(1):57-64. doi: 10.1016/j.neuron.2013.02.028. Epub 2013 Mar 14. Neuron. 2013. PMID: 23498975 Free PMC article.
Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion.
Fratta P, Polke JM, Newcombe J, Mizielinska S, Lashley T, Poulter M, Beck J, Preza E, Devoy A, Sidle K, Howard R, Malaspina A, Orrell RW, Clarke J, Lu CH, Mok K, Collins T, Shoaii M, Nanji T, Wray S, Adamson G, Pittman A, Renton AE, Traynor BJ, Sweeney MG, Revesz T, Houlden H, Mead S, Isaacs AM, Fisher EM. Fratta P, et al. Among authors: wray s. Neurobiol Aging. 2015 Jan;36(1):546.e1-7. doi: 10.1016/j.neurobiolaging.2014.07.037. Epub 2014 Aug 1. Neurobiol Aging. 2015. PMID: 25179228 Free PMC article.
C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis.
Rohrer JD, Isaacs AM, Mizielinska S, Mead S, Lashley T, Wray S, Sidle K, Fratta P, Orrell RW, Hardy J, Holton J, Revesz T, Rossor MN, Warren JD. Rohrer JD, et al. Among authors: wray s. Lancet Neurol. 2015 Mar;14(3):291-301. doi: 10.1016/S1474-4422(14)70233-9. Epub 2015 Jan 29. Lancet Neurol. 2015. PMID: 25638642 Review.
Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT.
Sposito T, Preza E, Mahoney CJ, Setó-Salvia N, Ryan NS, Morris HR, Arber C, Devine MJ, Houlden H, Warner TT, Bushell TJ, Zagnoni M, Kunath T, Livesey FJ, Fox NC, Rossor MN, Hardy J, Wray S. Sposito T, et al. Among authors: wray s. Hum Mol Genet. 2015 Sep 15;24(18):5260-9. doi: 10.1093/hmg/ddv246. Epub 2015 Jul 1. Hum Mol Genet. 2015. PMID: 26136155 Free PMC article.
The Src/c-Abl pathway is a potential therapeutic target in amyotrophic lateral sclerosis.
Imamura K, Izumi Y, Watanabe A, Tsukita K, Woltjen K, Yamamoto T, Hotta A, Kondo T, Kitaoka S, Ohta A, Tanaka A, Watanabe D, Morita M, Takuma H, Tamaoka A, Kunath T, Wray S, Furuya H, Era T, Makioka K, Okamoto K, Fujisawa T, Nishitoh H, Homma K, Ichijo H, Julien JP, Obata N, Hosokawa M, Akiyama H, Kaneko S, Ayaki T, Ito H, Kaji R, Takahashi R, Yamanaka S, Inoue H. Imamura K, et al. Among authors: wray s. Sci Transl Med. 2017 May 24;9(391):eaaf3962. doi: 10.1126/scitranslmed.aaf3962. Sci Transl Med. 2017. PMID: 28539470 Free article.
634 results