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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.
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.
635 results