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A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke.
Yamazawa T, Kobayashi T, Kurebayashi N, Konishi M, Noguchi S, Inoue T, Inoue YU, Nishino I, Mori S, Iinuma H, Manaka N, Kagechika H, Uryash A, Adams J, Lopez JR, Liu X, Diggle C, Allen PD, Kakizawa S, Ikeda K, Lin B, Ikemi Y, Nunomura K, Nakagawa S, Sakurai T, Murayama T. Yamazawa T, et al. Among authors: diggle c. Nat Commun. 2021 Jul 13;12(1):4293. doi: 10.1038/s41467-021-24644-1. Nat Commun. 2021. PMID: 34257294 Free PMC article.
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, van Riesen A, Morgan JE, Markham G, Ellis I, Manzur AY, Markham AF, Shires M, Helliwell T, Scoto M, Hübner C, Bonthron DT, Taylor GR, Sheridan E, Muntoni F, Carr IM, Schuelke M, Johnson CA. Logan CV, et al. Among authors: diggle cp. Nat Genet. 2011 Nov 20;43(12):1189-92. doi: 10.1038/ng.995. Nat Genet. 2011. PMID: 22101682
45 results