Reduced threshold for store overload-induced Ca(2+) release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease

Mutations in the skeletal muscle ryanodine receptor (RyR1) cause malignant hyperthermia (MH) and central core disease (CCD), whereas mutations in the cardiac ryanodine receptor (RyR2) lead to catecholaminergic polymorphic ventricular tachycardia (CPVT). Most disease-associated RyR1 and RyR2 mutation...

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Detalhes bibliográficos
Publicado no:Biochem J
Main Authors: Chen, Wenqian, Koop, Andrea, Liu, Yingjie, Guo, Wenting, Wei, Jinhong, Wang, Ruiwu, MacLennan, David H., Dirksen, Robert T., Chen, Sui Rong Wayne
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5803747/
https://ncbi.nlm.nih.gov/pubmed/28687594
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BCJ20170282
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