RyR1-related myopathy mutations in ATP and calcium binding sites impair channel regulation

RyR1-related myopathy mutations in ATP and calcium binding sites impair channel regulation

Abstract The type 1 ryanodine receptor (RyR1) is an intracellular calcium (Ca2+) release channel on the sarcoplasmic/endoplasmic reticulum that is required for skeletal muscle contraction. RyR1 channel activity is modulated by ligands, including the activators Ca2+ and ATP. Patients with inherited m...

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Autores principales: Qi Yuan, Haikel Dridi, Oliver B. Clarke, Steven Reiken, Zephan Melville, Anetta Wronska, Alexander Kushnir, Ran Zalk, Leah Sittenfeld, Andrew R. Marks
Formato: article
Lenguaje:EN
Publicado: BMC 2021
Materias:
Neurology. Diseases of the nervous system
RC346-429
Acceso en línea:https://doaj.org/article/19800ceb1bb3470a8e10bc36391ea39b
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