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Molecular mechanism of the severe MH/CCD mutation Y522S in skeletal ryanodine receptor (RyR1) by cryo-EM

Ryanodine receptors (RyRs) are main regulators of intracellular Ca(2+) release and muscle contraction. The Y522S mutation of RyR1 causes central core disease, a weakening myopathy, and malignant hyperthermia, a sudden and potentially fatal response to anesthetics or heat. Y522 is in the core of the...

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Detalles Bibliográficos
Autores principales:	Iyer, Kavita A., Hu, Yifan, Klose, Thomas, Murayama, Takashi, Samsó, Montserrat
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	National Academy of Sciences 2022
Materias:	Biological Sciences
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9335238/ https://www.ncbi.nlm.nih.gov/pubmed/35867837 http://dx.doi.org/10.1073/pnas.2122140119

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