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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 26 Jul 2022

Iyer Kavita A, Hu Yifan, Klose Thomas, Murayama Takashi, Samsó Montserrat

Abstract excerpt

Ryanodine receptors (RyRs) are main regulators of intracellular Ca2+ 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 N-terminal subdomain C of RyR1 and the mechanism of how this mutation orchestrates malfunction is unpredictable for...

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Identifiers

PMID: 35867837
DOI: 10.1073/pnas.2122140119
PMCID: PMC9335238

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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