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Article

Structural mechanism of two gain-of-function cardiac and skeletal RyR mutations at an equivalent site by cryo-EM.

Science advances - 1 Jul 2020

Iyer Kavita A, Hu Yifan, Nayak Ashok R, Kurebayashi Nagomi, Murayama Takashi, Samsó Montserrat

Abstract excerpt

Mutations in ryanodine receptors (RyRs), intracellular Ca2+ channels, are associated with deadly disorders. Despite abundant functional studies, the molecular mechanism of RyR malfunction remains elusive. We studied two single-point mutations at an equivalent site in the skeletal (RyR1 R164C) and cardiac (RyR2 R176Q) isoforms using ryanodine binding, Ca2+ imaging, and cryo-electron microscopy (cryo-EM) of the...

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Identifiers

PMID: 32832689
DOI: 10.1126/sciadv.abb2964
PMCID: PMC7439390

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