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Article

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

Acta neuropathologica communications - 22 Nov 2021

Yuan Qi, Dridi Haikel, Clarke Oliver B, Reiken Steven, Melville Zephan, Wronska Anetta, Kushnir Alexander, Zalk Ran, Sittenfeld Leah, Marks Andrew R

Abstract excerpt

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 mutations in RyR1 may exhibit muscle weakness as part of a heterogeneous, complex disorder known as RYR1-related myopathy...

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Identifiers

PMID: 34809703
DOI: 10.1186/s40478-021-01287-3
PMCID: PMC8609856

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