Journal article
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies
Abstract
RYR1 encodes the type 1 ryanodine receptor, an intracellular calcium release channel (RyR1) on the skeletal muscle sarcoplasmic reticulum (SR). Pathogenic RYR1 variations can destabilize RyR1 leading to calcium leak causing oxidative overload and myopathy. However, the effect of RyR1 leak has not been established in individuals with RYR1-related myopathies (RYR1-RM), a broad spectrum of rare neuromuscular disorders. We sought to determine …
Authors
Kushnir A; Todd JJ; Witherspoon JW; Yuan Q; Reiken S; Lin H; Munce RH; Wajsberg B; Melville Z; Clarke OB
Journal
Acta Neuropathologica, Vol. 139, No. 6, pp. 1089–1104
Publisher
Springer Nature
Publication Date
June 2020
DOI
10.1007/s00401-020-02150-w
ISSN
0001-6322