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Intracellular calcium leak as a therapeutic target for RYR1-related myopathies

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 be...

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Bibliographic Details
Published in:Acta Neuropathol
Main Authors: Kushnir, Alexander, Todd, Joshua J., Witherspoon, Jessica W., Yuan, Qi, Reiken, Steven, Lin, Harvey, Munce, Ross H., Wajsberg, Benjamin, Melville, Zephan, Clarke, Oliver B, Wedderburn-Pugh, Kaylee, Wronska, Anetta, Razaqyar, Muslima S., Chrismer, Irene C., Shelton, Monique O., Mankodi, Ami, Grunseich, Christopher, Tarnopolsky, Mark A., Tanji, Kurenai, Hirano, Michio, Riazi, Sheila, Kraeva, Natalia, Voermans, Nicol C, Gruber, Angela, Allen, Carolyn, Meilleur, Katherine G., Marks, Andrew R.
Format: Artigo
Language:Inglês
Published: 2020
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7788518/
https://ncbi.nlm.nih.gov/pubmed/32236737
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-020-02150-w
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