RyR1-related myopathy mutations in ATP and calcium binding sites impair channel regulation
Abstract 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 m...
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Auteurs principaux: | Qi Yuan, Haikel Dridi, Oliver B. Clarke, Steven Reiken, Zephan Melville, Anetta Wronska, Alexander Kushnir, Ran Zalk, Leah Sittenfeld, Andrew R. Marks |
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Format: | article |
Langue: | EN |
Publié: |
BMC
2021
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Sujets: | |
Accès en ligne: | https://doaj.org/article/19800ceb1bb3470a8e10bc36391ea39b |
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