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

The type 1 ryanodine receptor (RyR1) is an intracellular calcium (Ca(2+)) release channel on the sarcoplasmic/endoplasmic reticulum that is required for skeletal muscle contraction. RyR1 channel activity is modulated by ligands, including the activators Ca(2+) and ATP. Patients with inherited mutati...

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Detalles Bibliográficos
Autores principales:	Yuan, Qi, Dridi, Haikel, Clarke, Oliver B., Reiken, Steven, Melville, Zephan, Wronska, Anetta, Kushnir, Alexander, Zalk, Ran, Sittenfeld, Leah, Marks, Andrew R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8609856/ https://www.ncbi.nlm.nih.gov/pubmed/34809703 http://dx.doi.org/10.1186/s40478-021-01287-3

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