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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
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 |