Novel RyR2 Mutation (G3118R) Is Associated With Autosomal Recessive Ventricular Fibrillation and Sudden Death: Clinical, Functional, and Computational Analysis

BACKGROUND: The cardiac ryanodine receptor type 2 (RyR2) is a large homotetramer, located in the sarcoplasmic reticulum (SR), which releases Ca(2+) from the SR during systole. The molecular mechanism underlying Ca(2+) sensing and gating of the RyR2 channel in health and disease is only partially elu...

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Detalles Bibliográficos
Autores principales: Shauer, Ayelet, Shor, Oded, Wei, Jinhong, Elitzur, Yair, Kucherenko, Nataly, Wang, Ruiwu, Chen, S. R. Wayne, Einav, Yulia, Luria, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8174198/
https://www.ncbi.nlm.nih.gov/pubmed/33686871
http://dx.doi.org/10.1161/JAHA.120.017128

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