Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden death

Mutations in cardiac ryanodine receptor (RyR2) are linked to catecholaminergic polymorphic ventricular tachycardia (CPVT). Most CPVT RyR2 mutations characterized are gain-of-function (GOF), indicating enhanced RyR2 function as a major cause of CPVT. Loss-of-function (LOF) RyR2 mutations have also be...

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Detalhes bibliográficos
Publicado no:Biosci Rep
Main Authors: Zhong, Xiaowei, Guo, Wenting, Wei, Jinhong, Tang, Yijun, Liu, Yingjie, Zhang, Joe Z., Tan, Vern Hsen, Zhang, Lin, Wang, Ruiwu, Jones, Peter P., Napolitano, Carlo, Priori, Silvia G., Chen, S.R. Wayne
Formato: Artigo
Idioma:Inglês
Publicado em: Portland Press Ltd. 2021
Assuntos:
Cardiovascular System & Vascular Biology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8062958/
https://ncbi.nlm.nih.gov/pubmed/33825858
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20210209
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