Article
RyR2 C-terminal truncating variants identified in patients with arrhythmic phenotypes exert a dominant negative effect through formation of wildtype-truncation heteromers.
The Biochemical journal - 13 Sept 2023
Tian Shanshan, Zhong Xiaowei, Wang Hui, Wei Jinhong, Guo Wenting, Wang Ruiwu, Paul Estillore John, Napolitano Carlo, Duff Henry H, Ilhan Erkan, Knight Linda M, Lloyd Michael S, Roberts Jason D, Priori Silvia G, Chen S R Wayne
Abstract excerpt
Gain-of-function missense variants in the cardiac ryanodine receptor (RyR2) are linked to catecholaminergic polymorphic ventricular tachycardia (CPVT), whereas RyR2 loss-of-function missense variants cause Ca2+ release deficiency syndrome (CRDS). Recently, truncating variants in RyR2 have also been associated with ventricular arrhythmias (VAs) and sudden cardiac death. However, there are limited insights into the...
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