Characterization of the mechanism by which a nonsense variant in RYR2 leads to disordered calcium handling

Characterization of the mechanism by which a nonsense variant in RYR2 leads to disordered calcium handling

Abstract Heterozygous missense variants of the cardiac ryanodine receptor gene (RYR2) cause catecholaminergic polymorphic ventricular tachycardia (CPVT). These missense variants of RYR2 result in a gain of function of the ryanodine receptors, characterized by increased sensitivity to activation by c...

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Bibliographic Details
Main Authors: Claire Hopton, Anke J. Tijsen, Leonid Maizels, Gil Arbel, Amira Gepstein, Nicola Bates, Benjamin Brown, Irit Huber, Susan J. Kimber, William G. Newman, Luigi Venetucci, Lior Gepstein
Format: Article
Language:English
Published: Wiley 2022-04-01
Series:Physiological Reports
Subjects:
CPVT
human induced pluripotent stem cells
RYR2
ventricular arrhythmia
Online Access:https://doi.org/10.14814/phy2.15265

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