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Article

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

Physiological reports - 1 Apr 2022

Hopton Claire, Tijsen Anke J, Maizels Leonid, Arbel Gil, Gepstein Amira, Bates Nicola, Brown Benjamin, Huber Irit, Kimber Susan J, Newman William G, Venetucci Luigi, Gepstein Lior

Abstract excerpt

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 calcium that results in an increased propensity to develop calcium waves and delayed afterdepolarizations. We have recently...

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Identifiers

PMID: 35439358
DOI: 10.14814/phy2.15265
PMCID: PMC9017975

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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