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Article

The V2475F CPVT1 mutation yields distinct RyR2 channel populations that differ in their responses to cytosolic Ca2+ and Mg2.

The Journal of physiology - 1 Dec 2021

Wilson Abigail D, Hu Jianshu, Sigalas Charalampos, Venturi Elisa, Valdivia Héctor H, Valdivia Carmen R, Lei Ming, Musgaard Maria, Sitsapesan Rebecca

Abstract excerpt

Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) is a lethal genetic disease causing arrhythmias and sudden cardiac death in children and young adults and is linked to mutations in the cardiac ryanodine receptor (RyR2). The effects of CPVT1 mutations on RyR2 ion-channel function are often investigated using purified recombinant RyR2 channels homozygous for the mutation. However, CPVT1 patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34676560
DOI: 10.1113/JP281707
PMCID: PMC8996374

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