Article

Characterisation of the mechanism by which a nonsense variant in <i>RYR2</i> results in ventricular arrhythmia

2021-03-24

Abstract excerpt

<h4>Background</h4> Heterozygous variants in the cardiac ryanodine receptor gene ( RYR2 ) cause catecholaminergic polymorphic ventricular tachycardia (CPVT). Most pathogenic RYR2 variants are missense variants which result in a gain of function, causing ryanodine receptors to be increasingly sensitive to activation by calcium, have an increased open probability and an increased propensity to develop calcium waves....

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 12ebf82e-0d92-5d05-8bff-ba1a757b9a77
DOI: 10.1101/2021.03.16.21252576

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Characterisation of the mechanism by which a nonsense variant in <i>RYR2</i> results in ventricular arrhythmiaDOI 10.1101/2021.03.16.21252576Read

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

The Role of RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.Semantic proximity Read

RYR2-ryanodinopathies: from calcium overload to calcium deficiency.Semantic proximity Read

Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden deathSemantic proximity Read

Role of ryanodine receptor mutations in cardiac pathology: more questions than answers?Semantic proximity Read

Arrhythmogenic mechanisms in ryanodine receptor channelopathies.Semantic proximity Read

Pathogenic mechanism of a catecholaminergic polymorphic ventricular tachycardia causing-mutation in cardiac calcium release channel RyR2.Semantic proximity Read

Calcium signaling consequences of RyR2 mutations associated with CPVT1 introduced via CRISPR/Cas9 gene editing in human-induced pluripotent stem cell-derived cardiomyocytes: Comparison of RyR2-R420Q, F2483I, and Q4201R.Semantic proximity Read

Ryanodine receptors and ventricular arrhythmias: emerging trends in mutations, mechanisms and therapies.Semantic proximity Read

Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome.Semantic proximity Read

Molecular characterization of the calcium release channel deficiency syndrome.Semantic proximity Read

[RyR2 mutation-linked arrhythmogenic diseases and its therapeutic strategies].Semantic proximity Read