DENND3-p.R534S disrupts dyadic microdomain architecture to drive potentially pro-arrhythmic calcium and electrophysiologic instability.

doi:10.1093/europace/euag193

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Article

DENND3-p.R534S disrupts dyadic microdomain architecture to drive potentially pro-arrhythmic calcium and electrophysiologic instability.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 2 Sept 2026

Gao Shan, Kim Changsung John, Ye Dan, Tester David J, Giudicessi John R, Ackerman Michael J

Abstract excerpt

AIMS: Inherited ventricular arrhythmias (VAs) frequently occur in the absence of pathogenic variants in canonical ion channel genes, suggesting alternative mechanisms of electrical instability. DENND3 is a guanine nucleotide exchange factor that regulates Rab GTPase-mediated trafficking, but its role in cardiac excitation-contraction coupling and membrane microdomain organization remains undefined. METHODS AND...

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Topics

Myocytes, Cardiac
Humans
rab GTP-Binding Proteins
Induced Pluripotent Stem Cells

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

rab11 GTP-Binding Proteins

Guanine Nucleotide Exchange Factors

Calcium Signaling

Excitation Contraction Coupling

Calcium

Membrane Microdomains

Action Potentials

Arrhythmias, Cardiac

Genetic Predisposition to Disease

Source

Open in PubMed Open full text

Identifiers

PMID: 42639838
DOI: 10.1093/europace/euag193
PMCID: PMC13554801

Genes

DENND3
BIN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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