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Article

The TMEM43 S358L mutation affects cardiac, small intestine, and metabolic homeostasis in a knock-in mouse model.

American journal of physiology. Heart and circulatory physiology - 1 Jun 2023

Orgil Buyan-Ochir, Munkhsaikhan Undral, Pierre Joseph F, Li Ning, Xu Fuyi, Alberson Neely R, Johnson Jason N, Wetzel Glenn T, Boukens Bastiaan J D, Lu Lu, Towbin Jeffrey A, Purevjav Enkhsaikhan

Abstract excerpt

The transmembrane protein 43 (TMEM43/LUMA) p.S358L mutation causes arrhythmogenic cardiomyopathy named as ARVC5, a fully penetrant disease with high risk of ventricular arrhythmias, sudden death, and heart failure. Male gender and vigorous exercise independently predicted deleterious outcome. Our systems genetics analysis revealed the importance of Tmem43 for cardiac and metabolic pathways associated with...

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Share to Arrhythmias, Cardiac
Share to Arrhythmogenic Right Ventricular Dysplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37083466
DOI: 10.1152/ajpheart.00712.2022
PMCID: PMC10190833

Provenance

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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