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Article

TMEM43-S358L mutation enhances NF-κB-TGFβ signal cascade in arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Protein & cell - 1 Feb 2019

Zheng Guoxing, Jiang Changying, Li Yulin, Yang Dandan, Ma Youcai, Zhang Bing, Li Xuan, Zhang Pei, Hu Xiaoyu, Zhao Xueqiang, Du Jie, Lin Xin

Abstract excerpt

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a genetic cardiac muscle disease that accounts for approximately 30% sudden cardiac death in young adults. The Ser358Leu mutation of transmembrane protein 43 (TMEM43) was commonly identified in the patients of highly lethal and fully penetrant ARVD subtype, ARVD5. Here, we generated TMEM43 S358L mouse to explore the underlying mechanism. This...

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Identifiers

PMID: 29980933
DOI: 10.1007/s13238-018-0563-2
PMCID: PMC6340891

Genes

TMEM43

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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