Desmoplakin Mutations in Cardiac Fibroblasts Cause TGFβ1-Mediated Pathological Fibrogenesis in Desmoplakin Cardiomyopathy Via Beclin-1 Regulation.

doi:10.1161/CIRCRESAHA.124.325512

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Article

Desmoplakin Mutations in Cardiac Fibroblasts Cause TGFβ1-Mediated Pathological Fibrogenesis in Desmoplakin Cardiomyopathy Via Beclin-1 Regulation.

Circulation research - 11 Sept 2026

Wei Chuanyu, Shou Weinian, Chan Shing-Fai, Saguner Ardan M, Brunckhorst Corinna, Duru Firat, Marine Joseph E, James Cynthia A, Calkins Hugh, Judge Daniel P, Chen Huei-Sheng Vincent

Abstract excerpt

BACKGROUND: Pathological fibrosis is a major finding in cardiovascular diseases and can result in arrhythmia and heart failure. Desmosome gene mutations can lead to arrhythmogenic cardiomyopathy. Among arrhythmogenic cardiomyopathies, pathogenic DSP (desmoplakin) variants cause a distinctive cardiomyopathy with excessive cardiac fibrosis that could precede ventricular dysfunction. DSP variants are also linked to...

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Topics

Animals
Transforming Growth Factor beta1
Humans
Fibrosis
Fibroblasts

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

Beclin-1

Desmoplakins

Mutation

Mice

Cardiomyopathies

Cells, Cultured

Caveolin 1

Mesenchymal Stem Cells

Autophagy

Mice, Inbred C57BL

Myocardium

Source

Open in PubMed Open full text

Identifiers

PMID: 42615127
DOI: 10.1161/CIRCRESAHA.124.325512
PMCID: PMC13574352

Genes

DSP
CAV1
VIM
BECN1
COL1A1
COL3A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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Desmoplakin Mutations in Cardiac Fibroblasts Cause TGFβ1-Mediated Pathological Fibrogenesis in Desmoplakin Cardiomyopathy Via Beclin-1 Regulation.PMID 42615127Read ↗

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