Article

Desmoplakin Haploinsu/iciency Underlies Cell-Cell Adhesion Failure in DSP Cardiomyopathy and is Rescued by Transcriptional Activation

2025-06-03

Abstract excerpt

<h4>Background</h4> Truncating variants in desmoplakin ( DSP tv), are a leading cause of arrhythmogenic cardiomyopathy (ACM), often presenting with early fibrosis and arrhythmias disproportionate to systolic dysfunction. DSP is critical for cardiac mechanical integrity, linking desmosomes to the cytoskeleton to withstand contractile forces. While loss-of-function is implicated, direct evidence, both for DSP hapl...

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Literature Corpus work: b0a469bc-42df-5dd4-bec6-d95de51c95db
DOI: 10.1101/2025.06.01.657304

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