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The <i>DES</i> -p.A120P mutation associated with biventricular arrhythmogenic cardiomyopathy has a dominant-negative effect on desmin filament assembly

2026-01-14

Abstract excerpt

Desmin is a muscle-specific intermediate filament protein, which connects different cell organelles and is highly relevant for the structural integrity of cardiomyocytes. Mutations in the DES gene, cause different cardiomyopathies including arrhythmogenic cardiomyopathy. In this study, we functionally investigate the novel genetic variant DES -p.A120P using cell transfection experiments including cardiomyocytes...

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Literature Corpus work
99966cb4-9fdc-5f12-8130-735410ef554f
DOI
10.64898/2026.01.14.699412
Open publication

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