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Cardiomyopathy-Associated Mutations in a Hotspot Region at the C-terminal Part of Desmin Coil-2 Domain Impair the Intermediate Filament Assembly

2025-12-17

Abstract excerpt

<h4>Background</h4> The DES gene encodes the intermediate filament protein desmin, which connects different multi-protein complexes like the cardiac desmosomes and is highly important for the structural integrity of cardiomyocytes. Pathogenic DES -mutations cause filament assembly defects leading to cardiomyopathies. However, most DES -variants listed in genetic disease databases are currently classified as va...

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Literature Corpus work
8becb4e6-b5d0-54ba-9970-728166945dd8
DOI
10.64898/2025.12.15.25342325
Open publication

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Cardiomyopathy-Associated Mutations in a Hotspot Region at the C-terminal Part of Desmin Coil-2 Domain Impair the Intermediate Filament AssemblyDOI 10.64898/2025.12.15.25342325
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