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 cardiovascular medicine Title + abstract only

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BackgroundThe 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 variants of unknown significance. Here, we functionally characterized 21 different DES-variants of un...

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

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