Article

The N-terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting the Filament Assembly

2022-08-08

Abstract excerpt

Desmin is the major intermediate filament protein of all three muscle cell types and connects different cell organelles and multi-protein complexes like the cardiac desmosomes. Several pathogenic mutations in the DES gene cause different skeletal and cardiac myopathies. However, the significance of the majority of DES missense variants is currently unknown since functional data are lacking. To determine whether de...

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Literature Corpus work: fce44b57-2c89-5593-93b1-36b3f4ebc793
DOI: 10.20944/preprints202208.0152.v1

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