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Article

Atlas of <i>DES</i> (desmin) variants: Impact of variants located within the head domain on filament assembly

2023-08-12

Abstract excerpt

Desmin is a muscle-specific intermediate filament protein, which plays a significant role in providing structural integrity of cardiomyocytes by connecting different cell organelles and multi-protein complexes. DES mutations cause cardiomyopathies and skeletal myopathies. Most of these pathogenic mutations are localized in the highly conserved rod domain and affect the filament assembly. However, the impact of...

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Identifiers and source

Literature Corpus work
b871ac1c-4c76-5493-896e-1fb7390067f2
DOI
10.1101/2023.08.11.552974
Open publication

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