The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic <i>DES</i> Mutations Affecting Filament Assembly

Desmin is the major intermediate filament protein of all three muscle cell types, and connects different cell organelles and multi-protein complexes such as the cardiac desmosomes. Several pathogenic mutations in the <i>DES</i> gene cause different skeletal and cardiac myopathies. Howeve...

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Bibliographic Details
Main Authors: Andreas Brodehl, Stephanie Holler, Jan Gummert, Hendrik Milting
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Cells
Subjects:
Online Access:https://www.mdpi.com/2073-4409/11/23/3906