The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES 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 DES gene cause different skeletal and cardiac myopathies. However, the significance...

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Detalles Bibliográficos
Autores principales: Brodehl, Andreas, Holler, Stephanie, Gummert, Jan, Milting, Hendrik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9738904/
https://www.ncbi.nlm.nih.gov/pubmed/36497166
http://dx.doi.org/10.3390/cells11233906

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9738904/
https://www.ncbi.nlm.nih.gov/pubmed/36497166
http://dx.doi.org/10.3390/cells11233906

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