Desmin-p.L112Q Disturbs Filament Formation and Is a Likely-Pathogenic Variant Associated with Dilated Cardiomyopathy
<i>DES</i> encodes the muscle-specific intermediate filament protein desmin, which is highly relevant to the structural integrity of cardiomyocytes. Mutations in this gene cause different cardiomyopathies including dilated cardiomyopathy. Here, we functionally validate <i>DES</i>-p.L112Q using SW-13...
Zapisane w:
| Główni autorzy: | , , , , , , , |
|---|---|
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
MDPI AG
2025-12-01
|
| Seria: | Journal of Cardiovascular Development and Disease |
| Hasła przedmiotowe: | |
| Dostęp online: | https://www.mdpi.com/2308-3425/13/1/3 |
| Etykiety: |
Nie ma etykietki, Dołącz pierwszą etykiete!
|