Article

Desmin-p.L112Q Disturbs the Filament Formation and Is a Likely-Pathogenic Variant Associated with Dilated Cardiomyopathy

2025-12-02

Abstract excerpt

DES encodes the muscle specific intermediate filament protein desmin and mutations in this gene cause different cardiomyopathies. Here, we functionally validate DES-p.L112Q using SW-13, H9c2 cells and cardiomyocytes derived from induced pluripotent stem cells by confocal microscopy. These experiments reveal an aberrant cytoplasmic aggregation of mutant desmin. In conclusion, these functional analyses support the r...

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Literature Corpus work: 2a081dda-2f0e-5b1f-9d2a-50b272475421
DOI: 10.20944/preprints202512.0090.v1

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