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...

पूर्ण विवरण

ग्रंथसूची विवरण

मुख्य लेखकों:	Alexander Lütkemeyer, Sabrina Voß, Jonas Reckmann, Joline Groß, Anna Gärtner, Jan Gummert, Hendrik Milting, Andreas Brodehl
स्वरूप:	Artigo
भाषा:	Inglês
प्रकाशित:	MDPI AG 2025-12-01
श्रृंखला:	Journal of Cardiovascular Development and Disease
विषय:	desmin dilated cardiomyopathy desmosomes cardiovascular genetics intermediate filaments mutations
ऑनलाइन पहुंच:	https://www.mdpi.com/2308-3425/13/1/3
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