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Article

Cardiomyopathy-Associated Mutations in a Hotspot Region at the C-Terminal Part of Desmin Coil-2 Domain Impair the Intermediate Filament Assembly.

Circulation. Genomic and precision medicine - 1 Aug 2026

Reckmann Jonas, Milting Hendrik, Voß Sabrina, Radukic Marco T, Klag Franziska, Flottmann Franziska, Lütkemeyer Alexander, Groß Joline, Gärtner Anna, Landwehr Sandra, Anselmetti Dario, Hoyer Annika, Müller Kristian M, Gummert Jan, Walhorn Volker, Brodehl Andreas

Abstract excerpt

BACKGROUND: The DES gene encodes the IF (intermediate filament) protein desmin, which connects different multiprotein complexes, such as the cardiac desmosomes, and is highly important for the structural integrity of cardiomyocytes. Pathogenic DES mutations cause filament assembly defects leading to cardiomyopathies. However, most DES variants listed in genetic disease databases are currently classified as...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42381621
DOI: 10.1161/CIRCGEN.125.005653

Genes

DES

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

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Cardiomyopathy-Associated Mutations in a Hotspot Region at the C-Terminal Part of Desmin Coil-2 Domain Impair the Intermediate Filament Assembly.PMID 42381621Read ↗

Cardiomyopathy-Associated Mutations in a Hotspot Region at the C-terminal Part of Desmin Coil-2 Domain Impair the Intermediate Filament AssemblySemantic proximity Read ↗

Atlas of cardiomyopathy associated <i>DES</i> (desmin) mutations: Functional insights into the critical 1B domainSemantic proximity Read ↗

Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly DefectSemantic proximity Read ↗

Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death.Semantic proximity Read ↗

The N-terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting the Filament AssemblySemantic proximity Read ↗

Pathophysiological mechanisms of cardiomyopathies induced by desmin gene variants located in the C-Terminus of segment 2B.Semantic proximity Read ↗

Desmin-p.L112Q Disturbs the Filament Formation and Is a Likely-Pathogenic Variant Associated with Dilated CardiomyopathySemantic proximity Read ↗

Functional Characterization of a Novel Genetic Variant in Desmin (p.Glu353dup) Causing Myofibrillar Myopathy and Generation of Patient-Derived Induced Pluripotent Stem Cells for Disease ModelingSemantic proximity Read ↗

Atlas of <i>DES</i> (desmin) variants: Impact of variants located within the head domain on filament assemblySemantic proximity Read ↗

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Noncompaction cardiomyopathy is caused by a novel in‐frame desmin ( DES ) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defectSemantic proximity Read ↗

The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.Semantic proximity Read ↗

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