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Article

Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.

The Journal of biological chemistry - 4 May 2012

Brodehl Andreas, Hedde Per Niklas, Dieding Mareike, Fatima Azra, Walhorn Volker, Gayda Susan, Šarić Tomo, Klauke Bärbel, Gummert Jan, Anselmetti Dario, Heilemann Mike, Nienhaus Gerd Ulrich, Milting Hendrik

Abstract excerpt

Mutations in the DES gene coding for the intermediate filament protein desmin may cause skeletal and cardiac myopathies, which are frequently characterized by cytoplasmic aggregates of desmin and associated proteins at the cellular level. By atomic force microscopy, we demonstrated filament forma...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22403400
DOI: 10.1074/jbc.M111.313841
PMCID: PMC3346104

Genes

DES

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22403400-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.PMID 22403400Read ↗

Developmental Alterations in Heart Biomechanics and Skeletal Muscle Function in Desmin Mutants Suggest an Early Pathological Root for Desminopathies.Semantic proximity Read ↗

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

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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 AssemblySemantic proximity Read ↗

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

The <i>DES</i> -p.A120P mutation associated with biventricular arrhythmogenic cardiomyopathy has a dominant-negative effect on desmin filament assemblySemantic proximity Read ↗

Desmin Mutations Disrupt Filament Elongation and Drive Polymorphic AggregationSemantic proximity Read ↗

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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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