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Article

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.

The Journal of clinical investigation - 1 Jan 2011

Hnia Karim, Tronchère Helene, Tomczak Kinga K, Amoasii Leonela, Schultz Patrick, Beggs Alan H, Payrastre Bernard, Mandel Jean Louis, Laporte Jocelyn

Abstract excerpt

Muscle contraction relies on a highly organized intracellular network of membrane organelles and cytoskeleton proteins. Among the latter are the intermediate filaments (IFs), a large family of proteins mutated in more than 30 human diseases. For example, mutations in the DES gene, which encodes t...

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Topics

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Share to Desmin
Share to In Vitro Techniques
Share to Intermediate Filaments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microscopy, Electron, Transmission

Share to Mitochondria, Muscle

Share to Myopathies, Structural, Congenital

Share to Protein Interaction Domains and Motifs

Share to Protein Tyrosine Phosphatases, Non-Receptor

Source

Open in PubMed Open full text

Identifiers

PMID: 21135508
DOI: 10.1172/JCI44021
PMCID: PMC3007152

Genes

MTM1
DES

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21135508-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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