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Article

Mutations in desmin's carboxy-terminal "tail" domain severely modify filament and network mechanics.

Journal of molecular biology - 16 Apr 2010

Bär Harald, Schopferer Michael, Sharma Sarika, Hochstein Bernhard, Mücke Norbert, Herrmann Harald, Willenbacher Norbert

Abstract excerpt

Inherited mutations in the gene coding for the intermediate filament protein desmin have been demonstrated to cause severe skeletal and cardiac myopathies. Unexpectedly, some of the mutated desmins, in particular those carrying single amino acid alterations in the non-alpha-helical carboxy-termin...

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Source

Identifiers

PMID: 20171226
DOI: 10.1016/j.jmb.2010.02.024

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20171226-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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