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Article

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.

Human mutation - 1 Oct 2009

Bitoun Marc, Durieux Anne-Cécile, Prudhon Bernard, Bevilacqua Jorge A, Herledan Adrien, Sakanyan Vehary, Urtizberea Andoni, Cartier Luis, Romero Norma B, Guicheney Pascale

Abstract excerpt

Dynamin 2 (DNM2) is a large GTPase involved in the release of nascent vesicles during endocytosis and intracellular membrane trafficking. Distinct DNM2 mutations, affecting the middle domain (MD) and the Pleckstrin homology domain (PH), have been identified in autosomal dominant centronuclear myo...

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Source

Identifiers

PMID: 19623537
DOI: 10.1002/humu.21086

Genes

DNM2
EGF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19623537-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.PMID 19623537Read ↗

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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.Semantic proximity Read ↗

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