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Article

Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers.

The Journal of biological chemistry - 23 Jul 2010

Wang Lei, Barylko Barbara, Byers Christopher, Ross Justin A, Jameson David M, Albanesi Joseph P

Abstract excerpt

Mutations in the dynamin 2 gene have been identified in patients with autosomal dominant forms of centronuclear myopathy (CNM). Dynamin 2 is a ubiquitously expressed approximately 100-kDa GTPase that assembles around the necks of vesiculating membranes and promotes their constriction and scission. It has also been implicated in regulation of the actin and microtubule cytoskeletons. At present, the cellular...

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Identifiers

PMID: 20529869
DOI: 10.1074/jbc.C110.130013
PMCID: PMC2906265

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers.PMID 20529869Read ↗

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Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.Semantic proximity Read ↗

Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.Semantic proximity Read ↗

Mutations in dynamin 2 cause dominant centronuclear myopathy.Semantic proximity Read ↗

Effect of Pathogenic Mutations on the Formation of High-Order Dynamin 2 Assemblies in Living Cells.Semantic proximity Read ↗

A mutation associated with Charcot-Marie-Tooth disease enhances the formation of stable dynamin 2 complexes in cellsSemantic proximity Read ↗

Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation.Semantic proximity Read ↗

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

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Reducing dynamin 2 (DNM2) rescues DNM2 -related dominant centronuclear myopathySemantic proximity Read ↗

Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy.Semantic proximity Read ↗

Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin.Semantic proximity Read ↗

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