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Article

Defective membrane remodeling in neuromuscular diseases: insights from animal models.

PLoS genetics - 1 Jan 2012

Cowling Belinda S, Toussaint Anne, Muller Jean, Laporte Jocelyn

Abstract excerpt

Proteins involved in membrane remodeling play an essential role in a plethora of cell functions including endocytosis and intracellular transport. Defects in several of them lead to human diseases. Myotubularins, amphiphysins, and dynamins are all proteins implicated in membrane trafficking and/or remodeling. Mutations in myotubularin, amphiphysin 2 (BIN1), and dynamin 2 lead to different forms of centronuclear...

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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: 22496665
DOI: 10.1371/journal.pgen.1002595
PMCID: PMC3320571

Genes

BIN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Defective membrane remodeling in neuromuscular diseases: insights from animal models.PMID 22496665Read ↗

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