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ID 48557
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Abstract
Charcot-Marie-Tooth disease (CMT) is an inherited neuronal disorder, and is induced by mutations of various genes associated with intracellular membrane traffic and cytoskeleton. A large GTPase, dynamin, which is known as a fission protein for endocytic vesicles, was identified as a gene responsible for dominant-intermediate CMT type 2B (DI-CMT2B). Of these mutants, the PH domain, which is required for interaction with phosphoinositides, was mutated in several families. Interestingly, the expression of a deletion mutant, 551Δ3, did not impair endocytosis, but induced abnormal accumulation of microtubules. Recent evidence has shown that dynamin 2 regulates the dynamic instability of microtubules, and 551Δ3 lacks this function. We propose a model for the regulation of the dynamic instability of microtubules by dynamin 2 and discuss the relationship between dynamin 2 and CMT.
Keywords
neuropathy
Charcot-Marie-Tooth disease
membrane traffic
dynamin
microtubules
Amo Type
Review
Published Date
2012-06
Publication Title
Acta Medica Okayama
Volume
volume66
Issue
issue3
Publisher
Okayama University Medical School
Start Page
183
End Page
190
ISSN
0386-300X
NCID
AA00508441
Content Type
Journal Article
language
英語
Copyright Holders
CopyrightⒸ 2012 by Okayama University Medical School
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publisher
Refereed
True
PubMed ID
Web of Sience KeyUT