JaLCDOI 10.18926/AMO/48557
FullText URL 66_3_183.pdf
Author Tanabe, Kenji| Takei, Kohji|
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
File Version publisher
Refereed True
PubMed ID 22729098
Web of Sience KeyUT 000305669700001
Author Tanabe, Kenji| Takei, Kohji|
Published Date 2010-08-02
Publication Title 岡山医学会雑誌
Volume volume122
Issue issue2
Content Type Journal Article