JaLCDOI 10.18926/AMO/48557
フルテキストURL 66_3_183.pdf
著者 Tanabe, Kenji| Takei, Kohji|
抄録 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.
キーワード neuropathy Charcot-Marie-Tooth disease membrane traffic dynamin microtubules
Amo Type Review
発行日 2012-06
出版物タイトル Acta Medica Okayama
出版者 Okayama University Medical School
開始ページ 183
終了ページ 190
ISSN 0386-300X
NCID AA00508441
資料タイプ 学術雑誌論文
言語 English
著作権者 CopyrightⒸ 2012 by Okayama University Medical School
論文のバージョン publisher
査読 有り
PubMed ID 22729098
Web of Science KeyUT 000305669700001
著者 田邊 賢司| 竹居 孝二|
発行日 2010-08-02
出版物タイトル 岡山医学会雑誌
資料タイプ 学術雑誌論文