タナベ　ケンジ   Tanabe Kenji   田邊　賢司    所属   研究施設 研究施設    職種   准教授
論文種別	総説
言語種別	英語
査読の有無	査読あり
表題	Dynamin 2 in charcot-marie-tooth disease.
掲載誌名	正式名：Acta medica Okayama
巻・号・頁	66,pp.183-190
著者・共著者	Tanabe K. and Takei K.
担当区分	筆頭著者
発行年月	2012
概要	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.