2012年
Dynamin 2 in charcot-marie-tooth disease.
Acta medica Okayama
- ,
- 巻
- 66
- 号
- 3
- 開始ページ
- 183
- 終了ページ
- 190
- 記述言語
- 英語
- 掲載種別
- DOI
- 10.18926/AMO/48557
- 出版者・発行元
- Okayama University Medical School
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 responsiblefor 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 accumulationof 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.
- リンク情報
- ID情報
-
- DOI : 10.18926/AMO/48557
- ISSN : 0386-300X
- CiNii Articles ID : 120004247089
- CiNii Books ID : AA00508441
- ORCIDのPut Code : 38917397
- ORCIDで取得されたその他外部ID : a:1:{i:0;a:1:{s:0:"";s:0:"";}}