論文

査読有り
2012年

Dynamin 2 in charcot-marie-tooth disease.

Acta medica Okayama
  • Tanabe Kenji
  • ,
  • Takei Kohji

66
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
DOI
https://doi.org/10.18926/AMO/48557
CiNii Articles
http://ci.nii.ac.jp/naid/120004247089
CiNii Books
http://ci.nii.ac.jp/ncid/AA00508441
URL
http://orcid.org/0000-0003-2645-9429
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:"";}}

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