Dynamin 2 in Charcot-Marie-Tooth Disease

• 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.

収録刊行物

• Acta Medica Okayama

  Acta Medica Okayama 66 (3), 183-190, 2012-06

  Okayama University Medical School

キーワード

• neuropathy
• Charcot-Marie-Tooth disease
• membrane traffic
• dynamin
• microtubules

詳細情報

• CRID: 1390853649749641344
• NII論文ID: 120004247089
• NII書誌ID: AA00508441
• ISSN: 0386300X
• DOI: 10.18926/amo/48557
• PubMed: 22729098
• Web Site: https://ousar.lib.okayama-u.ac.jp/48557
• Web Site: https://search.jamas.or.jp/link/ui/2013156712
• 本文言語コード: en
• データソース種別:
  • JaLC
  • IRDB
  • PubMed
  • CiNii Articles