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Dynamin 2 in Charcot-Marie-Tooth disease.

Abstract
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.
AuthorsKenji Tanabe, Kohji Takei
JournalActa medica Okayama (Acta Med Okayama) Vol. 66 Issue 3 Pg. 183-90 ( 2012) ISSN: 0386-300X [Print] Japan
PMID22729098 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
Chemical References
  • Dynamin II
Topics
  • Charcot-Marie-Tooth Disease (etiology)
  • Cytoskeleton (physiology)
  • Dynamin II (physiology)
  • Endocytosis
  • Humans
  • Microtubules (physiology)

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