start-ver=1.4 cd-journal=joma no-vol=66 cd-vols= no-issue=3 article-no= start-page=183 end-page=190 dt-received= dt-revised= dt-accepted= dt-pub-year=2012 dt-pub=201206 dt-online= en-article= kn-article= en-subject= kn-subject= en-title= kn-title=Dynamin 2 in Charcot-Marie-Tooth Disease en-subtitle= kn-subtitle= en-abstract= kn-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. en-copyright= kn-copyright= en-aut-name=TanabeKenji en-aut-sei=Tanabe en-aut-mei=Kenji kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=1 ORCID= en-aut-name=TakeiKohji en-aut-sei=Takei en-aut-mei=Kohji kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=2 ORCID= affil-num=1 en-affil= kn-affil=Department of Neuroscience, Okayama University Graduate School of Medicine affil-num=2 en-affil= kn-affil=Department of Neuroscience, Okayama University Graduate School of Medicine en-keyword=neuropathy kn-keyword=neuropathy en-keyword=Charcot-Marie-Tooth disease kn-keyword=Charcot-Marie-Tooth disease en-keyword=membrane traffic kn-keyword=membrane traffic en-keyword=dynamin kn-keyword=dynamin en-keyword=microtubules kn-keyword=microtubules END start-ver=1.4 cd-journal=joma no-vol=122 cd-vols= no-issue=2 article-no= start-page=113 end-page=117 dt-received= dt-revised= dt-accepted= dt-pub-year=2010 dt-pub=20100802 dt-online= en-article= kn-article= en-subject= kn-subject= en-title=Dynamic instability of microtubules regulated by Dynamin2 and Charcot-Marie-Tooth disease kn-title=ダイナミン2による微小管の動態制御とCharcot-Marie-Tooth病 en-subtitle= kn-subtitle= en-abstract= kn-abstract= en-copyright= kn-copyright= en-aut-name=TanabeKenji en-aut-sei=Tanabe en-aut-mei=Kenji kn-aut-name=田邊賢司 kn-aut-sei=田邊 kn-aut-mei=賢司 aut-affil-num=1 ORCID= en-aut-name=TakeiKohji en-aut-sei=Takei en-aut-mei=Kohji kn-aut-name=竹居孝二 kn-aut-sei=竹居 kn-aut-mei=孝二 aut-affil-num=2 ORCID= affil-num=1 en-affil= kn-affil=岡山大学大学院医歯薬学総合研究科 生化学 affil-num=2 en-affil= kn-affil=岡山大学大学院医歯薬学総合研究科 生化学 en-keyword=神経疾患 kn-keyword=神経疾患 en-keyword=Charcot-Marie-Tooth病 kn-keyword=Charcot-Marie-Tooth病 en-keyword=細胞内輸送 kn-keyword=細胞内輸送 en-keyword=微小管 kn-keyword=微小管 en-keyword=ダイナミン kn-keyword=ダイナミン END