Article
Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish.
Human molecular genetics - 15 Dec 2019
Zhao Mo, Smith Lindsay, Volpatti Jonathan, Fabian Lacramioara, Dowling James J
Abstract excerpt
Dynamin 2 (DNM2) encodes a ubiquitously expressed large GTPase with membrane fission capabilities that participates in the endocytosis of clathrin-coated vesicles. Heterozygous mutations in DNM2 are associated with two distinct neuromuscular disorders, Charcot-Marie-Tooth disease (CMT) and autosomal dominant centronuclear myopathy (CNM). Despite extensive investigations in cell culture, the role of dynamin 2 in...
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