Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues

• Published in: Current opinion in cell biology Vol. 81; p. 102174
• Main Authors: Laiman, Jessica, Lin, Shan-Shan, Liu, Ya-Wen
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.04.2023
• Subjects: Cancer; Centronuclear myopathy; Charcot-marie-tooth neuropathy; Developmental epilepsy encephalopathy; Dynamin II - genetics; Dynamin II - metabolism; Dynamin isoforms; Dynamins - genetics; Endocytosis; GTP Phosphohydrolases; Humans; Mutation; Charcot-marie-tooth neuropathy; Centronuclear myopathy; Developmental epilepsy encephalopathy; Dynamin isoforms; Cancer

Dynamin, a 100-kDa GTPase, is one of the most-characterized membrane fission machineries catalyzing vesicle release from plasma membrane during endocytosis. The human genome encodes three dynamins: DNM1, DNM2 and DNM3, with high amino acid similarity but distinct expression patterns. Ever since the...