https://scholars.lib.ntu.edu.tw/handle/123456789/637204
標題: | Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues | 作者: | Laiman, Jessica Lin, Shan-Shan YA-WEN LIU |
關鍵字: | Cancer; Centronuclear myopathy; Charcot-marie-tooth neuropathy; Developmental epilepsy encephalopathy; Dynamin isoforms | 公開日期: | 四月-2023 | 卷: | 81 | 來源出版物: | Current Oopinion in Eell Biology | 摘要: | 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 discoveries of dynamin mutations associated with human diseases in 2005, dynamin has become a paradigm for studying pathogenic mechanisms of mutant proteins from the aspects of structural biology, cell biology, model organisms as well as therapeutic strategy development. Here, we review the diseases and pathogenic mechanisms caused by mutations of DNM1 and DNM2, focusing on the activity requirement and regulation of dynamins in different tissues. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/637204 | ISSN: | 09550674 | DOI: | 10.1016/j.ceb.2023.102174 |
顯示於: | 分子醫學研究所 |
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