Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues
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...
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| Published in | Current opinion in cell biology Vol. 81; p. 102174 |
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| Main Authors | , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Elsevier Ltd
01.04.2023
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| Subjects | |
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| Abstract | 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. |
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| AbstractList | 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.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. 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. |
| ArticleNumber | 102174 |
| Author | Laiman, Jessica Lin, Shan-Shan Liu, Ya-Wen |
| Author_xml | – sequence: 1 givenname: Jessica surname: Laiman fullname: Laiman, Jessica organization: Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan – sequence: 2 givenname: Shan-Shan surname: Lin fullname: Lin, Shan-Shan organization: Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan – sequence: 3 givenname: Ya-Wen orcidid: 0000-0003-0180-4142 surname: Liu fullname: Liu, Ya-Wen email: yawenliu@ntu.edu.tw organization: Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/37230036$$D View this record in MEDLINE/PubMed |
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| Keywords | Charcot-marie-tooth neuropathy Centronuclear myopathy Developmental epilepsy encephalopathy Dynamin isoforms Cancer |
| Language | English |
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| SubjectTerms | 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 |
| Title | Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues |
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