Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues.
Cancer
Centronuclear myopathy
Charcot-marie-tooth neuropathy
Developmental epilepsy encephalopathy
Dynamin isoforms
Journal
Current opinion in cell biology
ISSN: 1879-0410
Titre abrégé: Curr Opin Cell Biol
Pays: England
ID NLM: 8913428
Informations de publication
Date de publication:
Apr 2023
Apr 2023
Historique:
received:
16
02
2023
revised:
12
04
2023
accepted:
24
04
2023
medline:
12
6
2023
pubmed:
26
5
2023
entrez:
25
5
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 37230036
pii: S0955-0674(23)00023-6
doi: 10.1016/j.ceb.2023.102174
pii:
doi:
Substances chimiques
Dynamin II
EC 3.6.5.5
Dynamins
EC 3.6.5.5
GTP Phosphohydrolases
EC 3.6.1.-
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
102174Informations de copyright
Copyright © 2023 Elsevier Ltd. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.