The exocyst complex in neurological disorders.
Journal
Human genetics
ISSN: 1432-1203
Titre abrégé: Hum Genet
Pays: Germany
ID NLM: 7613873
Informations de publication
Date de publication:
Aug 2023
Aug 2023
Historique:
received:
25
02
2023
accepted:
11
04
2023
medline:
25
8
2023
pubmed:
22
4
2023
entrez:
21
04
2023
Statut:
ppublish
Résumé
Exocytosis is the process by which secretory vesicles fuse with the plasma membrane to deliver materials to the cell surface or to release cargoes to the extracellular space. The exocyst-an evolutionarily conserved octameric protein complex-mediates spatiotemporal control of SNARE complex assembly for vesicle fusion and tethering the secretory vesicles to the plasma membrane. The exocyst participates in diverse cellular functions, including protein trafficking to the plasma membrane, membrane extension, cell polarity, neurite outgrowth, ciliogenesis, cytokinesis, cell migration, autophagy, host defense, and tumorigenesis. Exocyst subunits are essential for cell viability; and mutations or variants in several exocyst subunits have been implicated in human diseases, mostly neurodevelopmental disorders and ciliopathies. These conditions often share common features such as developmental delay, intellectual disability, and brain abnormalities. In this review, we summarize the mutations and variants in exocyst subunits that have been linked to disease and discuss the implications of exocyst dysfunction in other disorders.
Identifiants
pubmed: 37085629
doi: 10.1007/s00439-023-02558-w
pii: 10.1007/s00439-023-02558-w
pmc: PMC10449956
doi:
Substances chimiques
Vesicular Transport Proteins
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1263-1270Subventions
Organisme : NINDS NIH HHS
ID : R37 NS057553
Pays : United States
Organisme : NIH HHS
ID : R37NS057553
Pays : United States
Organisme : NIH HHS
ID : R01NS101986
Pays : United States
Organisme : NIH HHS
ID : R01GM068803
Pays : United States
Informations de copyright
© 2023. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.
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