PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Journal
Science translational medicine
ISSN: 1946-6242
Titre abrégé: Sci Transl Med
Pays: United States
ID NLM: 101505086
Informations de publication
Date de publication:
31 05 2023
31 05 2023
Historique:
medline:
2
6
2023
pubmed:
31
5
2023
entrez:
31
5
2023
Statut:
ppublish
Résumé
A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and translocation of protein substrates by six AAA-ATPase proteasome subunits (ATPase-associated with various cellular activities) termed PSMC1-6, which are required for degradation of proteins by 26
Identifiants
pubmed: 37256937
doi: 10.1126/scitranslmed.abo3189
pmc: PMC10506367
mid: NIHMS1919500
doi:
Substances chimiques
Adenosine Triphosphatases
EC 3.6.1.-
Interferon Type I
0
Proteasome Endopeptidase Complex
EC 3.4.25.1
PSMC3 protein, human
EC 3.6.4.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
eabo3189Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : R01 HL149853
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH101221
Pays : United States
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