Rational correction of pathogenic conformational defects in HTRA1.
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
16 Jul 2024
16 Jul 2024
Historique:
received:
21
01
2021
accepted:
24
06
2024
medline:
17
7
2024
pubmed:
17
7
2024
entrez:
16
7
2024
Statut:
epublish
Résumé
Loss-of-function mutations in the homotrimeric serine protease HTRA1 cause cerebral vasculopathy. Here, we establish independent approaches to achieve the functional correction of trimer assembly defects. Focusing on the prototypical R274Q mutation, we identify an HTRA1 variant that promotes trimer formation thus restoring enzymatic activity in vitro. Genetic experiments in Htra1
Identifiants
pubmed: 39013852
doi: 10.1038/s41467-024-49982-8
pii: 10.1038/s41467-024-49982-8
doi:
Substances chimiques
High-Temperature Requirement A Serine Peptidase 1
EC 3.4.21.-
HTRA1 protein, human
EC 3.4.21.-
HtrA1 protein, mouse
EC 3.4.21.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
5944Informations de copyright
© 2024. The Author(s).
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