Inhibition of NR5A1 Phosphorylation Alleviates a Transcriptional Suppression Defect Caused by a Novel
CLK1/4 inhibitor
NR0B1 mutation
NR5A1 phosphorylation
congenital adrenal hypoplasia
Journal
Journal of the Endocrine Society
ISSN: 2472-1972
Titre abrégé: J Endocr Soc
Pays: United States
ID NLM: 101697997
Informations de publication
Date de publication:
01 Jun 2022
01 Jun 2022
Historique:
received:
10
01
2022
entrez:
20
5
2022
pubmed:
21
5
2022
medline:
21
5
2022
Statut:
epublish
Résumé
Mutations in the A middle-aged man was diagnosed with congenital adrenal hypoplasia associated with hypogonadotropic hypogonadism and genetic analysis revealed him to have a novel NR0B1 activity was evaluated in CLK1/4 inhibitor-treated 293T cells via immunoblotting and luciferase assays of the STAR promoter. TG003 treatment suppressed NR5A1 protein function to compensate for the mutant NR0B1 showing inhibited suppression of transcription. Immunoblotting analyses showed that the phosphorylation status of NR5A1 at Ser203 was attenuated by the CLK1/4 inhibitor. The specific reduction of NR5A1 phosphorylation by a CLK1/4 inhibitor may alleviate developmental defects in patients with NR0B1 mutations.
Identifiants
pubmed: 35592512
doi: 10.1210/jendso/bvac068
pii: bvac068
pmc: PMC9113462
doi:
Types de publication
Journal Article
Langues
eng
Pagination
bvac068Informations de copyright
© The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society.
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