Missense mutation in selenocysteine synthase causes cardio-respiratory failure and perinatal death in mice which can be compensated by selenium-independent GPX4.
GPX4
NRF2
SEPSECS
Sedaghatian disease
Selenoprotein
Journal
Redox biology
ISSN: 2213-2317
Titre abrégé: Redox Biol
Pays: Netherlands
ID NLM: 101605639
Informations de publication
Date de publication:
12 Nov 2021
12 Nov 2021
Historique:
received:
01
10
2021
revised:
26
10
2021
accepted:
11
11
2021
pubmed:
19
11
2021
medline:
19
11
2021
entrez:
18
11
2021
Statut:
aheadofprint
Résumé
Selenoproteins are a small family of proteins containing the trace element selenium in form of the rare amino acid selenocysteine (Sec), which is decoded by the UGA codon. In humans, a number of pathogenic variants in genes encoding distinct selenoproteins or selenoprotein biosynthesis factors have been identified. Pathogenic variants in selenocysteine synthase (SEPSECS), which catalyzes the last step in Sec-tRNA
Identifiants
pubmed: 34794077
pii: S2213-2317(21)00348-7
doi: 10.1016/j.redox.2021.102188
pmc: PMC8605217
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
102188Informations de copyright
Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.