Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.
Journal
Science advances
ISSN: 2375-2548
Titre abrégé: Sci Adv
Pays: United States
ID NLM: 101653440
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
06
08
2020
accepted:
07
12
2020
entrez:
1
2
2021
pubmed:
2
2
2021
medline:
19
4
2022
Statut:
epublish
Résumé
Reversible modification of proteins with linkage-specific ubiquitin chains is critical for intracellular signaling. Information on physiological roles and underlying mechanisms of particular ubiquitin linkages during human development are limited. Here, relying on genomic constraint scores, we identify 10 patients with multiple congenital anomalies caused by hemizygous variants in
Identifiants
pubmed: 33523931
pii: 7/4/eabe2116
doi: 10.1126/sciadv.abe2116
pmc: PMC7817106
pii:
doi:
Substances chimiques
Chromatin
0
Ubiquitin
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2021 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. Distributed under a Creative Commons Attribution NonCommercial License 4.0 (CC BY-NC).
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