An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal

O-linked β-N-acetylglucosamine (O-GlcNAc) transferase (OGT) is an essential enzyme that modifies proteins with O-GlcNAc. Inborn OGT genetic variants were recently shown to mediate a novel type of congenital disorder of glycosylation (OGT-CDG), which is characterised by X-linked intellectual disabili...

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Detalles Bibliográficos
Autores principales: Omelková, Michaela, Fenger, Christina Dühring, Murray, Marta, Hammer, Trine Bjørg, Pravata, Veronica M., Bartual, Sergio Galan, Czajewski, Ignacy, Bayat, Allan, Ferenbach, Andrew T., Stavridis, Marios P., van Aalten, Daan M. F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10309585/
https://www.ncbi.nlm.nih.gov/pubmed/37334838
http://dx.doi.org/10.1242/dmm.049132

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