Article

An O-GlcNAc transferase pathogenic variant that affects pluripotent stem cell self-renewal

2023-03-13

Abstract excerpt

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 characterized by X-linked intellectual disability (XLID) and developmental delay. Here, we report an OGT C921Y variant which co-segregates with XLID and epileptic...

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Literature Corpus work: 909ed619-e6d1-57e0-985f-4dbb132c1954
DOI: 10.1101/2023.03.13.531514

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