Article
Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability.
Disease models & mechanisms - 1 Apr 2024
Authier Florence, Ondruskova Nina, Ferenbach Andrew T, McNeilly Alison D, van Aalten Daan M F
Abstract excerpt
The addition of O-linked β-N-acetylglucosamine (O-GlcNAc) to proteins (referred to as O-GlcNAcylation) is a modification that is crucial for vertebrate development. O-GlcNAcylation is catalyzed by O-GlcNAc transferase (OGT) and reversed by O-GlcNAcase (OGA). Missense variants of OGT have recently been shown to segregate with an X-linked syndromic form of intellectual disability, OGT-linked congenital disorder of...
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