Article

Intellectual disability and neurogenesis defects associated with increased turnover of an O-GlcNAcase variant

2023-11-24

Abstract excerpt

Intellectual Disability (ID) is characterised by substantial limitations in cognitive function and adaptive behaviour, affecting 1-3% of the population. Protein O-GlcNAcylation is a posttranslational modification of nucleocytoplasmic proteins regulated by two opposing enzymes: O-GlcNAc transferase (OGT) and O-GlcNAcase (OGA). Recently, missense mutations in OGT have been shown to segregate with ID, associated with...

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Literature Corpus work: 8f6eea5a-b787-5ec0-bac4-3cb6e8b9bd69
DOI: 10.1101/2023.11.23.23298195

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