Article

Pathogenic O-GlcNAc dyshomeostasis is associated with cortical malformations and hyperactivity

2025-04-28

Abstract excerpt

Missense variants in the O-GlcNAc transferase ( OGT) gene have recently been shown to segregate with a syndromic form of intellectual disability (OGT-ID), underscoring the importance of protein O-GlcNAcylation in brain function. However, the underlying pathophysiological mechanisms linking ID to potential OGT malfunction—whether developmental, neurophysiological, or both—remain unclear. Here, we present comprehen...

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Literature Corpus work: 8584e3cf-d959-5531-884b-344a9ed6d88c
DOI: 10.1101/2025.04.27.650822

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