Article

Genetic rescue of pathogenic O-GlcNAc dyshomeostasis associated with microcephaly and motor deficits

2025-11-12

Abstract excerpt

Missense variants in O-GlcNAc transferase (OGT) result in OGT congenital disorder of glycosylation (OGT-CDG), an intellectual disability syndrome associated with O-GlcNAc dyshomeostasis and a range of neurodevelopmental defects. Inhibition of O-GlcNAcase (OGA), the enzyme responsible for removing protein O-GlcNAcylation, has been explored as a target for modulating brain O-GlcNAc homeostasis in neurodegenerative d...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 36127576-5079-523a-8d0d-f897b5dff172
DOI: 10.1101/2025.11.12.687959

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genetic rescue of pathogenic O-GlcNAc dyshomeostasis associated with microcephaly and motor deficitsDOI 10.1101/2025.11.12.687959Read

Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disabilitySemantic proximity Read

Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability.Semantic proximity Read

Pathogenic O-GlcNAc dyshomeostasis is associated with cortical malformations and hyperactivitySemantic proximity Read

O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.Semantic proximity Read

The O-GlcNAc cycling in neurodevelopment and associated diseases.Semantic proximity Read

Intellectual disability-associated disruption of O-GlcNAcylation impairs neuronal development and cognitive function in <i>Drosophila</i>Semantic proximity Read

Rescuable sleep and synaptogenesis phenotypes in a Drosophila model of O-GlcNAc transferase intellectual disability.Semantic proximity Read

Brain O-GlcNAcylation: From Molecular Mechanisms to Clinical Phenotype.Semantic proximity Read

Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathologySemantic proximity Read

CRISPR-Cas9-mediated depletion of <i>O</i> -GlcNAc hydrolase and transferase for functional dissection of <i>O</i> -GlcNAcylation in human cellsSemantic proximity Read

Intellectual disability and neurogenesis defects associated with increased turnover of an O-GlcNAcase variantSemantic proximity Read

Neuronal loss of <i>Galnt2</i> Impairs O-glycosylation and Leads to Neurobehavioral Deficits Mimicking GALNT2-CDGSemantic proximity Read