Daan M. F. van Aalten

Pathogenic O-GlcNAc dyshomeostasis associated with cortical malformations and hyperactivity

This study investigates a rodent model with an OGT-ID variant, revealing neurodevelopmental defects and behavioural abnormalities linked to O-GlcNAc dyshomeostasis.

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

This study investigates OGA inhibition as a potential therapy for OGT-CDG by creating a mouse model and showing partial restoration of O-GlcNAc homeostasis.

Multi-domain O-GlcNAcase structures reveal allosteric regulatory mechanisms

This study presents multi-domain OGA structures from Trichoplax adhaerens and human, revealing allosteric regulatory mechanisms involving the pHAT domain.

A triple fluorescence approach to measure O-GlcNAc dyshomeostasis in stem cells

This paper introduces a triple fluorescence stem cell sorting approach to measure O-GlcNAc dyshomeostasis and demonstrates its utility for high-throughput screening.

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

This study identifies synaptogenesis and sleep stability defects in a Drosophila model of OGT intellectual disability and shows partial rescue by modulating OGA activity.

Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability

This paper describes mouse models with OGT mutations that exhibit neurodevelopmental defects, including microcephaly and cognitive impairments, to study OGT-CDG mechanisms and potential treatments.

Neuroectoderm phenotypes in a human stem cell model of O-GlcNAc transferase intellectual disability

This study investigates OGT-CDG using stem cells, finding disrupted O-GlcNAc homeostasis and morphology during neuroectoderm differentiation but preserved stemness and differentiation potential.

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

The paper shows that an OGT variant causes reduced pluripotent stem cell self-renewal and lower stem cell marker levels in mouse embryonic stem cells.

A mutant bacterial O-GlcNAcase visualizes a progressive decline of protein O-GlcNAcylation in early Drosophila embryos critical for neurodevelopment

The paper develops a fluorescent probe to visualize O-GlcNAcylation in Drosophila embryos, showing its decline during early development and its role in neurodevelopmental gene regulation.

Intellectual disability-associated disruption of O-GlcNAcylation impairs neuronal development and cognitive function in Drosophila

This study shows that OGT mutations impair cognitive function in Drosophila by disrupting O-GlcNAcylation, and that blocking OGA can correct the deficit.