Pathogenic O-GlcNAc dyshomeostasis associated with cortical malformations and hyperactivity Article Swipe
Florence Authier
,
Asad Jan
,
Islam Faress
,
Christian Stald Skoven
,
Iria Esperon‐Abril
,
Shagana Tharmakulasingam Balasubramaniam
,
Kévin-Sébastien Coquelin
,
Jens Randel Nyengaard
,
Carsten Scavenius
,
Benedetta Attianese
,
Oscar G Sevillano-Quispe
,
Simon Fristed Eskildsen
,
Jesper Skovhus Thomsen
,
Brian Benjamin Hansen
,
Daan M. F. van Aalten
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.7554/elife.107170
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.7554/elife.107170
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 comprehensive analyses encompassing behaviour and brain architecture in a rodent model carrying the C921Y OGT-ID variant. These mice show a range of behavioural deficits, including hyperactivity, impulsivity, and associative learning phenotypes. Structural studies, using micro-computed tomography and magnetic resonance imaging, revealed reduced skull size, microcephaly, reduced cortical thickness and hypoplastic corpus callosum. These were associated with nodular cortical dysplasia affecting the superficial layers of the cingulate cortex. Mechanistically, quantitative proteomic analyses revealed O-GlcNAc dyshomeostasis associated with distinct perturbed molecular pathways involved in brain development. Taken together, these data reveal neurodevelopmental defects associated with O-GlcNAc dyshomeostasis and provide a platform for dissecting mechanism and treatments of OGT-ID.
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- article
- Language
- en
- Landing Page
- https://doi.org/10.7554/elife.107170
- OA Status
- gold
- Cited By
- 1
- References
- 120
- Related Works
- 10
- OpenAlex ID
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Pathogenic O-GlcNAc dyshomeostasis associated with cortical malformations and hyperactivityWork title
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articleOpenAlex work type
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enPrimary language
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2025Year of publication
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2025-09-05Full publication date if available
- Authors
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Florence Authier, Asad Jan, Islam Faress, Christian Stald Skoven, Iria Esperon‐Abril, Shagana Tharmakulasingam Balasubramaniam, Kévin-Sébastien Coquelin, Jens Randel Nyengaard, Carsten Scavenius, Benedetta Attianese, Oscar G Sevillano-Quispe, Simon Fristed Eskildsen, Jesper Skovhus Thomsen, Brian Benjamin Hansen, Daan M. F. van AaltenList of authors in order
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https://doi.org/10.7554/elife.107170Publisher landing page
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://doi.org/10.7554/elife.107170Direct OA link when available
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Neuroscience, Medicine, PsychologyTop concepts (fields/topics) attached by OpenAlex
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10Other works algorithmically related by OpenAlex
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