PXD074604 is an
original dataset announced via ProteomeXchange.
Dataset Summary
| Title | Pathogenic O-GlcNAc dyshomeostasis is associated with cortical malformations and hyperactivity |
| Description | 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 of a rodent model carrying the pathogenic 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. Detailed histological analyses revealed dysplastic changes in the neocortex, predominantly affecting the superficial layers of 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. |
| HostingRepository | PRIDE |
| AnnounceDate | 2026-07-28 |
| AnnouncementXML | Submission_2026-07-28_04:56:19.941.xml |
| DigitalObjectIdentifier | https://doi.org/10.6019/PXD074604 |
| ReviewLevel | Peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Supported dataset by repository |
| PrimarySubmitter | Carsten Scavenius |
| SpeciesList | scientific name: Mus musculus (Mouse); NCBI TaxID: NEWT:10090; |
| ModificationList | monohydroxylated residue; iodoacetamide derivatized residue |
| Instrument | Orbitrap Eclipse |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|
| 0 | 2026-02-18 12:24:17 | ID requested | |
| ⏵ 1 | 2026-07-28 04:56:20 | announced | |
| 2 | 2026-07-28 05:04:34 | announced | 2026-07-28: Updated project metadata. |
Publication List
Keyword List
| submitter keyword: neurodevelopment,Intellectual disability, O-glycosylation, cortical dysplasia, behaviour, O-GlcNAc |
Contact List
| Carsten Scavenius |
|---|
| contact affiliation | Molecular Biology and Genetics, Aarhus University |
| contact email | csss@mbg.au.dk |
| lab head | |
| Carsten Scavenius |
|---|
| contact affiliation | Department og Molecular Biology and Genetics
Aarhus University |
| contact email | csss@mbg.au.dk |
| dataset submitter | |
Full Dataset Link List
Dataset FTP location
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| PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD074604
- Label: PRIDE project
- Name: Pathogenic O-GlcNAc dyshomeostasis is associated with cortical malformations and hyperactivity
