How a small sugar tag on proteins (O-GlcNAc) affects X-linked intellectual disability
Official title: The Role of the O-GlcNAc Modification in X-linked Intellectual Disability
Funded at University of Georgia · NIH-11262835 · Data updated 2026-11-12
The team is looking at whether mutations in the OGT gene change a protein 'sugar tag' called O-GlcNAc and how those changes harm brain cells in people with X-linked intellectual disability.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Georgia NIH-funded |
| Lab location | 1 site (Athens, United States) |
| Project start | February 1, 2023 |
| Project end | January 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $370,713 |
| NIH project number | 5R01HD110099-04 |
| Project ID | NIH-11262835 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates would be males (or families) affected by X-linked intellectual disability with known OGT mutations or individuals willing to provide samples for laboratory study of OGT-related changes.
✕Less likely to help
People whose intellectual disability is caused by other genes or non-OGT-related conditions are unlikely to benefit directly from this research.
What this research studies
Researchers will run lab-based biochemical tests to see how OGT gene variants alter the enzyme that adds O-GlcNAc to proteins. They use an isotope-based method to measure O-GlcNAc at specific sites and have made human stem cells with the exact XLID mutations to study effects in developing neurons. The team is also mapping which proteins interact with OGT to find affected pathways, including epigenetic and synapse-related proteins. This work aims to link specific OGT mutations to cellular changes that could explain learning and developmental problems.
Why it matters
Potential benefit: If successful, this work could reveal molecular markers or targets that help diagnose or guide future treatments for people with OGT-linked XLID.
How similar studies have gone: Previous studies have identified OGT mutations in XLID and shown they change O-GlcNAc modification, but moving from these findings to diagnostics or therapies remains an early and developing area.
Where this research is happening
-
University of Georgia
Athens, United States Active
Researchers
- Principal investigator: Wells, Lance — University of Georgia
- Study coordinator: Wells, Lance
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About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.