Understanding how a specific protein modification affects intellectual disability in males
The Role of the O-GlcNAc Modification in X-linked Intellectual Disability
This study is looking at how changes in a specific protein related to X-linked intellectual disability (which affects some boys) might help us find new ways to treat this condition.
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 ID | NIH-11034104 on NIH RePORTER |
What this research studies
This research investigates the role of a protein modification called O-GlcNAc in X-linked intellectual disability (XLID), which affects about 1 in 500 males. The study focuses on unique mutations in the gene responsible for O-GlcNAc transferase (OGT) that lead to changes in the protein's structure and function. By using advanced techniques like Cas9-engineered stem cells and isotope-based approaches, researchers aim to understand how these mutations impact protein interactions and cellular processes. This knowledge could help identify new therapeutic targets for XLID.
Who could benefit from this research
Good fit: Ideal candidates for this research are males diagnosed with X-linked intellectual disability, particularly those with identified mutations in the OGT gene.
Not a fit: Patients with intellectual disabilities not linked to X-linked genetic factors or those without OGT mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments or interventions for individuals with X-linked intellectual disability.
How similar studies have performed: Previous research has shown promising results in understanding the role of protein modifications in various diseases, suggesting that this approach could yield valuable insights.
Where this research is happening
Athens, United States
- University of Georgia — Athens, United States (Active)
Researchers
- Principal investigator: Wells, Lance — University of Georgia
- Study coordinator: Wells, Lance
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 below.