How sugars attach to important cell-surface protein parts
O-glycosylation of cysteine-rich modules
The team will map tiny sugar tags on cell-surface proteins to help people with rare genetic disorders that affect these sugar-modifying enzymes.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Georgia NIH-funded |
| Lab location | 1 site (Athens, United States) |
| Project ID | NIH-11234264 on NIH RePORTER |
What this research studies
This research will find where small sugar molecules (called O-glycans) attach to two common protein pieces found on many cell-surfaces and in the space between cells. The team uses chemical labels, mass spectrometry, and genetic tools to find which proteins carry these sugar tags and which enzymes add them. They will study how these sugar changes affect protein function in cells and animal models and connect those findings to human genetic disorders caused by mutations in the sugar-adding enzymes. Results could explain why some inherited conditions affect development and blood vessels and point toward better diagnostics or therapies.
Who could benefit from this research
Good fit: People with known mutations in the enzymes POFUT1, POGLUT1, or POFUT2 or with rare congenital syndromes linked to abnormal protein glycosylation would be most relevant.
Not a fit: Patients whose conditions are unrelated to these specific sugar-modifying pathways (for example, common metabolic or infectious diseases) are unlikely to gain direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could identify specific proteins and pathways affected in rare genetic disorders and suggest new targets for diagnosis or treatment.
How similar studies have performed: Prior sequence-based searches found many targets, but this unbiased chemical-labeling and genetic approach is relatively new and may reveal proteins that were missed before.
Where this research is happening
Athens, United States
- University of Georgia — Athens, United States (Active)
Researchers
- Principal investigator: Haltiwanger, Robert S. — University of Georgia
- Study coordinator: Haltiwanger, Robert S.
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.