How heparan sulfate–building proteins work and cause disease
Heparan sulfate co-polymerase function and defects in disease
Researchers are looking at how the two proteins that make heparan sulfate function and how their defects can lead to bone growths and cancer.
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-11174455 on NIH RePORTER |
What this research studies
This project explains why some people develop bone and cartilage tumors or cancer by studying the two proteins (EXT1 and EXT2) that build heparan sulfate chains on cells. Scientists will use high-resolution 3D structures and lab tests of normal and mutated proteins to see how changes disrupt chain formation. They compare enzyme activity of wild-type and disease-linked mutants to link specific defects to tissue problems. The work uses purified human proteins and biochemical assays to connect molecular changes to disease mechanisms.
Who could benefit from this research
Good fit: People with hereditary multiple exostoses, or patients whose tumors carry EXT1/EXT2 mutations, or those willing to donate tissue or genetic information for research would be most relevant.
Not a fit: Patients without EXT1/EXT2-related conditions or those seeking an immediate treatment change are unlikely to receive direct benefit from this lab-focused project.
Why it matters
Potential benefit: If successful, the work could reveal molecular causes of hereditary multiple exostoses and certain cancers and point toward new diagnostic markers or therapeutic targets.
How similar studies have performed: Structural and enzymatic studies of EXT proteins have recently provided new insights, but connecting specific mutations to disease mechanics remains an active and partly novel area of research.
Where this research is happening
Athens, United States
- University of Georgia — Athens, United States (Active)
Researchers
- Principal investigator: Moremen, Kelley W. — University of Georgia
- Study coordinator: Moremen, Kelley W.
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.