B3GNT4 mutations and alpha-dystroglycanopathy biology
Official title: Role of B3GNT4 mutations in alpha-dystroglycanopathy
Funded at Ut Southwestern Medical Center · NIH-11454070 · Data updated 2026-11-12
Researchers are studying how B3GNT4 works in brain and muscle cells to understand its possible role in a rare muscular and brain disease.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project start | August 1, 2026 |
| Project end | July 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $166,000 |
| NIH project number | 1R03TR005985-01A1 |
| Project ID | NIH-11454070 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with alpha-dystroglycanopathy or related muscular/brain disorders could benefit from future advances stemming from this work.
✕Less likely to help
Healthy individuals or those with non-related conditions are unlikely to gain direct benefit from this basic research.
What this research studies
This project will create brain and skeletal muscle cell models with B3GNT4 knocked out, and versions that restore normal B3GNT4 or carry the disease-linked G160W change. The team will perform in vitro biochemical tests using purified B3GNT4 to uncover how it helps build specific sugar chains. The goal is to learn how B3GNT4 might contribute to alpha-dystroglycanopathy and related conditions, which could point to future therapeutic approaches. The work is designed to generate foundational tools and data that can guide further studies in this area.
Why it matters
Potential benefit: If successful, the research could clarify how B3GNT4 mutations lead to disease and inform future therapies or diagnostics for alpha-dystroglycanopathy.
How similar studies have gone: Preliminary data suggest B3GNT4 has a role in glycosylation; similar approaches have advanced understanding in related enzymes, though this specific gene-disease link is still being elucidated.
Where this research is happening
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Ut Southwestern Medical Center
Dallas, United States Active
Researchers
- Principal investigator: Kohler, Jennifer J — Ut Southwestern Medical Center
- Study coordinator: Kohler, Jennifer J
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.