How a specific protein affects muscle development and maintenance
REGULATION OF SKELETAL MUSCLE DEVELOPMENT AND MAINTENANCE BY PROTEIN O-GLUCOSYLTRANSFERASE 1 (POGLUT1)
['FUNDING_R01'] · BAYLOR COLLEGE OF MEDICINE · NIH-10864974
This study is looking at how a protein called POGLUT1 helps keep our muscles healthy and how changes in this protein can lead to muscle problems like limb-girdle muscular dystrophy, especially in families who have experienced this condition.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BAYLOR COLLEGE OF MEDICINE (nih funded) |
| Locations | 1 site (HOUSTON, UNITED STATES) |
| Trial ID | NIH-10864974 on ClinicalTrials.gov |
What this research studies
This research investigates the role of a protein called POGLUT1 in the development and maintenance of skeletal muscle. It focuses on how glycosylation, a process where carbohydrates are added to proteins, influences cell communication through the Notch signaling pathway, which is crucial for muscle health. The study aims to understand the genetic mutations that lead to conditions like limb-girdle muscular dystrophy, particularly in families affected by this disorder. By using advanced techniques like CRISPR, the research seeks to uncover the molecular mechanisms behind these conditions and their impact on muscle function.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with limb-girdle muscular dystrophy or those with a family history of related muscle disorders.
Not a fit: Patients with muscle disorders not linked to glycosylation or the Notch signaling pathway may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for muscular dystrophy and other related muscle disorders.
How similar studies have performed: Previous research has shown promising results in understanding glycosylation disorders and their effects on muscle development, indicating potential for success in this area.
Where this research is happening
HOUSTON, UNITED STATES
- BAYLOR COLLEGE OF MEDICINE — HOUSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: JAFAR-NEJAD, HAMED — BAYLOR COLLEGE OF MEDICINE
- Study coordinator: JAFAR-NEJAD, HAMED
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.