Understanding how LUBAC deficiency affects glycogen structure and related diseases
Uncovering the Mechanisms of Amylopectinosis in LUBAC Deficiency
This study is looking at how a protein complex called LUBAC helps keep glycogen, our body's energy storage, in good shape, and it aims to understand how problems with LUBAC can lead to serious health issues like heart and muscle diseases, as well as brain disorders, so we can find better treatments for those affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project ID | NIH-10940537 on NIH RePORTER |
What this research studies
This research investigates the role of the Linear Ubiquitin Chain Assembly Complex (LUBAC) in maintaining the proper structure of glycogen, which is essential for energy storage in the body. By studying how deficiencies in LUBAC lead to the formation of insoluble glycogen aggregates known as polyglucosans, the research aims to uncover the underlying mechanisms that contribute to severe health issues such as cardiomyopathy, muscle disorders, and neurodegeneration. The approach involves analyzing the interactions of specific proteins and enzymes involved in glycogen metabolism, which could provide insights into potential therapeutic targets for affected patients.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with LUBAC deficiency or related glycogen storage disorders, particularly those experiencing symptoms like muscle weakness or neurodegeneration.
Not a fit: Patients without LUBAC deficiency or those not affected by glycogen storage disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for conditions caused by glycogen structure abnormalities, improving patient outcomes.
How similar studies have performed: Previous research has shown promising results in understanding glycogen metabolism and its disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
Dallas, United States
- Ut Southwestern Medical Center — Dallas, United States (Active)
Researchers
- Principal investigator: Mitra, Sharmistha — Ut Southwestern Medical Center
- Study coordinator: Mitra, Sharmistha
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.