Understanding how UFM1 affects cell metabolism and function
Official title: The roles of the UFM1 post-translational modification in cellular metabolism
Funded at Ut Southwestern Medical Center · NIH-10873278 · Data updated 2026-11-12
This study is looking at how a specific protein modification called UFM1 affects how our cells use energy and make important building blocks, especially in people with a condition caused by a problem with the UFSP2 enzyme, which could help us understand some muscle and brain disorders better.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project start | July 1, 2023 |
| Project end | June 30, 2025 |
| Funding year | 2024 |
| Award (this year) | $125,000 |
| NIH project number | 5K99GM151439-02 |
| Project ID | NIH-10873278 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children aged 0-11 years who have skeletal or neurodevelopmental disorders associated with UFSP2 deficiency.
✕Less likely to help
Patients without any metabolic disorders or those outside the age range of 0-11 years may not benefit from this research.
What this research studies
This research investigates the role of UFM1, a post-translational modification, in regulating cellular metabolism, particularly focusing on mitochondrial respiration and nucleotide metabolism. The study aims to explore how defects in the enzyme UFSP2, which removes UFM1 from proteins, can lead to excessive UFMylation and associated cellular dysfunctions. By examining patient-derived fibroblasts with UFSP2 deficiency, the research seeks to uncover the molecular mechanisms that link UFMylation to metabolic processes in cells. This could provide insights into the underlying causes of certain skeletal and neurodevelopmental disorders.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for treating metabolic disorders linked to UFM1 and UFSP2 deficiencies.
How similar studies have gone: While the specific role of UFM1 in metabolism is less explored, related research on post-translational modifications has shown promise in understanding cellular processes and disease mechanisms.
Where this research is happening
-
Ut Southwestern Medical Center
Dallas, United States Active
Researchers
- Principal investigator: Nguyen, Phong Thanh — Ut Southwestern Medical Center
- Study coordinator: Nguyen, Phong Thanh
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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.