Understanding how specific enzymes affect human health and diseases
Defining the Role of Aminoacyl-tRNA Synthetases in Human Health and Disease
['FUNDING_OTHER'] · UNIVERSITY OF MICHIGAN AT ANN ARBOR · NIH-10879041
This study is looking at how changes in certain genes that help make proteins can lead to inherited diseases, with the goal of better understanding these conditions to improve diagnosis and treatment for patients.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MICHIGAN AT ANN ARBOR (nih funded) |
| Locations | 1 site (ANN ARBOR, UNITED STATES) |
| Trial ID | NIH-10879041 on ClinicalTrials.gov |
What this research studies
This research investigates aminoacyl-tRNA synthetases (ARSs), which are crucial enzymes that attach amino acids to tRNA molecules, a process essential for protein synthesis. The study aims to identify how variations in ARS genes contribute to various inherited diseases by analyzing their effects on protein translation and disease phenotypes. By using a range of model systems, including computational and biological models, the research seeks to clarify the mechanisms by which these genetic variations lead to health issues, ultimately improving patient diagnosis and treatment options.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with inherited diseases that may be associated with mutations in aminoacyl-tRNA synthetase genes.
Not a fit: Patients with diseases not linked to aminoacyl-tRNA synthetase mutations are unlikely to benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostic tools and targeted therapies for patients with diseases linked to ARS gene mutations.
How similar studies have performed: Previous research has shown promising results in understanding the role of aminoacyl-tRNA synthetases in disease, indicating that this approach has potential for significant findings.
Where this research is happening
ANN ARBOR, UNITED STATES
- UNIVERSITY OF MICHIGAN AT ANN ARBOR — ANN ARBOR, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ANTONELLIS, ANTHONY — UNIVERSITY OF MICHIGAN AT ANN ARBOR
- Study coordinator: ANTONELLIS, ANTHONY
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.