How changes in ATAD3A affect lysosomes and brain cell development
Role of ATAD3A in Lysosomal Homeostasis and Neurogenesis
['FUNDING_R01'] · OKLAHOMA MEDICAL RESEARCH FOUNDATION · NIH-11167556
This project looks at how defects in the ATAD3A protein disrupt lysosome health and nerve cell development in people with ATAD3A-related neurological conditions.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | OKLAHOMA MEDICAL RESEARCH FOUNDATION (nih funded) |
| Locations | 1 site (OKLAHOMA CITY, UNITED STATES) |
| Trial ID | NIH-11167556 on ClinicalTrials.gov |
What this research studies
Researchers will use fruit fly models and stem cells made from patients with ATAD3A mutations to follow what goes wrong inside cells. They will map proteins that interact with ATAD3A and study signaling pathways that control nutrient sensing and lysosome formation, including mTORC1 and Rag GTPases. By connecting these cellular changes to how neurons form and survive, the team aims to explain the nerve and eye problems seen in patients and point to ways to correct them. The work combines molecular biochemistry, cell biology, and patient-derived cell models to build a bridge from cells to symptoms.
Who could benefit from this research
Good fit: Ideal candidates are people or families with known ATAD3A mutations or with early-onset peripheral neuropathy, optic atrophy, or related neurodevelopmental defects who might provide samples or enroll in future studies.
Not a fit: People whose neurological problems are caused by unrelated genes or conditions likely would not benefit directly from this specific project, and direct patient treatments are not expected during this basic research phase.
Why it matters
Potential benefit: If successful, this work could reveal targets and strategies for developing therapies to help people with ATAD3A-related neurodevelopmental and neuropathic conditions.
How similar studies have performed: Similar approaches using patient-derived stem cells and animal models have clarified mechanisms for other mitochondrial and neurodevelopmental disorders, but applying these methods specifically to ATAD3A is relatively new.
Where this research is happening
OKLAHOMA CITY, UNITED STATES
- OKLAHOMA MEDICAL RESEARCH FOUNDATION — OKLAHOMA CITY, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: YOON, WAN HEE — OKLAHOMA MEDICAL RESEARCH FOUNDATION
- Study coordinator: YOON, WAN HEE
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.