Role of TOX3 in cerebellar development and movement disorders
Official title: Defining the role of Tox3 in congenital cerebellar hypoplasia and ataxia
Funded at Cedars-Sinai Medical Center · NIH-11362481 · Data updated 2026-11-12
A new study will explore how TOX3 controls the formation of cerebellar cells and how its loss leads to ataxia and related conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cedars-Sinai Medical Center NIH-funded |
| Lab location | 1 site (Los Angeles, United States) |
| Project start | July 15, 2024 |
| Project end | June 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $462,744 |
| NIH project number | 5R01NS131782-03 |
| Project ID | NIH-11362481 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with congenital cerebellar hypoplasia, ataxia, or related neurodevelopmental conditions may benefit from advances arising from this research.
✕Less likely to help
Direct benefits to patients are not guaranteed; findings may primarily advance basic scientific knowledge before therapies are developed.
What this research studies
Researchers will use a conditional TOX3 knockout mouse model to study how TOX3 shapes the development of cerebellar granule cells from the rhombic lip. The project will examine epigenetic and gene-expression changes that guide precursor cells toward the granule cell fate and how this process affects cerebellar circuitry and motor coordination. By linking molecular changes to observable movement problems, the study aims to uncover mechanisms that underlie ataxia, autism, and intellectual deficits. The work could identify potential targets for therapies that support cerebellar development and function.
Why it matters
Potential benefit: Understanding TOX3’s role could lead to new strategies to prevent or lessen movement disorders and cognitive symptoms linked to cerebellar dysfunction.
How similar studies have gone: Prior work shows that Tox family genes influence neural development and that altering epigenetic regulators can cause cerebellar defects, supporting potential relevance.
Where this research is happening
-
Cedars-Sinai Medical Center
Los Angeles, United States Active
Researchers
- Principal investigator: Breunig, Joshua John — Cedars-Sinai Medical Center
- Study coordinator: Breunig, Joshua John
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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.