Role of THAP1 in brain cell support cells shaping brain development
Official title: Role of DYT6 Dystonia Protein THAP1 in Oligodendroglial Mediated ECM Homeostasis During CNS Development
Funded at Case Western Reserve University · NIH-11596702 · Data updated 2026-11-12
Aims to understand how the THAP1 protein in oligodendrocyte lineage cells helps shape the brain’s environment and myelination during development, which may relate to a movement disorder called DYT6 dystonia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Case Western Reserve University NIH-funded |
| Lab location | 1 site (Cleveland, United States) |
| Project start | July 1, 2022 |
| Project end | June 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $73,820 |
| NIH project number | 3R01NS122990-06S1 |
| Project ID | NIH-11596702 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with DYT-THAP1 (DYT6) dystonia or related white-matter development disorders may benefit from future translation of these findings.
✕Less likely to help
Healthy individuals without THAP1-related conditions may not directly benefit from this basic developmental study.
What this research studies
This project focuses on how THAP1 in oligodendrocyte progenitor cells affects the brain’s extracellular matrix and myelination as the CNS develops. Researchers will map THAP1 binding sites and gene activity to see how THAP1 and YY1 control ECM components that influence nerve fiber insulation. The work uses human-relevant cell systems to study developmental processes critical for healthy brain function. Findings could reveal targets to support brain development in conditions where THAP1 is mutated.
Why it matters
Potential benefit: Understanding THAP1’s role could identify new ways to support healthy brain development and myelination in people with THAP1-related dystonia or related disorders.
How similar studies have gone: Prior work linked THAP1 to developmental myelination, suggesting this approach could yield meaningful insights rather than being purely exploratory.
Where this research is happening
-
Case Western Reserve University
Cleveland, United States Active
Researchers
- Principal investigator: Yellajoshyula, Dhananjay — Case Western Reserve University
- Study coordinator: Yellajoshyula, Dhananjay
Related research
Other NIH-funded projects on the same topics.
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Leukocyte RNA biomarkers to help diagnose and monitor dystonia
A small study will look for RNA signatures in blood that could help diagnose and track dystonia in people who have the condition.
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How a dystonia-linked protein affects brain support cells and myelin
This project looks at how the THAP1 protein linked to DYT6 dystonia changes the behavior of brain support cells and the surrounding matrix, which could affect myelination in adults with DYT-THAP1.
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Intrathecal baclofen for children with dystonia due to brain injury
A physician-led study at Baylor College of Medicine will help determine how ITB therapy affects daily life, comfort, and mobility for children with dystonia and related condition after brain injury.
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DYT1 Dystonia: Mouse Models to Understand TorsinA and Brain Circuits
A researcher-led project uses mouse models to explore how a genetic change in DYT1 dystonia affects brain circuits and movement.
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Dystonia-specific brain signaling pattern in cerebellum
Aims to identify a characteristic pattern of nerve cell activity in the cerebellum that is linked to dystonia, with studies in mice and potential implications for people with the condition.
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Progressive resistance exercise for cervical dystonia and brain changes
A study will test whether adding progressive resistance exercise to standard care helps people with focal cervical dystonia and explores how the brain adapts.
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.