How a specific protein is regulated in the brain and its link to autism
Regulation of Topoisomerase 2 Beta by phosphorylation at the C-Terminal domain
This study is looking at a protein in the brain called Topoisomerase 2 Beta (Top2B) to see how it works when brain cells are active, especially in relation to changes that might be linked to autism and developmental delays, using animal models to help us understand its role better.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project ID | NIH-11052630 on NIH RePORTER |
What this research studies
This research investigates the role of a protein called Topoisomerase 2 Beta (Top2B) in the brain, particularly how it is regulated by phosphorylation in response to neuronal activity. The study focuses on understanding how mutations in Top2B are associated with neurodevelopmental delays and autism. By examining the mechanisms that control Top2B's function, the research aims to uncover how it influences gene expression in neurons, which could have implications for understanding autism spectrum disorders. The approach involves using animal models to study the effects of neuronal stimulation on Top2B regulation.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with autism spectrum disorder or neurodevelopmental delays linked to Top2B mutations.
Not a fit: Patients without autism spectrum disorder or related neurodevelopmental conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new insights into the biological mechanisms underlying autism, potentially informing future treatments or interventions.
How similar studies have performed: While the specific regulatory mechanisms of Top2B are being explored in this research, similar studies have shown promising results in understanding the role of topoisomerases in neurodevelopmental disorders.
Where this research is happening
Dallas, United States
- Ut Southwestern Medical Center — Dallas, United States (Active)
Researchers
- Principal investigator: Delint Ramirez, Ilse — Ut Southwestern Medical Center
- Study coordinator: Delint Ramirez, Ilse
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.