Investigating how UBE3A gene mutations affect brain development and behavior
UBE3A gain-of-function and parent-of-origin influence on neurodevelopmental phenotypes
This study is looking at how changes in the UBE3A gene might affect brain development and the risk of autism, using mice to see how these changes impact brain structure and behavior depending on whether the gene change comes from the mother or father.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of North Carolina Chapel Hill NIH-funded |
| Lab location | 1 site (Chapel Hill, United States) |
| Project ID | NIH-10645010 on NIH RePORTER |
What this research studies
This research explores the role of the UBE3A gene in brain development and its connection to autism risk. It focuses on how mutations that increase UBE3A activity can impact neurodevelopmental outcomes. By using a mouse model that mimics a specific human mutation, researchers will assess changes in brain structure and behavior based on whether the mutation is inherited from the mother or father. This approach aims to uncover the mechanisms by which UBE3A influences brain growth and function during critical developmental periods.
Who could benefit from this research
Good fit: Ideal candidates for participation or benefit from this research include individuals with autism or related neurodevelopmental disorders linked to UBE3A mutations.
Not a fit: Patients without UBE3A mutations or those not affected by neurodevelopmental disorders may not receive any benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential interventions for neurodevelopmental disorders like autism.
How similar studies have performed: Previous research has shown promising results in understanding the role of UBE3A in neurodevelopment, indicating that this approach has potential for significant insights.
Where this research is happening
Chapel Hill, United States
- Univ of North Carolina Chapel Hill — Chapel Hill, United States (Active)
Researchers
- Principal investigator: Zylka, Mark J. — Univ of North Carolina Chapel Hill
- Study coordinator: Zylka, Mark J.
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.