Understanding how UBE3A gene mutations affect brain proteins in Angelman Syndrome
Profiling cell type-specific ubiquitome in UBE3A mutant mice
['FUNDING_R21'] · UNIVERSITY OF WISCONSIN-MADISON · NIH-11119613
This study is looking at how a gene called UBE3A affects brain development in people with Angelman Syndrome, using special mice to find out which proteins are impacted by this gene at different stages of growth, with the hope of discovering new ways to treat the condition.
Quick facts
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF WISCONSIN-MADISON (nih funded) |
| Locations | 1 site (MADISON, UNITED STATES) |
| Trial ID | NIH-11119613 on ClinicalTrials.gov |
What this research studies
This research investigates the role of the UBE3A gene in Angelman Syndrome, a severe neurodevelopmental disorder. By studying UBE3A mutant mice, the researchers aim to identify specific proteins that are affected by this gene mutation in different brain cell types and at various developmental stages. The approach involves analyzing how UBE3A influences protein ubiquitination, which is a process that regulates protein function and degradation. This could provide insights into the molecular mechanisms underlying Angelman Syndrome and help in developing targeted therapies.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Angelman Syndrome or those carrying UBE3A mutations.
Not a fit: Patients without Angelman Syndrome or UBE3A mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments or interventions for individuals with Angelman Syndrome.
How similar studies have performed: While the specific approach of profiling the ubiquitome in UBE3A mutant mice is novel, similar studies have shown promise in understanding genetic disorders and their molecular mechanisms.
Where this research is happening
MADISON, UNITED STATES
- UNIVERSITY OF WISCONSIN-MADISON — MADISON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: GAO, YU — UNIVERSITY OF WISCONSIN-MADISON
- Study coordinator: GAO, YU
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.