Understanding the effects of mutations in the ATP1A3 gene
Supplement to Clinical, Genetic, and Cellular Consequences of Mutations in Na,K-ATPase ATP1A3
This study is looking into how changes in the ATP1A3 gene affect people with certain neurological disorders, hoping to gather better information to find patterns and risk factors that could lead to new treatments for patients like you.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | State University of New York at Buffalo NIH-funded |
| Lab location | 1 site (Amherst, United States) |
| Project ID | NIH-11261857 on NIH RePORTER |
What this research studies
This research investigates the clinical, genetic, and cellular impacts of mutations in the ATP1A3 gene, which is associated with various neurological disorders. The study aims to restructure and optimize existing data from over a decade of follow-up to enhance the analysis of ATP1A3-related diseases. By creating more efficient analytical datasets, the research seeks to facilitate the discovery of disease patterns and evaluate risk factors linked to these mutations. Patients may benefit from improved understanding and potential new treatment avenues based on the findings.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with known mutations in the ATP1A3 gene or those diagnosed with related neurological conditions.
Not a fit: Patients without ATP1A3 mutations or those not affected by related neurological disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostic tools and treatment strategies for patients with ATP1A3-related disorders.
How similar studies have performed: Previous research on genetic mutations has shown promise in understanding and treating related conditions, indicating that this approach could yield valuable insights.
Where this research is happening
Amherst, United States
- State University of New York at Buffalo — Amherst, United States (Active)
Researchers
- Principal investigator: Brashear, Allison — State University of New York at Buffalo
- Study coordinator: Brashear, Allison
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.