Understanding the Effects of ATP1A3 Gene Changes
Clinical, Genetic, and Cellular Consequences of Mutations In NA,K-ATPase ATP1A3
This project aims to better understand how changes in the ATP1A3 gene affect the brain and body in youth and adults.
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-11123904 on NIH RePORTER |
What this research studies
Our team is looking closely at the ATP1A3 gene to understand how its changes lead to various symptoms, including problems with movement, thinking, and mental health. We are gathering information from patients to learn more about their experiences and discover new ways the gene might affect them. We also use laboratory tests to confirm how these gene changes cause problems and to explore if existing medications could help. The goal is to create a full picture of how ATP1A3 conditions progress and to find potential treatments for the future.
Who could benefit from this research
Good fit: Ideal candidates are youth and adults aged 21 and older who have conditions linked to mutations in the ATP1A3 gene, including those with motor, cognitive, or psychological symptoms.
Not a fit: Patients with conditions unrelated to the ATP1A3 gene or those primarily experiencing severe infantile manifestations may not directly benefit from this specific focus.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of ATP1A3-related conditions, helping to develop new treatments and improve the quality of life for affected individuals.
How similar studies have performed: While the specific range of ATP1A3 symptoms in youth and adults is still being mapped, previous research has established the gene's importance, and similar approaches have been used to understand other genetic conditions.
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.