Understanding how RNA splicing affects a calcium channel linked to neurological disorders.
Alternative Splicing Modulates the Activity of CaV3.1. an Ion Channel Gene Involved in Spinocerebellar Ataxia, Epilepsy, and Autism Spectrum Disorders
This study is looking at how a process called RNA splicing affects a calcium channel that helps nerve cells work properly, with the hope of finding new ways to help people with conditions like spinocerebellar ataxia, epilepsy, and autism.
Quick facts
| Grant type | R15 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | St. John's University NIH-funded |
| Lab location | 1 site (Queens, United States) |
| Project ID | NIH-10797338 on NIH RePORTER |
What this research studies
This research investigates the role of alternative RNA splicing in the function of the CaV3.1 calcium channel, which is important for nerve cell activity. By examining how specific exons are included or skipped in different types of neurons, the study aims to uncover the molecular mechanisms that regulate this splicing process. The goal is to better understand how these mechanisms contribute to neurological disorders such as spinocerebellar ataxia, epilepsy, and autism spectrum disorders. Patients may benefit from insights that could lead to new therapeutic strategies targeting these conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with spinocerebellar ataxia, epilepsy, or autism spectrum disorders.
Not a fit: Patients with neurological disorders not related to calcium channel dysfunction may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for neurological disorders linked to calcium channel dysfunction.
How similar studies have performed: Other research has shown promising results in understanding the role of RNA splicing in neurological conditions, suggesting that this approach could yield valuable insights.
Where this research is happening
Queens, United States
- St. John's University — Queens, United States (Active)
Researchers
- Principal investigator: Ruggiu, Matteo — St. John's University
- Study coordinator: Ruggiu, Matteo
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.