How changes in RNA splicing affect 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's important for nerve cell activity, which could help us understand how problems with this process might be linked to 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-10579415 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 process. Understanding these mechanisms could provide insights into how disruptions in splicing contribute to conditions like spinocerebellar ataxia, epilepsy, and autism spectrum disorders. The research employs advanced techniques to analyze splicing events and their effects on neuronal function.
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 therapeutic strategies for treating neurological disorders linked to calcium channel dysfunction.
How similar studies have performed: Previous research has shown promising results in understanding the role of alternative splicing in neuronal function, 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.