How PKC gamma mutations cause cerebellar ataxia (SCA14)
Official title: Structural and Molecular Mechanisms for Dysregulation of Protein Kinase C Gamma in Cerebellar Ataxia
Funded at University of California, San Diego · NIH-11297231 · Data updated 2026-11-12
Researchers are working to understand how inherited changes in the brain protein PKC gamma lead to spinocerebellar ataxia type 14 so future treatments can be developed for people with that condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Diego NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project start | May 1, 2021 |
| Project end | March 31, 2031 |
| Funding year | 2026 |
| Award (this year) | $631,158 |
| NIH project number | 2R01NS120725-06 |
| Project ID | NIH-11297231 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with genetically confirmed SCA14 (PKC gamma mutations) or families affected by SCA14 would be most directly connected to this research and may be invited to provide samples or join future clinical efforts.
✕Less likely to help
People with other types of ataxia not caused by PKC gamma mutations, or individuals without a PKC gamma mutation, are unlikely to receive direct benefit from this project in the near term.
What this research studies
This project aims to find out how inherited mutations in PKC gamma damage cerebellar Purkinje cells and cause the balance and coordination problems of SCA14. The team will use structural biology to see how the protein's shape is changed, biochemical and live-cell imaging to measure abnormal activity, and proteomics to map altered protein interactions. They will also use animal models to observe how these molecular changes lead to neuron degeneration and movement problems. Together these approaches will test whether disease comes from inappropriate enzyme activity or from harmful new protein interactions, which will guide therapeutic ideas.
Why it matters
Potential benefit: If successful, the work could identify targets or strategies for drugs that slow or prevent Purkinje cell loss in SCA14.
How similar studies have gone: Previous laboratory studies, including work from this team, have shown SCA14 mutations change PKC gamma's conformation and increase its basal activity, but turning those findings into treatments remains early and experimental.
Where this research is happening
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University of California, San Diego
La Jolla, United States Active
Researchers
- Principal investigator: Newton, Alexandra C. — University of California, San Diego
- Study coordinator: Newton, Alexandra C.
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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.