Understanding how NPC1 protein functions in human brain cells
Official title: Investigating mechanisms of NPC1 proteostasis in human neurons
Funded at University of Michigan at Ann Arbor · NIH-10998266 · Data updated 2026-11-12
This study is looking at how changes in the NPC1 protein affect brain cells in people with Niemann-Pick disease type C, with the hope of finding new ways to help treat this condition by understanding how cholesterol is moved in cells.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project start | July 1, 2024 |
| Project end | June 30, 2026 |
| Funding year | 2024 |
| Award (this year) | $41,925 |
| NIH project number | 1F31NS135634-01A1 |
| Project ID | NIH-10998266 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Niemann-Pick disease type C, particularly those with mutations in the NPC1 gene.
✕Less likely to help
Patients with other forms of Niemann-Pick disease or those without NPC1 mutations may not benefit from this research.
What this research studies
This research investigates the mechanisms behind the NPC1 protein's stability and function in human neurons, particularly in the context of Niemann-Pick disease type C, a genetic disorder that leads to severe neurological issues. The study focuses on how mutations in the NPC1 gene affect the protein's ability to transport cholesterol within cells, which is crucial for maintaining cellular health. By using advanced techniques like CRISPR, the researchers aim to identify the factors that influence NPC1's proper folding and trafficking, which could lead to new therapeutic strategies for patients. The findings could provide insights into whether treatments that work in skin cells can also be effective in brain cells, which are significantly impacted in this disease.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve neurological function in patients with Niemann-Pick disease type C.
How similar studies have gone: Previous research has shown promise in targeting NPC1 protein homeostasis in fibroblasts, but this approach in neurons is relatively novel and untested.
Where this research is happening
-
University of Michigan at Ann Arbor
Ann Arbor, United States Active
Researchers
- Principal investigator: Azaria, Ruth D. — University of Michigan at Ann Arbor
- Study coordinator: Azaria, Ruth D.
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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.