Understanding the Sialin transporter and its role in disease
Official title: Mechanistic studies of human transporter Sialin
Funded at University of Colorado Denver · NIH-11009041 · Data updated 2026-11-12
This study is looking into how certain genetic changes in a protein called Sialin cause a condition that leads to the buildup of sialic acid, and it's for people who have this condition and want to know more about potential new treatments that could help improve their health.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Colorado Denver NIH-funded |
| Lab location | 1 site (Aurora, UNITED STATES) |
| Project start | February 1, 2024 |
| Project end | January 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $550,348 |
| NIH project number | 5R01HL168686-02 |
| Project ID | NIH-11009041 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with free sialic acid storage disorder or those with related cardiovascular issues linked to Sialin mutations.
✕Less likely to help
Patients without Sialin mutations or those not affected by free sialic acid storage disorder may not benefit from this research.
What this research studies
This research investigates the genetic mutations in the Sialin transporter that lead to free sialic acid storage disorder, a condition that currently has no cure. The project aims to understand how Sialin functions at a molecular level and its connection to cardiovascular diseases. By using advanced techniques like biochemical assays and cryo-electron microscopy, researchers will explore how to restore the function of dysfunctional Sialin. Ultimately, the goal is to identify small molecules that can help correct the transport issues caused by these mutations, potentially leading to new treatments for affected patients.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic options for patients with Sialin mutations, improving their health outcomes.
How similar studies have gone: While the specific approach of rescuing Sialin function is innovative, similar strategies in targeting other genetic disorders have shown promise in previous research.
Where this research is happening
-
University of Colorado Denver
Aurora, United States Active
Researchers
- Principal investigator: Zheng, Hongjin — University of Colorado Denver
- Study coordinator: Zheng, Hongjin
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.