Sialin transporter: how it moves sialic acid
Mechanistic studies of human transporter Sialin
Researchers will learn how the Sialin protein moves sialic acid and search for small molecules that can fix Sialin mutations to help people with free sialic acid storage disorder and related heart problems.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Alabama at Birmingham NIH-funded |
| Lab location | 1 site (Birmingham, United States) |
| Project ID | NIH-11374019 on NIH RePORTER |
What this research studies
This project will map how the Sialin protein transports sialic acid using biochemical tests, cryo-electron microscopy, and computer simulations. The team will study Sialin in human cardiac cells and in heart cells made from human induced pluripotent stem cells to see links to heart disease. They will run high-throughput screens to find small molecules that restore function to faulty Sialin proteins and then confirm hits with follow-up lab assays. The work is aimed at turning structural knowledge into candidate drugs that could correct the transporter’s function.
Who could benefit from this research
Good fit: People with free sialic acid storage disorder or known pathogenic Sialin (SLC17A5) mutations, and patients with related cardiac symptoms, would be the most relevant candidates to contribute samples or be contacted for follow-up studies.
Not a fit: Patients without Sialin mutations or with unrelated causes of cardiac disease are unlikely to benefit directly from this specific research.
Why it matters
Potential benefit: If successful, this work could produce drug leads that restore Sialin function and prevent or treat free sialic acid storage disorder and associated cardiac problems.
How similar studies have performed: Related lab-based approaches have rescued other defective transport proteins, but rescuing Sialin with small molecules is largely novel and experimental.
Where this research is happening
Birmingham, United States
- University of Alabama at Birmingham — Birmingham, United States (Active)
Researchers
- Principal investigator: Zheng, Hongjin — University of Alabama at Birmingham
- 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 below.