Protein sugar tagging (N-glycosylation) and its link to birth defects
A molecular pathway that links N-glycosylation to birth defects
This research looks at how problems adding sugars to proteins can cause birth defects, aiming to help babies and families affected by these conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project ID | NIH-11313846 on NIH RePORTER |
What this research studies
Researchers at Stanford are tracing a newly found communication pathway inside cells that connects sugar-tagging of proteins in the endoplasmic reticulum to how cells receive WNT signals that guide development. They combine laboratory experiments in cells and models with human genetic data from people with Osteogenesis Imperfecta and Congenital Disorders of Glycosylation to see how this pathway breaks down. By mapping the molecular steps and identifying the key proteins involved, the team hopes to reveal targets for future tests, treatments, or preventive strategies. This work is basic and lab-focused now, so any direct clinical options would follow later if the findings point to actionable fixes.
Who could benefit from this research
Good fit: Families affected by severe forms of Osteogenesis Imperfecta, people with diagnosed Congenital Disorders of Glycosylation, or those with unexplained developmental birth defects could be relevant for related future studies or sample donation.
Not a fit: People whose conditions are unrelated to protein glycosylation or WNT signaling, or those seeking an immediate treatment today, are unlikely to gain direct benefit from this basic lab research.
Why it matters
Potential benefit: If successful, the work could identify new targets to prevent or treat certain inherited bone fragility disorders and other developmental birth defects.
How similar studies have performed: Previous research has linked glycosylation and WNT signaling to development and some disorders, but this specific ER-to-WNT mechanism is newly described and therapeutic benefits remain unproven.
Where this research is happening
Stanford, United States
- Stanford University — Stanford, United States (Active)
Researchers
- Principal investigator: Rohatgi, Rajat — Stanford University
- Study coordinator: Rohatgi, Rajat
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.