How the cell's NMD quality‑control system affects early brain stem cells
The Role of NMD in Cortical Neural Progenitor Cells
Researchers are finding out whether faults in a cell's NMD quality‑control system change how early brain stem cells divide and may contribute to neurodevelopmental disorders in children.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California Riverside NIH-funded |
| Lab location | 1 site (Riverside, United States) |
| Project ID | NIH-11235825 on NIH RePORTER |
What this research studies
The team uses mouse models to turn off key NMD genes like UPF2 specifically in brain stem cells to watch how those cells grow and divide. They combine genetic experiments with molecular and sequencing techniques to find which RNAs and pathways are disturbed when NMD doesn't work properly. Early results show that losing UPF2 in neural progenitors can cause smaller brains (microcephaly) and changes in the normal cell cycle and cell development. The goal is to link these basic changes to how some human neurodevelopmental disorders arise.
Who could benefit from this research
Good fit: People or families affected by early-onset neurodevelopmental disorders—especially those with microcephaly, developmental delay, intellectual disability, or known mutations in NMD-related genes (UPF2, UPF3A/B, SMG6)—are most relevant.
Not a fit: Patients with unrelated adult-onset neurological conditions or those without evidence of NMD-related genetic changes are unlikely to directly benefit from this specific lab-based research.
Why it matters
Potential benefit: If successful, this work could explain why some children develop microcephaly or other neurodevelopmental disorders and point to new biological targets for future treatments.
How similar studies have performed: Genetic studies have previously linked mutations in NMD factors to neurodevelopmental disorders, but detailed mechanistic mouse work connecting NMD loss in neural progenitors to microcephaly is relatively new.
Where this research is happening
Riverside, United States
- University of California Riverside — Riverside, United States (Active)
Researchers
- Principal investigator: Zheng, Sika — University of California Riverside
- Study coordinator: Zheng, Sika
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.