How a protein complex regulates gene expression and cellular functions
Post-transcriptional gene regulation by the exon junction complex
['FUNDING_OTHER'] · OHIO STATE UNIVERSITY · NIH-11057508
This study is looking at how a special protein complex helps control gene activity in our cells, which is important for development and can affect conditions like autism and intellectual disabilities, and it's for anyone interested in understanding how our genes work.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | OHIO STATE UNIVERSITY (nih funded) |
| Locations | 1 site (Columbus, UNITED STATES) |
| Trial ID | NIH-11057508 on ClinicalTrials.gov |
What this research studies
This research investigates the role of the exon junction complex (EJC) in regulating gene expression through a process called Nonsense-Mediated mRNA Decay (NMD). By studying how EJC interacts with mRNA in human cells and zebrafish embryos, the researchers aim to uncover mechanisms that control cellular functions and responses, particularly in relation to developmental processes and diseases. The study employs a variety of techniques, including genetic and biochemical methods, to explore how disruptions in this regulation can lead to conditions like autism and intellectual disabilities.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with genetic mutations linked to developmental disorders, particularly those related to autism spectrum disorder.
Not a fit: Patients without genetic mutations affecting gene regulation or those with unrelated conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new insights and therapeutic strategies for conditions associated with gene regulation disorders, such as autism spectrum disorder.
How similar studies have performed: Previous research has shown that understanding mRNA surveillance pathways can lead to significant advancements in treating genetic disorders, indicating a promising avenue for this study.
Where this research is happening
Columbus, UNITED STATES
- OHIO STATE UNIVERSITY — Columbus, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SINGH, GURAMRIT — OHIO STATE UNIVERSITY
- Study coordinator: SINGH, GURAMRIT
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.
Conditions: autism spectral disorder, autism spectrum disorder, Autistic Disorder, autistic spectrum disorder