How the Integrator protein complex affects nerve cell development and disease
Probing the Role of Integrator in Neuronal Function
This project looks at how changes in the Integrator protein complex and its partners affect neurons and people with related neurodevelopmental disorders.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Rochester NIH-funded |
| Lab location | 1 site (Rochester, United States) |
| Project ID | NIH-11141647 on NIH RePORTER |
What this research studies
From a patient's perspective, the team is mapping how the Integrator subunit INTS11 binds partner proteins like BRAT1 and WDR73 and how genetic changes disrupt that interaction. They use biochemical experiments, cryo-electron microscopy to solve protein structures, and cell-based neuron models to see how those disruptions alter RNA processing and neuron function. The project links specific genetic variants to syndromes with seizures, cerebellar ataxia, and developmental delays. The goal is to explain why those symptoms occur and point to molecular targets for future therapies.
Who could benefit from this research
Good fit: People with known genetic variants in INTS11, BRAT1, WDR73, or similar genes linked to early-onset seizures, cerebellar ataxia, or neurodevelopmental delay would be most relevant.
Not a fit: Patients whose neurological problems are not tied to these specific genes or to RNA-processing defects are unlikely to see direct benefit from this project.
Why it matters
Potential benefit: If successful, this could reveal molecular causes of certain genetic brain disorders and suggest targets for future treatments.
How similar studies have performed: Structural biology and genetic studies have previously connected protein complexes and RNA-processing defects to neurodevelopmental disease, but the INTS11 interactions with BRAT1 and WDR73 are newly characterized and a novel focus.
Where this research is happening
Rochester, United States
- University of Rochester — Rochester, United States (Active)
Researchers
- Principal investigator: Wagner, Eric J — University of Rochester
- Study coordinator: Wagner, Eric J
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.