TAOK1 enzyme and its role in autism and brain development
Kinase Dysfunction in Autism and Neurodevelopmental Disorders
This project is looking at whether problems in a brain enzyme called TAOK1 change nerve cell shape and function in people with autism and related developmental delays.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project ID | NIH-11299039 on NIH RePORTER |
What this research studies
Researchers will use cells made from people (patient-derived stem cells) and lab models to see how TAOK1 mutations affect neuron membranes and shape. They will combine protein-mapping (proteomics), chemical-genetic tools, structural biology, and 3D cellular models to understand how TAOK1 binds membrane lipids and remodels neurons. The team will study both inherited and new TAOK1 mutations found in people with autism, macrocephaly, and developmental delay to link specific mutations to changes in neuronal form and activity. The goal is to reveal molecular steps that could point toward future diagnostics or treatments.
Who could benefit from this research
Good fit: Ideal candidates include people with autism spectrum disorder or developmental delay who have known TAOK1 mutations, or individuals willing to donate cells or biological samples for stem-cell modeling.
Not a fit: People whose autism or developmental differences are not related to TAOK1 genetic changes are unlikely to receive direct benefit from this specific project.
Why it matters
Potential benefit: If successful, this work could identify specific molecular pathways tied to TAOK1 that might become targets for new therapies or diagnostic tests for TAOK1-related autism.
How similar studies have performed: Approaches using patient-derived stem cells and proteomics have uncovered disease mechanisms for other neurodevelopmental conditions, but focused TAOK1 research is relatively new.
Where this research is happening
Seattle, United States
- University of Washington — Seattle, United States (Active)
Researchers
- Principal investigator: Yadav, Smita — University of Washington
- Study coordinator: Yadav, Smita
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.