How the autism-linked gene ANK2 works at brain synapses
Elucidating the synaptic interactome of the high risk autism gene ANK2
This project looks at how different forms of the autism-linked gene ANK2 interact with proteins at neuron connections to better understand autism.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11235882 on NIH RePORTER |
What this research studies
Researchers will use specially engineered mice that carry tagged versions of the ANK2 protein to label nearby proteins at the postsynapse and then identify those partners with mass spectrometry. They will validate important interactions using live and super-resolution microscopy and cellular assays. The team will compare the two main neuronal ANK2 isoforms and use isoform-specific knockout mice to see which partners depend on each form. Finally, they will test how novel ANK2-containing postsynaptic complexes affect synaptic function that could relate to autism biology.
Who could benefit from this research
Good fit: People with autism spectrum disorder, especially those known to carry ANK2 gene variants, are the most directly relevant to this research.
Not a fit: Individuals without ANK2-related genetic changes or those seeking immediate clinical treatment are unlikely to receive direct benefit from this basic laboratory research.
Why it matters
Potential benefit: This could reveal molecular pathways behind ANK2-related autism that point to future diagnostic markers or targets for therapy.
How similar studies have performed: Previous work has linked ANK2 to neuronal and axonal roles, but mapping its postsynaptic partners at isoform resolution using proximity labeling is a relatively new and more detailed approach.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Lorenzo, Damaris N — University of Pennsylvania
- Study coordinator: Lorenzo, Damaris N
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.