How body‑sensing nerves affect walking in Angelman syndrome
Official title: The Role of Sensory Receptors in Angelman Syndrome
Funded at University of Texas Hlth Sci Ctr Houston · NIH-11284016 · Data updated 2026-11-12
This project looks at whether problems with a nerve sensor called PIEZO2 cause balance and walking problems in people with Angelman syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Texas Hlth Sci Ctr Houston NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project start | February 15, 2023 |
| Project end | January 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $481,486 |
| NIH project number | 5R01NS131184-04 |
| Project ID | NIH-11284016 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with Angelman syndrome who have balance issues or abnormal gait would be the most relevant candidates for related clinical follow-up or future trials.
✕Less likely to help
People with Angelman syndrome who do not have gait or proprioceptive problems, or whose symptoms are driven mainly by seizures or other unrelated issues, may not benefit directly.
What this research studies
Researchers will use mouse models that mimic Angelman syndrome and examine the sensory neurons that sense limb position and movement. They will measure gait and balance with behavioral tests and record nerve activity to see how PIEZO2 functions. The team will alter PIEZO2 levels in sensory neurons and use imaging and molecular tools to see how those changes affect walking. Results will be related to human genetic evidence to connect the lab findings to people with Angelman syndrome.
Why it matters
Potential benefit: If successful, this work could point to new treatment targets to improve balance and walking in people with Angelman syndrome.
How similar studies have gone: Loss of PIEZO2 is already linked to proprioception and gait problems in humans and mice, but applying that knowledge specifically to Angelman syndrome is a novel approach.
Where this research is happening
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University of Texas Hlth Sci Ctr Houston
Houston, United States Active
Researchers
- Principal investigator: Cordero-Morales, Julio Francisco — University of Texas Hlth Sci Ctr Houston
- Study coordinator: Cordero-Morales, Julio Francisco
Related research
Other NIH-funded projects on the same topics.
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Genome editor therapy for Angelman syndrome in young children
A University of North Carolina team is exploring a gene-editing approach to turn on the silent UBE3A gene in people with Angelman syndrome to reduce symptoms.
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MicroRNA pathways in Angelman Syndrome: novel targets for therapy
A small study explores how specific microRNAs may influence Angelman syndrome and whether targeting them could lead to new treatments.
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Delta brain rhythms in Angelman syndrome
Scientists will study unusual brain wave patterns in Angelman syndrome to understand how these signals relate to behavior and guide future treatments for affected children and adults.
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Targeting the stress response in Angelman syndrome
Aims to understand how loss of a brain gene called UBE3A disrupts pathways in Angelman syndrome and to design therapies that calm the stress response in affected neurons.
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Small molecule therapy to turn on the paternal UBE3A gene in Angelman syndrome
A small molecule drug is being developed to turn on the paternal UBE3A gene in Angelman syndrome, with the goal of improving brain function.
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UBE3A mosaicism and Angelman syndrome phenotypes
A study from UNC Chapel Hill will explore how the mix of neurons with active paternal UBE3A affects Angelman syndrome symptoms using a special mouse model and gene therapy tools.
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.