Understanding how sensory receptors affect movement in Angelman Syndrome
Official title: The Role of Sensory Receptors in Angelman Syndrome
Funded at University of Texas Hlth Sci Ctr Houston · NIH-11030311 · Data updated 2026-11-12
This study is looking at how a specific protein called PIEZO2 affects movement and walking in people with Angelman Syndrome, hoping to find new ways to help improve their motor skills.
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 | 2025 |
| Award (this year) | $433,338 |
| NIH project number | 5R01NS131184-03 |
| Project ID | NIH-11030311 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Angelman Syndrome who experience gait and coordination difficulties.
✕Less likely to help
Patients without a diagnosis of Angelman Syndrome or those whose symptoms are unrelated to sensory receptor function may not benefit from this research.
What this research studies
This research investigates the role of sensory receptors, specifically the PIEZO2 ion channel, in individuals with Angelman Syndrome (AS), a neurogenetic disorder that leads to motor coordination issues and gait deficits. The study aims to uncover the molecular mechanisms behind these gait problems by examining how reduced PIEZO2 function in sensory neurons may contribute to the symptoms experienced by patients. By using mouse models and genetic data, the researchers hope to establish a link between PIEZO2 function and the motor challenges faced by those with AS, potentially paving the way for new therapeutic approaches.
Why it matters
Potential benefit: If successful, this research could lead to new interventions that improve motor coordination and balance for individuals with Angelman Syndrome.
How similar studies have gone: Previous research has shown promising results in understanding sensory receptor functions in related conditions, suggesting that this approach may yield valuable insights.
Where this research is happening
-
University of Texas Hlth Sci Ctr Houston
Houston, United States Active
Researchers
- Principal investigator: Cordero-Morales, Julio F — University of Texas Hlth Sci Ctr Houston
- Study coordinator: Cordero-Morales, Julio F
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.