Understanding how a protein called SMN works in Spinal Muscular Atrophy
DMA-Tudor interaction modules: a novel approach to Survival Motor Neuron protein (SMN) and Cajal body function
['FUNDING_R01'] · YALE UNIVERSITY · NIH-11118876
This research explores how a specific protein, SMN, interacts with other molecules to understand why motor neurons are lost in Spinal Muscular Atrophy, a serious genetic condition.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | YALE UNIVERSITY (nih funded) |
| Locations | 1 site (NEW HAVEN, UNITED STATES) |
| Trial ID | NIH-11118876 on ClinicalTrials.gov |
What this research studies
Spinal Muscular Atrophy (SMA) is a severe genetic disease that causes the loss of motor neurons, leading to muscle weakness and is a leading cause of infant mortality. We know that problems with the Survival Motor Neuron (SMN) protein cause SMA, but the exact reasons for motor neuron loss are still unclear. Our team recently found a new way SMN works, by forming special clusters with other molecules that have a specific chemical tag called dimethylarginine (DMA). This project aims to discover which specific DMA-tagged molecules interact with SMN and how these interactions affect cell organization, especially in the nervous system, which is particularly vulnerable in SMA.
Who could benefit from this research
Good fit: This foundational research is for patients and families affected by Spinal Muscular Atrophy (SMA) who are interested in the basic science behind their condition.
Not a fit: Patients seeking immediate new treatments or direct clinical intervention would not directly benefit from this basic science project.
Why it matters
Potential benefit: If successful, this work could uncover new targets for therapies that might prevent or slow down motor neuron loss in patients with Spinal Muscular Atrophy.
How similar studies have performed: This project builds on recent discoveries about SMN's novel activities and biomolecular condensation, representing a new direction in understanding SMA.
Where this research is happening
NEW HAVEN, UNITED STATES
- YALE UNIVERSITY — NEW HAVEN, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: NEUGEBAUER, KARLA M — YALE UNIVERSITY
- Study coordinator: NEUGEBAUER, KARLA M
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.
Conditions: Aran-Duchenne disease