Nebulin's role in skeletal muscle and nemaline myopathy
Roles of Nebulin in Structure and Function of Striated Muscle
This project looks at how the huge muscle protein nebulin works and how its faults lead to nemaline myopathy, to help people with this congenital muscle weakness.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Arizona NIH-funded |
| Lab location | 1 site (Tucson, United States) |
| Project ID | NIH-11146556 on NIH RePORTER |
What this research studies
The team studies nebulin using mouse models that mimic severe and milder forms of nemaline myopathy and by analyzing genes and proteins from muscle. They apply super-resolution imaging, low-angle X-ray diffraction, transcriptomics, proteomics, and muscle biomechanics to study nebulin from the single-molecule level up to intact muscles. A key aim is to understand how nebulin and partners like leiomodin-2 set thin filament lengths and affect muscle force, which could point to ways to correct defects.
Who could benefit from this research
Good fit: Ideal candidates would be people with nemaline myopathy, especially those with confirmed or suspected nebulin mutations, who are willing to contribute samples or participate in related studies.
Not a fit: People with unrelated neuromuscular conditions or myopathies not caused by nebulin mutations may not directly benefit from this work.
Why it matters
Potential benefit: If successful, this work could reveal mechanisms and targets that lead to new treatments to improve strength and function for people with nemaline myopathy.
How similar studies have performed: Prior genetic and basic studies have shown nebulin mutations cause nemaline myopathy and clarified some functions, but translating those findings into therapies is still largely unproven.
Where this research is happening
Tucson, United States
- University of Arizona — Tucson, United States (Active)
Researchers
- Principal investigator: Granzier, Henk L. — University of Arizona
- Study coordinator: Granzier, Henk L.
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.