C9orf72 poly(glycine-alanine) knock-in mice exhibit mild rotarod and proteomic changes consistent with amyotrophic lateral sclerosis/frontotemporal dementia - PubMed
4 hours ago
- #ALS/FTD
- #C9orf72
- #mouse model
- The study created a knock-in mouse model with 400 polyGA repeats inserted into the C9orf72 gene to mimic ALS/FTD pathology.
- PolyGA expression in mice led to mild motor dysfunction, shown by impaired rotarod performance, without severe neuropathology.
- Proteomic analysis indicated protein changes in the spinal cord, aligning with known polyGA interactors, supporting its role in disease.
- This model provides a tool to explore the specific effects of polyGA in C9orf72-related ALS/FTD, complementing existing research.