Publications by authors named "Kristina E Fittipaldi"
Nucleic Acids Res
June 2024
Article Synopsis
- The study explores the link between a repeated genetic sequence (G4C2) in the C9orf72 gene and conditions like familial ALS and FTD.
- Researchers created a new mouse model with 96 copies of the G4C2 repeat to better understand how these repeats can become unstable over generations.
- Two main mechanisms were identified for repeat expansion: minor increases due to a mismatch repair pathway and larger expansions triggered by DNA breaks, with implications for understanding the genetic instability seen in human cases.
