C9orf72 expansion creates the unstable folate-sensitive fragile site FRA9A
Mila Mirceta, Monika H.M. Schmidt, Natalie Shum, Tanya K. Prasolava, Bryanna Meikle, Stella Lanni, Mohiuddin Mohiuddin, Paul M. McKeever, Ming Zhang, Minggao Liang, Ilse van der Werf, Stefaan Scheers, Patrick A. Dion, Peixiang Wang, Michael D. Wilson, , Christopher E. Pearson
This paper shows C9orf72 expansions create a folate-sensitive fragile site FRA9A, leading to chromosomal instability and immune responses in patient cells and mice.
bioRxiv · Oct 26, 2024 · PreprintGenetics