Large-scale expansions and replication stalling of Friedreich's ataxia GAA repeats in an experimental mammalian system
Anastasia Rastokina, Jorge Cebrián, Negin Mozafari, Nicholas H Mandel, C I Edvard Smith, Massimo Lopes, Rula Zain, Sergei M. Mirkin
This study develops an experimental system to analyze GAA repeat expansions and replication fork stalling in human cells, finding that repeat expansions depend on proteins involved in replication fork stalling and restart.
Nucleic Acids Research · May 22, 2023Peer-reviewedGenetics