GeneticsCell Death and DiseasePeer-reviewed
SCAN1 mutant TDP1 blocks the repair of DSB induced by TOP1 activity during gene transcription and promotes genome reorganisations and cell death in quiescent cells
Diana Rubio-Contreras, Daniel Hidalgo-García, Carmen Angulo-Jiménez…·Fernando Gómez-Herreros
This study shows that the SCAN1 mutation H493R in TDP1 blocks repair of TOP1-induced DSBs in quiescent cells, leading to genome instability and cell death.
DOI 10.1038/s41419-025-08085-y