Gain-of-function mutations amplify cytotoxic FAM111 protease activity in human genetic disorders
S. Hoffmann, S. Pentakota, A. Mund, P. Haahr, F. Coscia, M. Gallo, M. Mann, N. M. I. Taylor, N. Mailand
The paper shows that gain-of-function mutations in FAM111A and FAM111B enhance protease activity, leading to DNA replication and transcription suppression and cell death, contributing to genetic disorders.
bioRxiv · Mar 16, 2020 · PreprintCell Biology