Cell BiologybioRxivPreprint
Gain-of-function mutations amplify cytotoxic FAM111 protease activity in human genetic disorders
S. Hoffmann, S. Pentakota, A. Mund…·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.
DOI 10.1101/2020.03.16.993600