Integrated Genome and Transcriptome Analyses Reveal the Mechanism of Genome Instability in Ataxia with Oculomotor Apraxia 2
Radhakrishnan Kanagaraj, Richard Mitter, Theodoros Kantidakis, Matthew M. Edwards, Anaid Benitez, Probir Chakravarty, Beiyuan Fu, Olivier J. Bécherel, Fengtang Yang, Martin Francis Lavin, Amnon Koren, Aengus Stewart, Stephen Craig West
The paper identifies how SETX mutations cause genome instability in AOA2 by increasing transcription stress and impairing repair mechanisms.
Proceedings of the National Academy of Sciences · Jan 18, 2022Peer-reviewedMolecular Biology