Molecular BiologyProceedings of the National Academy of SciencesPeer-reviewed
Integrated Genome and Transcriptome Analyses Reveal the Mechanism of Genome Instability in Ataxia with Oculomotor Apraxia 2
Radhakrishnan Kanagaraj, Richard Mitter, Theodoros Kantidakis…·Stephen Craig West
The paper identifies how SETX mutations cause genome instability in AOA2 by increasing transcription stress and impairing repair mechanisms.