Article
Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2.
Proceedings of the National Academy of Sciences of the United States of America - 25 Jan 2022
Kanagaraj Radhakrishnan, Mitter Richard, Kantidakis Theodoros, Edwards Matthew M, Benitez Anaid, Chakravarty Probir, Fu Beiyuan, Becherel Olivier, Yang Fengtang, Lavin Martin F, Koren Amnon, Stewart Aengus, West Stephen C
Abstract excerpt
Mutations in the SETX gene, which encodes Senataxin, are associated with the progressive neurodegenerative diseases ataxia with oculomotor apraxia 2 (AOA2) and amyotrophic lateral sclerosis 4 (ALS4). To identify the causal defect in AOA2, patient-derived cells and SETX knockouts (human and mouse) were analyzed using integrated genomic and transcriptomic approaches. A genome-wide increase in chromosome instability...
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