Article

Integrated Genome and Transcriptome Analyses Reveal the Mechanism of Genome Instability in Ataxia with Oculomotor Apraxia 2

2021-05-08

Abstract excerpt

<h4>ABSTRACT</h4> 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. We observed a genome-wide in...

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Literature Corpus work: 6f425a45-c73a-5cbe-b065-f0b452935fe1
DOI: 10.1101/2021.05.07.443085

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