Article
Genetic Variation in ATXN3 (Ataxin-3) 3'UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3.
Cerebellum (London, England) - 1 Feb 2023
Melo Ana Rosa Vieira, Raposo Mafalda, Ventura Marta, Martins Sandra, Pavão Sara, Alonso Isabel, Bettencourt Conceição, Lima Manuela
Abstract excerpt
Untranslated regions are involved in the regulation of transcriptional and post-transcriptional processes. Characterization of these regions remains poorly explored for ATXN3, the causative gene of Machado-Joseph disease (MJD). Although a few genetic modifiers have been identified for MJD age at onset (AO), they only explain a small fraction of the AO variance. Our aim was to analyse variation at the 3'UTR of...
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