Article

Allele-specific expression of <i>ATXN3</i> in blood samples of Machado-Joseph disease expansion carriers

2026-01-29

Abstract excerpt

<h4>ABSTRACT</h4> Although the CAG repeat expansion in the ATXN3 gene was identified over 30 years ago as the cause of Machado-Joseph disease (MJD), the disorder remains untreatable. Notably, MJD is the most prevalent hereditary spinocerebellar ataxia worldwide and is particularly frequent in the Azores Islands (Portugal). This results from two independent founder effects, with two major ancestral lineages – “Jo...

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Literature Corpus work: f02a5747-5922-5324-bec7-51c580ea0ad8
DOI: 10.64898/2026.01.26.26344891

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