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Article

Unravelling Endogenous MicroRNA System Dysfunction as a New Pathophysiological Mechanism in Machado-Joseph Disease.

Molecular therapy : the journal of the American Society of Gene Therapy - 5 Apr 2017

Carmona Vitor, Cunha-Santos Janete, Onofre Isabel, Simões Ana Teresa, Vijayakumar Udaya, Davidson Beverly L, Pereira de Almeida Luís

Abstract excerpt

Machado-Joseph disease (MJD) is a genetic neurodegenerative disease caused by an expanded polyglutamine tract within the protein ataxin-3 (ATXN3). Despite current efforts, MJD's mechanism of pathogenesis remains unclear and no disease-modifying treatment is available. Therefore, in this study, we investigated (1) the role of the 3' UTR of ATXN3, a putative microRNA (miRNA) target, (2) whether miRNA biogenesis and...

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Identifiers

PMID: 28236575
DOI: 10.1016/j.ymthe.2017.01.021
PMCID: PMC5383579

Genes

ATXN3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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