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Article

Global DNA methylation is not elevated in blood samples from Machado-Joseph disease mutation carriers.

Epigenetics - 1 Dec 2024

Teves Luís, Vieira Melo Ana Rosa, Ferreira Ana F, Raposo Mafalda, Lemos Carolina, Bettencourt Conceição, Lima Manuela

Abstract excerpt

Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar ataxia (SCA) caused by a polyglutamine expansion in the ataxin-3 protein, which initiates a cascade of pathogenic events, including transcriptional dysregulation. Genotype-phenotype correlations in MJD are incomplete, suggesting an influence of additional factors, such as epigenetic modifications, underlying the MJD pathogenesis. DNA...

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Identifiers

PMID: 38900099
DOI: 10.1080/15592294.2024.2368995
PMCID: PMC11195492

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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