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Article

Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of Machado-Joseph disease.

Neuro-degenerative diseases - 1 Jan 2013

Kazachkova Nadiya, Raposo Mafalda, Montiel Rafael, Cymbron Teresa, Bettencourt Conceição, Silva-Fernandes Anabela, Silva Sara, Maciel Patrícia, Lima Manuela

Abstract excerpt

BACKGROUND: Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar ataxia caused by a CAG tract expansions in the ATXN3 gene. Patterns of mitochondrial damage associated with pathological findings of brain tissues could provide molecular biomarkers of this disorder. OBJECTIVE: The potential of mitochondrial DNA (mtDNA) damage as a biomarker of MJD progression was investigated using a transgenic...

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Source

Identifiers

PMID: 22832131
DOI: 10.1159/000339207

Genes

ATXN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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