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Article

Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3).

Cerebellum (London, England) - 1 Dec 2012

Bettencourt Conceição, Raposo Mafalda, Kazachkova Nadiya, Santos Cristina, Kay Teresa, Vasconcelos João, Maciel Patrícia, Donis Karina C, Saraiva-Pereira Maria Luiza, Jardim Laura B, Sequeiros Jorge, Bruges-Armas Jácome, Lima Manuela

Abstract excerpt

Machado-Joseph disease (MJD) is a late-onset autosomal dominant neurodegenerative disorder, which is caused by a coding (CAG)(n) expansion in the ATXN3 gene (14q32.1). The number of CAG repeats in the expanded alleles accounts only for 50 to 75 % of onset variance, the remaining variation being dependent on other factors. Differential allelic expression of ATXN3 could contribute to the explanation of different...

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Identifiers

PMID: 22422287
DOI: 10.1007/s12311-012-0373-7

Genes

ATXN3

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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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Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3).PMID 22422287Read ↗

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The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls.Semantic proximity Read ↗

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.Semantic proximity Read ↗

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph diseaseSemantic proximity Read ↗

Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado–Joseph DiseaseSemantic proximity Read ↗

Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients.Semantic proximity Read ↗

Allele-specific expression of <i>ATXN3</i> in blood samples of Machado-Joseph disease expansion carriersSemantic proximity Read ↗

Transcript diversity of Machado-Joseph disease gene (ATXN3) is not directly determined by SNPs in exonic or flanking intronic regions.Semantic proximity Read ↗

The role of apolipoprotein E as a risk factor for an earlier age at onset for Machado-Joseph disease is doubtful.Semantic proximity Read ↗

Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease.Semantic proximity Read ↗

Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing.Semantic proximity Read ↗

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