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Article

Toward understanding Machado-Joseph disease.

Progress in neurobiology - 1 May 2012

Costa Maria do Carmo, Paulson Henry L

Abstract excerpt

Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is the most common inherited spinocerebellar ataxia and one of many polyglutamine neurodegenerative diseases. In MJD, a CAG repeat expansion encodes an abnormally long polyglutamine (polyQ) tract in the disease protein, ATXN3. Here we review MJD, focusing primarily on the function and dysfunction of ATXN3 and on advances toward...

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Identifiers

PMID: 22133674
DOI: 10.1016/j.pneurobio.2011.11.006
PMCID: PMC3306771

Genes

ATXN3
VCP

Provenance

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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