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Article

Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment.

Scientific reports - 22 Jun 2016

Onofre Isabel, Mendonça Nuno, Lopes Sara, Nobre Rui, de Melo Joana Barbosa, Carreira Isabel Marques, Januário Cristina, Gonçalves António Freire, de Almeida Luis Pereira

Abstract excerpt

Machado Joseph Disease (MJD) is the most frequent autosomal dominantly inherited cerebellar ataxia caused by the over-repetition of a CAG trinucleotide in the ATXN3 gene. This expansion translates into a polyglutamine tract within the ataxin-3 protein that confers a toxic gain-of-function to the mutant protein ataxin-3, contributing to protein misfolding and intracellular accumulation of aggregates and neuronal...

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Source

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Identifiers

PMID: 27328712
DOI: 10.1038/srep28220
PMCID: PMC4916410

Genes

ATXN3

Provenance

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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