Neurobiology of Disease, 2015 Ataxin-3 is a deubiquitinase and polyglutamine (polyQ) disease protein with a protective role in Drosophila melanogaster models of neurodegeneration. In the fruit fly, wild-type ataxin-3 suppresses toxicity from several polyQ disease proteins, including ...
Wei-Ling Tsou +6 more
doaj +1 more source
A case of Machado-Joseph disease presenting with spastic paraparesis. [PDF]
, 1997 Atsushi Kaneko +9 more
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Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: Dentatorubral‐pallidoluysian atrophy, machado‐joseph disease, and spinocerebellar ataxia type 1 [PDF]
, 1997 Hideji Hashida +4 more
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Machado-Joseph Disease, A Case Report of Treatment Based on Phototherapy
Caucasian Medical JournalMachado-Joseph disease (MJD) is a rare autosomal dominant disease caused by a mutation in exon 10 of the ATXN3 gene resulting from a cytosine-adenine-guanine trinucleotide repeat. A case of a 48-year-old man with MJD is reported. His father, two paternal
Hugo Mendieta Zerón +3 more
doaj +1 more source
Overexpression of the autophagic beclin-1 protein clears mutant ataxin-3 and alleviates Machado–Joseph disease [PDF]
, 2011 Isabel Nascimento-Ferreira +10 more
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Mitochondrial Dysfunction and Decreased Cytochrome c in Cell and Animal Models of Machado-Joseph Disease. [PDF]
Cells, 2023 Almeida F +8 more
europepmc +1 more source
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage. [PDF]
Hum Genet, 2023 Martins S +15 more
europepmc +1 more source
Abstracts of the 18th SCWD Conference, 11‐13 December 2025 in Rome/Italy
JCSM Communications, Volume 9, Issue 1, January/June 2026.
wiley +1 more source
Comparison of expanded CAG repeat tracts in sperm and lymphocyte DNA from Machado Joseph disease and spinocerebellar ataxia type I patients [PDF]
, 1998 Debra J. Maurer +4 more
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