Results 71 to 80 of about 4,410 (162)

The deubiquitinase ataxin-3 requires Rad23 and DnaJ-1 for its neuroprotective role in Drosophila melanogaster

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, Michelle Ouyang, Ryan R. Hosking, Joanna R. Sutton, Jessica R. Blount, Aaron A. Burr, Sokol V. Todi   +6 more
doaj   +1 more source

Machado-Joseph Disease, A Case Report of Treatment Based on Phototherapy

Caucasian Medical Journal
Machado-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, David Emmanuel González Mendoza, Pamela Lagos Robles, Miriam Deyanira Rodriguez Piña   +3 more
doaj   +1 more source

Mitochondrial Dysfunction and Decreased Cytochrome c in Cell and Animal Models of Machado-Joseph Disease. [PDF]

Cells, 2023
Almeida F, Ferreira IL, Ferreira IL, Naia L, Marinho D, Vilaça-Ferreira AC, Costa MD, Duarte-Silva S, Maciel P, Rego AC.   +9 more
europepmc   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +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, Yahia A, Costa IPD, Siddig HE, Abubaker R, Koko M, Corral-Juan M, Matilla-Dueñas A, Brice A, Durr A, Leguern E, Ranum LPW, Amorim A, Elsayed LEO, Stevanin G, Sequeiros J.   +15 more
europepmc   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Microglial Depletion Has No Impact on Disease Progression in a Mouse Model of Machado-Joseph Disease. [PDF]

Cells, 2022
Campos AB, Duarte-Silva S, Fernandes B, Coimbra B, Campos J, Monteiro-Fernandes D, Teixeira-Castro A, Ambrósio AF, Maciel P.   +8 more
europepmc   +1 more source

A cost analysis of Machado-Joseph’s disease (MJD)

PLOS ONE
A rare disease is that with a low prevalence in the population. However, it is estimated that there are between 6,000 and 8,000 different types of rare diseases in the world and, generally, they are incurable and deadly. Machado-Joseph’s disease (MJD) is one of these cases; of genetic origin, autosomal dominant, with a high chance of transmission ...
Cristiane da Silva, Marco Tulio Aniceto França, Giácomo Balbinotto Neto   +2 more
openaire   +3 more sources

Extracellular vesicle-based delivery of silencing sequences for the treatment of Machado-Joseph disease/spinocerebellar ataxia type 3. [PDF]

Mol Ther, 2023
Rufino-Ramos D, Albuquerque PR, Leandro K, Carmona V, Martins IM, Fernandes R, Henriques C, Lobo D, Faro R, Perfeito R, Mendonça LS, Pereira D, Gomes CM, Nobre RJ, Pereira de Almeida L.   +14 more
europepmc   +1 more source