Results 51 to 60 of about 4,240 (105)

Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease

Frontiers in Neurology, 2017
ObjectivesSpinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a polyglutamine disorder with no current disease-modifying treatment. Conformational changes in mutant ataxin-3 trigger different pathogenic cascades, including reactive oxygen ...
Adriano M. de Assis, Adriano M. de Assis, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Aline Longoni, Clarissa Branco Haas, Vitor Rocco Torrez, Andressa Wigner Brochier, Gabriele Nunes Souza, Gabriel Vasata Furtado, Gabriel Vasata Furtado, Tailise Conte Gheno, Tailise Conte Gheno, Aline Russo, Thais Lampert Monte, Thais Lampert Monte, Raphael Machado Castilhos, Artur Schumacher-Schuh, Artur Schumacher-Schuh, Rui D’Avila, Karina Carvalho Donis, Carlos Roberto de Mello Rieder, Carlos Roberto de Mello Rieder, Carlos Roberto de Mello Rieder, Diogo Onofre Souza, Diogo Onofre Souza, Suzi Camey, Suzi Camey, Vanessa Bielefeldt Leotti, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Luis Valmor Portela, Luis Valmor Portela   +39 more
doaj   +1 more source

Vergence and Strabismus in Neurodegenerative Disorders

Frontiers in Neurology, 2018
Maintaining proper eye alignment is necessary to generate a cohesive visual image. This involves the coordination of complex neural networks, which can become impaired by various neurodegenerative diseases.
Sarah L. Kang, Aasef G. Shaikh, Aasef G. Shaikh, Fatema F. Ghasia, Fatema F. Ghasia   +4 more
doaj   +1 more source

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, Naia L, Marinho D, Vilaça-Ferreira AC, Costa MD, Duarte-Silva S, Maciel P, Rego AC.   +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, 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

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

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

Machado-Joseph disease: essay of definition

Arquivos de Neuro-Psiquiatria, 1995
Paula Coutinho
doaj   +1 more source

Remote Measurement of Functional Status in Pre-symptomatic and Symptomatic Individuals with Machado-Joseph Disease. [PDF]

Cerebellum, 2023
Miglorini EC, de Souza VHI, de Oliveira CM, Bolzan G, Saraiva-Pereira ML, Leotti VB, Jardim LB.   +6 more
europepmc   +1 more source