Results 91 to 100 of about 4,259 (123)

The deubiquitinase function of ataxin-3 and its role in the pathogenesis of Machado-Joseph disease and other diseases. [PDF]

Biochem J
Potapenko A, Davidson JM, Lee A, Laird AS.   +3 more
europepmc   +1 more source

Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease. [PDF]

Hum Genet
Sidky AM, Melo ARV, Kay TT, Raposo M, Lima M, Monckton DG.   +5 more
europepmc   +1 more source

The Machado-Joseph disease deubiquitylase ataxin-3 interacts with LC3C/GABARAP and promotes autophagy. [PDF]

Aging Cell, 2020
Herzog LK, Kevei É, Marchante R, Böttcher C, Bindesbøll C, Lystad AH, Pfeiffer A, Gierisch ME, Salomons FA, Simonsen A, Hoppe T, Dantuma NP.   +11 more
europepmc   +1 more source

Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease-Robust Tools for Direct and Indirect Detection of the ATXN3 (CAG)_n Repeat Expansion. [PDF]

Int J Mol Sci
Lian M, Tan VJ, Taguchi R, Zhao M, Phang GP, Tan AS, Liu S, Lee CG, Chong SS.   +8 more
europepmc   +1 more source

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease. [PDF]

Aging (Albany NY), 2020
Akçimen F, Martins S, Liao C, Bourassa CV, Catoire H, Nicholson GA, Riess O, Raposo M, França MC, Vasconcelos J, Lima M, Lopes-Cendes I, Saraiva-Pereira ML, Jardim LB, Sequeiros J, Dion PA, Rouleau GA.   +16 more
europepmc   +1 more source

Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal

, 2022
Couto D, Sousa L, Sequeiros J, Lima M, Mendes Á.   +4 more
europepmc   +1 more source

Calpain-1 ablation partially rescues disease-associated hallmarks in models of Machado-Joseph disease. [PDF]

Hum Mol Genet, 2020
Weber JJ, Haas E, Maringer Y, Hauser S, Casadei NLP, Chishti AH, Riess O, Hübener-Schmid J.   +7 more
europepmc   +1 more source

Identifying Therapeutic Targets for Spinocerebellar Ataxia Type 3/Machado-Joseph Disease through Integration of Pathological Biomarkers and Therapeutic Strategies. [PDF]

Int J Mol Sci, 2020
Chen YS, Hong ZX, Lin SZ, Harn HJ.
europepmc   +1 more source

Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor. [PDF]

Eur J Hum Genet, 2019
Sharony R, Martins S, Costa IPD, Zaltzman R, Amorim A, Sequeiros J, Gordon CR.   +6 more
europepmc   +1 more source

Development of an AAV-Based MicroRNA Gene Therapy to Treat Machado-Joseph Disease. [PDF]

Mol Ther Methods Clin Dev, 2019
Martier R, Sogorb-Gonzalez M, Stricker-Shaver J, Hübener-Schmid J, Keskin S, Klima J, Toonen LJ, Juhas S, Juhasova J, Ellederova Z, Motlik J, Haas E, van Deventer S, Konstantinova P, Nguyen HP, Evers MM.   +15 more
europepmc   +1 more source