Hsp104 Suppresses Polyglutamine-Induced Degeneration Post Onset in a Drosophila MJD/SCA3 Model
PLoS Genetics, 2013 There are no effective therapeutics that antagonize or reverse the protein-misfolding events underpinning polyglutamine (PolyQ) disorders, including Spinocerebellar Ataxia Type-3 (SCA3). Here, we augment the proteostasis network of Drosophila SCA3 models
Nancy M Bonini, James Shorter
exaly +7 more sources
Autophagy- and oxidative stress-related protein deregulation mediated by extracellular vesicles of human MJD/SCA3 iPSC-derived neuroepithelial stem cells and differentiated neural cultures [PDF]
Cell Death and DiseaseExtracellular vesicles (EVs) have been associated with the transport of molecules related to the pathological processes in neurodegenerative diseases. Machado-Joseph disease (MJD) is a neurodegenerative disorder triggered by mutant ataxin-3 protein that ...
Liliana S. Mendonça +6 more
doaj +5 more sources
Cerebellar lncRNA Expression Profile Analysis of SCA3/MJD Mice [PDF]
International Journal of Genomics, 2018 Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia in China with highly clinical heterogeneity, such as progressive cerebellar ataxia, dysarthria, pyramidal signs, external ...
Zhe Long +15 more
doaj +5 more sources
Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report [PDF]
BMC Neurology, 2011 Background Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene.
Vasconcelos João +9 more
doaj +11 more sources
Frontiers in Neuroscience, 2020 Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a progressive autosomal dominantly inherited cerebellar ataxia characterized by the aggregation of polyglutamine-expanded protein within neuronal nuclei in the brain, which can lead to ...
Na Wan, Linlin Wan, Beisha Tang
exaly +6 more sources
The SCA1 (Spinocerebellar ataxia type 1) and MJD (Machado-Joseph disease) CAG repeats in normal individuals: segregation analysis and allele frequencies [PDF]
Genetics and Molecular Biology, 2003 Spinocerebellar ataxia type 1 (SCA1) and Machado-Joseph disease (MJD/SCA3) are autosomal dominant neurodegenerative diseases caused by expansions of a CAG trinucleotide repeat in the SCA1 and MJD genes.
Cláudia Emília Vieira Wiezel +2 more
doaj +3 more sources
Gene-Related Cerebellar Neurodegeneration in SCA3/MJD: A Case-Controlled Imaging-Genetic Study [PDF]
Frontiers in Neurology, 2019 Background: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is one of the nine polyglutamine (polyQ) diseases and is caused by a CAG repeat expansion within the coding sequence of the ATXN3 gene.
Huirong Peng +19 more
doaj +2 more sources
Understanding barriers to treatment-seeking in Mseleni joint disease: A multistaged study in rural KwaZulu-Natal, South Africa [PDF]
African Journal of Primary Health Care & Family MedicineBackground: Mseleni joint disease (MJD) is a degenerative chondrodysplasia of unknown aetiology that is endemic to uMkhanyekude in KwaZulu-Natal, South Africa.
Elizabeth S. Dinkele +3 more
doaj +2 more sources
Broad Influence of Mutant Ataxin-3 on the Proteome of the Adult Brain, Young Neurons, and Axons Reveals Central Molecular Processes and Biomarkers in SCA3/MJD Using Knock-In Mouse Model [PDF]
Frontiers in Molecular Neuroscience, 2021 Kalina Wiatr +2 more
exaly +3 more sources
Global DNA methylation is not elevated in blood samples from Machado-Joseph disease mutation carriers [PDF]
EpigeneticsMachado-Joseph disease (MJD) is an autosomal dominant spinocerebellar ataxia (SCA) caused by a polyglutamine expansion in the ataxin-3 protein, which initiates a cascade of pathogenic events, including transcriptional dysregulation.
Luís Teves +6 more
doaj +2 more sources