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
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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
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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
James Shorter, Nancy Bonini
exaly +3 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 ...
Linlin Wan, Beisha Tang, Na Wan
exaly +3 more sources
Frontiers in Aging Neuroscience, 2022 Recently, NPY overexpression has been proposed to alleviate motor deficits and neuropathy in Machado-Joseph disease (MJD) mouse models, indicating its neuroprotective role in the pathogenesis of MJD.
Dongxue Ding +12 more
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Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease
Cells, 2023 Machado-Joseph disease (MJD) is a dominant neurodegenerative disease caused by an expanded CAG repeat in the ATXN3 gene encoding the ataxin-3 protein. Several cellular processes, including transcription and apoptosis, are disrupted in MJD.
Ana F. Ferreira +10 more
doaj +1 more source
Machado Joseph disease severity is linked with gut microbiota alterations in transgenic mice
Neurobiology of Disease, 2023 Emerging evidence suggests the presence of bidirectional interactions between the central nervous system and gut microbiota that may contribute to the pathogenesis of neurodegenerative diseases.
Hasinika K.A.H. Gamage +4 more
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Biomedicines, 2023 Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant ataxia worldwide. MJD is characterized by late-onset progressive cerebellar ataxia associated with variable clinical findings, including pyramidal ...
Manuela Lima +14 more
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The role of apolipoprotein E as a risk factor for an earlier age at onset for Machado-Joseph disease is doubtful. [PDF]
PLoS ONE, 2014 Machado-Joseph disease (MJD) is an inherited neurodegenerative disease caused by an expanded CAG repeat in the ATXN3 gene. Although the principal genetic determinant of the age at onset (AAO) is the length of the expanded CAG repeat, the additional ...
Qi Zhou +5 more
doaj +1 more source
Machado-Joseph disease versus hereditary spastic paraplegia: case report [PDF]
Arquivos de Neuro-Psiquiatria, 2001 Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia and presents great phenotypic variability. MJD presenting with spastic paraparesis was recently described in Japanese patients.
Hélio A. Ghizoni Teive +4 more
doaj +1 more source