Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease [PDF]
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
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Recurrent divergence-insufficiency esotropia in Machado-Joseph disease (spinocerebellar ataxia type 3) [PDF]
American Journal of Ophthalmology Case Reports, 2022 Purpose: To describe a case of incomitant divergence insufficiency esotropia in the setting of Machado-Joseph disease (spinocerebellar ataxia type 3) that recurred completely within one week after augmented bilateral medial rectus recession. Observations:
Jeannette Y. Stallworth +2 more
doaj +2 more sources
The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research [PDF]
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
doaj +2 more sources
Profiling Microglia in a Mouse Model of Machado–Joseph Disease [PDF]
Biomedicines, 2022 Microglia have been increasingly implicated in neurodegenerative diseases (NDs), and specific disease associated microglia (DAM) profiles have been defined for several of these NDs.
Ana Bela Campos +13 more
doaj +2 more sources
Cerebellar morphometric and spectroscopic biomarkers for Machado-Joseph Disease [PDF]
Acta Neuropathologica Communications, 2022 Machado-Joseph disease (MJD) or Spinocerebellar ataxia type 3 (SCA3) is the most common form of dominant SCA worldwide. Magnetic Resonance Imaging (MRI) and Proton Magnetic Resonance Spectroscopy (1H-MRS) provide promising non-invasive diagnostic and ...
Catarina Oliveira Miranda +11 more
doaj +2 more sources
Neuropeptide Y (NPY) intranasal delivery alleviates Machado–Joseph disease [PDF]
Scientific Reports, 2021 Machado–Joseph disease (MJD) is the most common dominantly-inherited ataxia worldwide with no effective treatment to prevent, stop or alleviate its progression. Neuropeptide Y (NPY) is a neuroprotective agent widely expressed in the mammalian brain.
Joana Duarte-Neves +2 more
doaj +2 more sources
Implications of specific lysine residues within ataxin-3 for the molecular pathogenesis of Machado-Joseph disease [PDF]
Frontiers in Molecular Neuroscience, 2023 Lysine residues are one of the main sites for posttranslational modifications of proteins, and lysine ubiquitination of the Machado-Joseph disease protein ataxin-3 is implicated in its cellular function and polyglutamine expansion-dependent toxicity ...
Priscila Pereira Sena +13 more
doaj +2 more sources
Trehalose alleviates the phenotype of Machado–Joseph disease mouse models [PDF]
Journal of Translational Medicine, 2020 Background Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is the most common of the dominantly inherited ataxias worldwide and is characterized by mutant ataxin-3 aggregation and neuronal degeneration.
Magda M. Santana +10 more
doaj +2 more sources
What is the best way to keep walking and moving around for individuals with Machado-Joseph disease? A scoping review through the lens of Aboriginal families with Machado-Joseph disease in the Top End of Australia [PDF]
BMJ Open, 2019 Objectives Machado-Joseph disease (MJD) is the most common spinocerebellar ataxia worldwide. Prevalence is highest in affected remote Aboriginal communities of the Top End of Australia.
Jennifer J Carr +7 more
doaj +2 more sources
Mesenchymal stem cell-derived exosomes improve motor function and attenuate neuropathology in a mouse model of Machado-Joseph disease [PDF]
Stem Cell Research & Therapy, 2020 Background Machado-Joseph disease is the most common autosomal dominant hereditary ataxia worldwide without effective treatment. Mesenchymal stem cells (MSCs) could slow the disease progression, but side effects limited their clinical application ...
Hua-Jing You +11 more
doaj +2 more sources