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
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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
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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
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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
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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
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Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins? [PDF]
Frontiers in Genetics, 2019 Machado-Joseph disease (MJD, also known as spinocerebellar ataxia 3 or SCA3) is the most common dominant ataxia worldwide, with an overall average prevalence of 1–5/100,000. To this date, two major ancestral lineages have been found throughout the world.
Tianjiao Li +22 more
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State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change [PDF]
Genetics and Molecular Biology, 2019 Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine at ataxin-3, SCA3/MJD presents a relentless course with no current disease modifying treatment.
Gabriel Vasata Furtado +5 more
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Sentinel Node Biopsy and Lumpectomy in a Patient with Machado–Joseph Disease [PDF]
Case Reports in Anesthesiology, 2019 Spinocerebellar ataxia 3 (SCA3), also known as Machado–Joseph disease (MJD) is an autosomal dominant, progressive neurodegenerative disorder. Patients present with cerebellar ataxia, dystonia, rigidity, and neuropathy that worsen with time.
N. N. Aldawoodi +3 more
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T2-hyperintensity in the internal globus pallidus in Machado-Joseph disease [PDF]
Arquivos de Neuro-Psiquiatria, 2023 Alex T. Meira +6 more
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A Difficult Case to Diagnose: Machado-Joseph Disease/Spinocerebellar Ataxia Type III
Journal of Aziz Fatimah Medical and Dental College, 2023 Machado-Joseph Disease, also known as Spinocerebellar Ataxia Type III, was initially described in patients of Azorean heritage as a neurodegenerative disease but is now known to occur globally.
Muhammad Sohail Ajmal Ghoauri +5 more
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