Results 31 to 40 of about 4,240 (105)
Stem Cell Research, 2020 Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is autosomal-dominant neurodegenerative disease caused by an expansion of polyglutamine-encoding CAG repeats in the ATXN3 gene.
Agata Ciolak +3 more
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Stem Cell Research, 2022 Spinal cerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the result of abnormal repeat amplification of CAG of the ATXN3 gene.
Yang Yinghong +6 more
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Neuropeptide Y (NPY) as a therapeutic target for neurodegenerative diseases
Neurobiology of Disease, 2016 Neuropeptide Y (NPY) and NPY receptors are widely expressed in the mammalian central nervous system. Studies in both humans and rodent models revealed that brain NPY levels are altered in some neurodegenerative disorders, such as Alzheimer's disease ...
Joana Duarte-Neves +2 more
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Stem Cell Research, 2020 Using a non-integrative reprogramming method, a human iPSC Line, ZZUNEUi002-A, was generated from a 22-year-old male patient with spinocerebellar ataxia type 3 /Machado-Joseph disease (SCA3/MJD).
Liting Wei +6 more
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SUMO-1 modification on K166 of polyQ-expanded ataxin-3 strengthens its stability and increases its cytotoxicity. [PDF]
PLoS ONE, 2013 Post-translational modification by SUMO was proposed to modulate the pathogenesis of several neurodegenerative diseases. Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant neurodegenerative disease caused by polyQ ...
Ya-Fang Zhou +11 more
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Assessment of Bone Mineral Density of Patients with Spinocerebellar Ataxia Type 3 [PDF]
Journal of Movement Disorders, 2019 Objective Machado-Joseph disease (MJD) is a spinocerebellar ataxia, and osteoporosis is a multifactor disease that may affect patients with neurologic conditions. The frequency of osteoporosis among MJD patients, however, has not been studied.
Aline MS Farias +6 more
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Machado-Joseph Disease: from first descriptions to new perspectives
Orphanet Journal of Rare Diseases, 2011 Machado-Joseph Disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), represents the most common form of SCA worldwide. MJD is an autosomal dominant neurodegenerative disorder of late onset, involving predominantly the cerebellar, pyramidal ...
Bettencourt Conceição, Lima Manuela
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Stem Cell Research, 2019 The induced pluripotent stem cell (iPSC) line XHCSUi001-A generated from urine cells of a female spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) patient by using the integration-free methods.
Lang He +11 more
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Coenzyme Q10: Role in Less Common Age-Related Disorders
Antioxidants, 2022 In this article we have reviewed the potential role of coenzyme Q10 (CoQ10) in the pathogenesis and treatment of a number of less common age-related disorders, for many of which effective therapies are not currently available. For most of these disorders,
David Mantle, Iain P. Hargreaves
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Paula Coutinho’s outstanding contribution to the definition of Machado-Joseph disease
Arquivos de Neuro-PsiquiatriaMachado-Joseph disease, also known as spinocerebellar ataxia type 3, is the most common form of autosomal dominant ataxia in the world. Paula Coutinho, a highly-regarded Portuguese neurologist worldwide, had a seminal participation in the definition of ...
Bruno Carniatto Marques Garcia +4 more
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