Veronica F. Colomer Gould

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Machado-Joseph disease, also called spinocerebellar ataxia type 3 (MJD/SCA3), is a hereditary and neurodegenerative movement disorder caused by ataxin-3 with a pathological polyglutamine stretch (mutant ataxin-3). Seven transgenic mouse models expressing full-length human mutant ataxin-3 throughout the brain have been generated and are compared in this(More)
Machado-Joseph disease (MJD) is a fatal, dominant neurodegenerative disorder. MJD results from polyglutamine repeat expansion in the MJD-1 gene, conferring a toxic gain of function to the ataxin-3 protein. In this study, we aimed at overexpressing ataxin-3 in the rat brain using lentiviral vectors (LV), to generate an in vivo MJD genetic model and, to study(More)
Machado–Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is a hereditary neurodegenerative disorder resulting from 56–84 consecutive glutamines in mutant ataxin-3; normal ataxin-3 has 14–37 consecutive glutamines. Mutant ataxin-3 is widely expressed, causes neuronal loss in selective brain regions, and has isoforms such as mjd1a that result(More)
Machado-Joseph disease (MJD), also called spinocerebellar ataxia type 3, is caused by mutant ataxin-3 with a polyglutamine expansion. Although there is no treatment available at present to cure or delay the onset of MJD, mouse models have been generated to facilitate the development of a therapy. In this review, the published reports on mouse models of MJD(More)
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