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Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease
Alves, Sandro; Régulier, Etienne; Nascimento-Ferreira, Isabel; Hassig, Raymonde; Dufour, Noelle; Koeppen, Arnulf; Carvalho, Ana Luísa; Simões, SérgioMachado-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 the disorder in defined brain regions: substantia nigr...
Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a ...
Alves, Sandro; Nascimento-Ferreira, Isabel; Auregan, Gwennaëlle; Hassig, Raymonde; Dufour, Noëlle; Brouillet, Emmanuel; Lima, Maria C. Pedroso deRecent studies have demonstrated that RNAi is a promising approach for treating autosomal dominant disorders. However, discrimination between wild-type and mutant transcripts is essential, to preserve wild-type expression and function. A single nucleotide polymorphism (SNP) is present in more than 70% of patients with Machado-Joseph disease (MJD). We investigated whether this SNP could be used to inactivate mut...
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