Please use this identifier to cite or link to this item: http://hdl.handle.net/10316/12776
DC FieldValueLanguage
dc.contributor.authorAlves, Sandro-
dc.contributor.authorNascimento-Ferreira, Isabel-
dc.contributor.authorAuregan, Gwennaëlle-
dc.contributor.authorHassig, Raymonde-
dc.contributor.authorDufour, Noëlle-
dc.contributor.authorBrouillet, Emmanuel-
dc.contributor.authorLima, Maria C. Pedroso de-
dc.contributor.authorHantraye, Philippe-
dc.contributor.authorAlmeida, Luís Pereira de-
dc.contributor.authorDéglon, Nicole-
dc.date.accessioned2010-03-09T12:57:47Z-
dc.date.available2010-03-09T12:57:47Z-
dc.date.issued2008-10-
dc.identifier.citationPloS One. 3:10 (2008) e3341en_US
dc.identifier.issn1932-6203-
dc.identifier.urihttp://hdl.handle.net/10316/12776-
dc.description.abstractRecent 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 mutant ataxin-3 selectively. Lentiviral-mediated silencing of mutant human ataxin-3 was demonstrated in vitro and in a rat model of MJD in vivo. The allele-specific silencing of ataxin-3 significantly decreased the severity of the neuropathological abnormalities associated with MJD. These data demonstrate that RNAi has potential for use in MJD treatment and constitute the first proof-of-principle for allele-specific silencing in the central nervous systemen_US
dc.language.isoengen_US
dc.publisherPublic Library of Scienceen_US
dc.rightsopenAccessen_US
dc.titleAllele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a rat model of Machado-Joseph diseaseen_US
dc.typearticleen_US
dc.identifier.doi10.1371/journal.pone.0003341-
uc.controloAutoridadeSim-
item.languageiso639-1en-
item.grantfulltextopen-
item.fulltextCom Texto completo-
crisitem.author.deptFaculdade de Farmácia, Universidade de Coimbra-
crisitem.author.researchunitCNC.IBILI-
crisitem.author.orcid0000-0001-5831-3307-
Appears in Collections:FFUC- Artigos em Revistas Internacionais
FCTUC Ciências da Vida - Artigos em Revistas Internacionais
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