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Evers, Melvin M; Tran, Hoang-Dai; Zalachoras, Ioannis; Pepers, Barry A; Meijer, Onno C; den Dunnen, Johan T; van Ommen, Gert-Jan B; Aartsma-Rus, Annemieke; van Roon-Mom, Willeke M.C
Neurobiology of disease, 10/2013, Letnik: 58Journal Article
Abstract Spinocerebellar ataxia type 3 is caused by a polyglutamine expansion in the ataxin-3 protein, resulting in gain of toxic function of the mutant protein. The expanded glutamine stretch in the protein is the result of a CAG triplet repeat expansion in the penultimate exon of the ATXN3 gene. Several gene silencing approaches to reduce mutant ataxin-3 toxicity in this disease aim to lower ataxin-3 protein levels, but since this protein is involved in deubiquitination and proteasomal protein degradation, its long-term silencing might not be desirable. Here, we propose a novel protein modification approach to reduce mutant ataxin-3 toxicity by removing the toxic polyglutamine repeat from the ataxin-3 protein through antisense oligonucleotide-mediated exon skipping while maintaining important wild type functions of the protein. In vitro studies showed that exon skipping did not negatively impact the ubiquitin binding capacity of ataxin-3. Our in vivo studies showed no toxic properties of the novel truncated ataxin-3 protein. These results suggest that exon skipping may be a novel therapeutic approach to reduce polyglutamine-induced toxicity in spinocerebellar ataxia type 3.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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