Article
Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: removal of the CAG containing exon.
Neurobiology of disease - 1 Oct 2013
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
Abstract excerpt
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...
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