Article
AAV-Mediated CAG-Targeting Selectively Reduces Polyglutamine-Expanded Protein and Attenuates Disease Phenotypes in a Spinocerebellar Ataxia Mouse Model.
International journal of molecular sciences - 15 Apr 2024
Niewiadomska-Cimicka Anna, Fievet Lorraine, Surdyka Magdalena, Jesion Ewelina, Keime Céline, Singer Elisabeth, Eisenmann Aurélie, Kalinowska-Poska Zaneta, Nguyen Hoa Huu Phuc, Fiszer Agnieszka, Figiel Maciej, Trottier Yvon
Abstract excerpt
Polyglutamine (polyQ)-encoding CAG repeat expansions represent a common disease-causing mutation responsible for several dominant spinocerebellar ataxias (SCAs). PolyQ-expanded SCA proteins are toxic for cerebellar neurons, with Purkinje cells (PCs) being the most vulnerable. RNA interference (RNAi) reagents targeting transcripts with expanded CAG reduce the level of various mutant SCA proteins in an...
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