Ontology highlight
ABSTRACT:
SUBMITTER: Kourkouta E
PROVIDER: S-EPMC6695277 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Kourkouta Eleni E Weij Rudie R González-Barriga Anchel A Mulder Melissa M Verheul Ruurd R Bosgra Sieto S Groenendaal Bas B Puoliväli Jukka J Toivanen Jussi J van Deutekom Judith C T JCT Datson Nicole A NA
Molecular therapy. Nucleic acids 20190719
Spinocerebellar ataxia type 3 (SCA3) and type 1 (SCA1) are dominantly inherited neurodegenerative disorders that are currently incurable. Both diseases are caused by a CAG-repeat expansion in exon 10 of the Ataxin-3 and exon 8 of the Ataxin-1 gene, respectively, encoding an elongated polyglutamine tract that confers toxic properties to the resulting proteins. We have previously shown lowering of the pathogenic polyglutamine protein in Huntington's disease mouse models using (CUG)7, a CAG repeat- ...[more]