| Literature DB >> 7647801 |
A Servadio1, B Koshy, D Armstrong, B Antalffy, H T Orr, H Y Zoghbi.
Abstract
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by expansion of a CAG trinucleotide repeat which codes for glutamine in the protein ataxin-1. We have investigated the effect of this expansion on ataxin-1 by immunoblot analysis. The wild-type protein is detected in both normal and affected individuals; however, a mutant protein which varies in its migration properties according to the size of the CAG repeat is detected in cultured cells and tissues from SCA1 individuals. The protein has a nuclear localization in all normal and SCA1 brain regions examined but a cytoplasmic localization of ataxin-1 was also observed in cerebellar Purkinje cells. Our data show that in SCA1, the expanded alleles are faithfully translated into proteins of apparently normal stability and distribution.Entities:
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Year: 1995 PMID： 7647801 DOI： 10.1038/ng0595-94
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330