| http://purl.uniprot.org/citations/7647801 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7647801 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7647801 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0595-94"xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0595-94"xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/author | "Orr H.T."xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/author | "Orr H.T."xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/author | "Armstrong D."xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/author | "Armstrong D."xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/author | "Zoghbi H.Y."xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/author | "Zoghbi H.Y."xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/author | "Antalffy B."xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/author | "Antalffy B."xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/author | "Koshy B."xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/author | "Koshy B."xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/author | "Servadio A."xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/author | "Servadio A."xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/pages | "94-98"xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/pages | "94-98"xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/title | "Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals."xsd:string |
| http://purl.uniprot.org/citations/7647801 | http://purl.uniprot.org/core/title | "Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals."xsd:string |