| http://purl.uniprot.org/citations/35290244 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/35290244 | http://www.w3.org/2000/01/rdf-schema#comment | "Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disorder. As disease progresses, motor neurons are affected, and their dysfunction contributes toward the inability to maintain proper respiratory function, a major driving force for premature death in SCA1. To investigate the isolated role of motor neurons in SCA1, we created a conditional SCA1 (cSCA1) mouse model. This model suppresses expression of the pathogenic SCA1 allele with a floxed stop cassette. cSCA1 mice crossed to a ubiquitous Cre line recapitulate all the major features of the original SCA1 mouse model; however, they took twice as long to develop. We found that the cSCA1 mice produced less than half of the pathogenic protein compared with the unmodified SCA1 mice at 3 weeks of age. In contrast, restricted expression of the pathogenic SCA1 allele in motor neurons only led to a decreased distance traveled of mice in the open field assay and did not affect body weight or survival. We conclude that a 50% or greater reduction of the mutant protein has a dramatic effect on disease onset and progression; furthermore, we conclude that expression of polyglutamine-expanded ATXN1 at this level specifically in motor neurons is not sufficient to cause premature lethality."xsd:string |
| http://purl.uniprot.org/citations/35290244 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci.insight.154442"xsd:string |
| http://purl.uniprot.org/citations/35290244 | http://purl.uniprot.org/core/author | "Orr H.T."xsd:string |
| http://purl.uniprot.org/citations/35290244 | http://purl.uniprot.org/core/author | "Nitschke L."xsd:string |
| http://purl.uniprot.org/citations/35290244 | http://purl.uniprot.org/core/author | "Zoghbi H.Y."xsd:string |
| http://purl.uniprot.org/citations/35290244 | http://purl.uniprot.org/core/author | "Orengo J.P."xsd:string |
| http://purl.uniprot.org/citations/35290244 | http://purl.uniprot.org/core/author | "van der Heijden M.E."xsd:string |
| http://purl.uniprot.org/citations/35290244 | http://purl.uniprot.org/core/author | "Ciaburri N.A."xsd:string |
| http://purl.uniprot.org/citations/35290244 | http://purl.uniprot.org/core/date | "2022"xsd:gYear |
| http://purl.uniprot.org/citations/35290244 | http://purl.uniprot.org/core/name | "JCI Insight"xsd:string |
| http://purl.uniprot.org/citations/35290244 | http://purl.uniprot.org/core/pages | "e154442"xsd:string |
| http://purl.uniprot.org/citations/35290244 | http://purl.uniprot.org/core/title | "Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model."xsd:string |
| http://purl.uniprot.org/citations/35290244 | http://purl.uniprot.org/core/volume | "7"xsd:string |
| http://purl.uniprot.org/citations/35290244 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/35290244 |
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