| http://purl.uniprot.org/citations/36577403 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/36577403 | http://www.w3.org/2000/01/rdf-schema#comment | "Spinocerebellar ataxia type 1 (SCA1) is a dominant trinucleotide repeat neurodegenerative disease characterized by motor dysfunction, cognitive impairment, and premature death. Degeneration of cerebellar Purkinje cells is a frequent and prominent pathological feature of SCA1. We previously showed that transport of ATXN1 to Purkinje cell nuclei is required for pathology, where mutant ATXN1 alters transcription. To examine the role of ATXN1 nuclear localization broadly in SCA1-like disease pathogenesis, CRISPR-Cas9 was used to develop a mouse with an amino acid alteration (K772T) in the nuclear localization sequence of the expanded ATXN1 protein. Characterization of these mice indicates that proper nuclear localization of mutant ATXN1 contributes to many disease-like phenotypes including motor dysfunction, cognitive deficits, and premature lethality. RNA sequencing analysis of genes with expression corrected to WT levels in Atxn1175QK772T/2Q mice indicates that transcriptomic aspects of SCA1 pathogenesis differ between the cerebellum, brainstem, cerebral cortex, hippocampus, and striatum."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.neuron.2022.11.017"xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/author | "You Y."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/author | "Orr H.T."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/author | "Henzler C."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/author | "Cvetanovic M."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/author | "Zoghbi H.Y."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/author | "Serres S."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/author | "Ruis B.L."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/author | "O'Callaghan B."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/author | "Mitchell J.S."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/author | "Duvick L."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/author | "Rainwater O."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/author | "Coffin S.L."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/author | "Handler H.P."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/author | "Nichols-Meade T."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/author | "Mather K.B."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/author | "Reighard M."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/author | "Soles A."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/name | "Neuron"xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/pages | "493-507.e6"xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/title | "Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles."xsd:string |
| http://purl.uniprot.org/citations/36577403 | http://purl.uniprot.org/core/volume | "111"xsd:string |