| http://purl.uniprot.org/citations/25768905 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25768905 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25768905 | http://www.w3.org/2000/01/rdf-schema#comment | "Spinocerebellar ataxia type 1 (SCA1) is a paradigmatic neurodegenerative proteinopathy, in which a mutant protein (in this case, ATAXIN1) accumulates in neurons and exerts toxicity; in SCA1, this process causes progressive deterioration of motor coordination. Seeking to understand how post-translational modification of ATAXIN1 levels influences disease, we discovered that the RNA-binding protein PUMILIO1 (PUM1) not only directly regulates ATAXIN1 but also plays an unexpectedly important role in neuronal function. Loss of Pum1 caused progressive motor dysfunction and SCA1-like neurodegeneration with motor impairment, primarily by increasing Ataxin1 levels. Breeding Pum1(+/-) mice to SCA1 mice (Atxn1(154Q/+)) exacerbated disease progression, whereas breeding them to Atxn1(+/-) mice normalized Ataxin1 levels and largely rescued the Pum1(+/-) phenotype. Thus, both increased wild-type ATAXIN1 levels and PUM1 haploinsufficiency could contribute to human neurodegeneration. These results demonstrate the importance of studying post-transcriptional regulation of disease-driving proteins to reveal factors underlying neurodegenerative disease."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.cell.2015.02.012"xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.cell.2015.02.012"xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Kang H."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Kang H."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Han K."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Han K."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Singh R.K."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Singh R.K."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Kim J.Y."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Kim J.Y."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "De Maio A."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "De Maio A."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Orr H.T."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Orr H.T."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Zoghbi H.Y."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Zoghbi H.Y."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Cooper T.A."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Cooper T.A."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Gennarino V.A."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Gennarino V.A."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Jafar-Nejad P."xsd:string |
| http://purl.uniprot.org/citations/25768905 | http://purl.uniprot.org/core/author | "Jafar-Nejad P."xsd:string |