| http://purl.uniprot.org/citations/28002403 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28002403 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28002403 | http://www.w3.org/2000/01/rdf-schema#comment | "XRCC1 is a molecular scaffold protein that assembles multi-protein complexes involved in DNA single-strand break repair. Here we show that biallelic mutations in the human XRCC1 gene are associated with ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia. Cells from a patient with mutations in XRCC1 exhibited not only reduced rates of single-strand break repair but also elevated levels of protein ADP-ribosylation. This latter phenotype is recapitulated in a related syndrome caused by mutations in the XRCC1 partner protein PNKP and implicates hyperactivation of poly(ADP-ribose) polymerase/s as a cause of cerebellar ataxia. Indeed, remarkably, genetic deletion of Parp1 rescued normal cerebellar ADP-ribose levels and reduced the loss of cerebellar neurons and ataxia in Xrcc1-defective mice, identifying a molecular mechanism by which endogenous single-strand breaks trigger neuropathology. Collectively, these data establish the importance of XRCC1 protein complexes for normal neurological function and identify PARP1 as a therapeutic target in DNA strand break repair-defective disease."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.org/dc/terms/identifier | "doi:10.1038/nature20790"xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.org/dc/terms/identifier | "doi:10.1038/nature20790"xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Zeng Z."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Zeng Z."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Mancini G.M."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Mancini G.M."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Caldecott K.W."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Caldecott K.W."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "McKinnon P.J."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "McKinnon P.J."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Wagner J.D."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Wagner J.D."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Tetreault M."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Tetreault M."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Hornyak P."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Hornyak P."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Ju L."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Ju L."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Rulten S.L."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Rulten S.L."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Yoon G."xsd:string |
| http://purl.uniprot.org/citations/28002403 | http://purl.uniprot.org/core/author | "Yoon G."xsd:string |