| http://purl.uniprot.org/citations/24793032 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24793032 | http://www.w3.org/2000/01/rdf-schema#comment | "DNA damage is considered to be a prime factor in several spinocerebellar neurodegenerative diseases; however, the DNA lesions underpinning disease etiology are unknown. We observed the endogenous accumulation of pathogenic topoisomerase-1 (Top1)-DNA cleavage complexes (Top1ccs) in murine models of ataxia telangiectasia and spinocerebellar ataxia with axonal neuropathy 1. We found that the defective DNA damage response factors in these two diseases cooperatively modulated Top1cc turnover in a non-epistatic and ATM kinase-independent manner. Furthermore, coincident neural inactivation of ATM and DNA single-strand break repair factors, including tyrosyl-DNA phosphodiesterase-1 or XRCC1, resulted in increased Top1cc formation and excessive DNA damage and neurodevelopmental defects. Notably, direct Top1 poisoning to elevate Top1cc levels phenocopied the neuropathology of the mouse models described above. Our results identify a critical endogenous pathogenic lesion associated with neurodegenerative syndromes arising from DNA repair deficiency, indicating that genome integrity is important for preventing disease in the nervous system."xsd:string |
| http://purl.uniprot.org/citations/24793032 | http://purl.org/dc/terms/identifier | "doi:10.1038/nn.3715"xsd:string |
| http://purl.uniprot.org/citations/24793032 | http://purl.uniprot.org/core/author | "Li Y."xsd:string |
| http://purl.uniprot.org/citations/24793032 | http://purl.uniprot.org/core/author | "Lee Y."xsd:string |
| http://purl.uniprot.org/citations/24793032 | http://purl.uniprot.org/core/author | "Zhao J."xsd:string |
| http://purl.uniprot.org/citations/24793032 | http://purl.uniprot.org/core/author | "Shimada M."xsd:string |
| http://purl.uniprot.org/citations/24793032 | http://purl.uniprot.org/core/author | "Katyal S."xsd:string |
| http://purl.uniprot.org/citations/24793032 | http://purl.uniprot.org/core/author | "McKinnon P.J."xsd:string |
| http://purl.uniprot.org/citations/24793032 | http://purl.uniprot.org/core/author | "Petrini J.H."xsd:string |
| http://purl.uniprot.org/citations/24793032 | http://purl.uniprot.org/core/author | "Russell H.R."xsd:string |
| http://purl.uniprot.org/citations/24793032 | http://purl.uniprot.org/core/author | "Nitiss J.L."xsd:string |
| http://purl.uniprot.org/citations/24793032 | http://purl.uniprot.org/core/author | "Nitiss K.C."xsd:string |
| http://purl.uniprot.org/citations/24793032 | http://purl.uniprot.org/core/author | "Downing S.M."xsd:string |
| http://purl.uniprot.org/citations/24793032 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24793032 | http://purl.uniprot.org/core/name | "Nat Neurosci"xsd:string |
| http://purl.uniprot.org/citations/24793032 | http://purl.uniprot.org/core/pages | "813-821"xsd:string |
| http://purl.uniprot.org/citations/24793032 | http://purl.uniprot.org/core/title | "Aberrant topoisomerase-1 DNA lesions are pathogenic in neurodegenerative genome instability syndromes."xsd:string |
| http://purl.uniprot.org/citations/24793032 | http://purl.uniprot.org/core/volume | "17"xsd:string |
| http://purl.uniprot.org/citations/24793032 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24793032 |
| http://purl.uniprot.org/citations/24793032 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/24793032 |
| http://purl.uniprot.org/uniprot/#_A0A0J9YTV1-mappedCitation-24793032 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24793032 |
| http://purl.uniprot.org/uniprot/#_A0A0J9YUF9-mappedCitation-24793032 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24793032 |
| http://purl.uniprot.org/uniprot/#_E9Q9A5-mappedCitation-24793032 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24793032 |
| http://purl.uniprot.org/uniprot/#_A0A0J9YUT2-mappedCitation-24793032 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24793032 |