| http://purl.uniprot.org/citations/17519253 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17519253 | http://www.w3.org/2000/01/rdf-schema#comment | "Aprataxin is the causative gene product for early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia type 1 (EAOH/AOA1), the clinical symptoms of which are predominantly neurological. Although aprataxin has been suggested to be related to DNA single-strand break repair (SSBR), the physiological function of aprataxin remains to be elucidated. DNA single-strand breaks (SSBs) continually produced by endogenous reactive oxygen species or exogenous genotoxic agents, typically possess damaged 3'-ends including 3'-phosphate, 3'-phosphoglycolate, or 3'-alpha, beta-unsaturated aldehyde ends. These damaged 3'-ends should be restored to 3'-hydroxyl ends for subsequent repair processes. Here we demonstrate by in vitro assay that recombinant human aprataxin specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends, and can act with DNA polymerase beta and DNA ligase III to repair SSBs with these damaged 3'-ends. Furthermore, disease-associated mutant forms of aprataxin lack this removal activity. The findings indicate that aprataxin has an important role in SSBR, that is, it removes blocking molecules from 3'-ends, and that the accumulation of unrepaired SSBs with damaged 3'-ends underlies the pathogenesis of EAOH/AOA1. The findings will provide new insight into the mechanism underlying degeneration and DNA repair in neurons."xsd:string |
| http://purl.uniprot.org/citations/17519253 | http://purl.org/dc/terms/identifier | "doi:10.1093/nar/gkm158"xsd:string |
| http://purl.uniprot.org/citations/17519253 | http://purl.uniprot.org/core/author | "Koyama A."xsd:string |
| http://purl.uniprot.org/citations/17519253 | http://purl.uniprot.org/core/author | "Nishizawa M."xsd:string |
| http://purl.uniprot.org/citations/17519253 | http://purl.uniprot.org/core/author | "Takahashi T."xsd:string |
| http://purl.uniprot.org/citations/17519253 | http://purl.uniprot.org/core/author | "Yoshida Y."xsd:string |
| http://purl.uniprot.org/citations/17519253 | http://purl.uniprot.org/core/author | "Igarashi S."xsd:string |
| http://purl.uniprot.org/citations/17519253 | http://purl.uniprot.org/core/author | "Tsuji S."xsd:string |
| http://purl.uniprot.org/citations/17519253 | http://purl.uniprot.org/core/author | "Onodera O."xsd:string |
| http://purl.uniprot.org/citations/17519253 | http://purl.uniprot.org/core/author | "Tada M."xsd:string |
| http://purl.uniprot.org/citations/17519253 | http://purl.uniprot.org/core/author | "Date H."xsd:string |
| http://purl.uniprot.org/citations/17519253 | http://purl.uniprot.org/core/author | "Shiga A."xsd:string |
| http://purl.uniprot.org/citations/17519253 | http://purl.uniprot.org/core/author | "Yokoseki A."xsd:string |
| http://purl.uniprot.org/citations/17519253 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17519253 | http://purl.uniprot.org/core/name | "Nucleic Acids Res"xsd:string |
| http://purl.uniprot.org/citations/17519253 | http://purl.uniprot.org/core/pages | "3797-3809"xsd:string |
| http://purl.uniprot.org/citations/17519253 | http://purl.uniprot.org/core/title | "Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends."xsd:string |
| http://purl.uniprot.org/citations/17519253 | http://purl.uniprot.org/core/volume | "35"xsd:string |
| http://purl.uniprot.org/citations/17519253 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/17519253 |
| http://purl.uniprot.org/citations/17519253 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/17519253 |
| http://purl.uniprot.org/uniprot/Q7Z2E3#attribution-D59808D95809E78B9C7BB0562893BAA1 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/17519253 |