{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T14:51:21Z","timestamp":1791125481242,"version":"4.1.0"},"reference-count":38,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T00:00:00Z","timestamp":1172016000000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2007,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Early\u2010onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)\/ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive form of cerebellar ataxia. The causative protein for EAOH\/AOA1, aprataxin (APTX), interacts with X\u2010ray repair cross\u2010complementing 1 (XRCC1), a scaffold DNA repair protein for single\u2010strand breaks (SSBs). The goal of this study was to prove the functional involvement of APTX in SSB repair (SSBR).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We visualized the SSBR process with a recently developed laser irradiation system that allows real\u2010time observation of SSBR proteins and with a local ultraviolet\u2010irradiation system using a XPA\u2010UVDE cell line that repairs DNA lesions exclusively via SSBR. APTX was knocked down using small interference RNA in the cells. Oxidative stress\u2013induced DNA damage and cell death were assessed in EAOH fibroblasts and cerebellum.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Our systems showed the XRCC1\u2010dependent recruitment of APTX to SSBs. SSBR was impaired in APTX\u2010knocked\u2010down cells. Oxidative stress in EAOH fibroblasts readily induced SSBs and cell death, which were blocked by antioxidants. Accumulated oxidative DNA damage was confirmed in EAOH cerebellum.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      This study provides the first direct evidence for the functional involvement of APTX in SSBR and\n                      <jats:italic>in vivo<\/jats:italic>\n                      DNA damage in EAOH\/AOA1, and suggests a benefit of antioxidant treatment. Ann Neurol 2007;61:162\u2013174\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ana.21078","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T16:10:17Z","timestamp":1172074217000},"page":"162-174","source":"Crossref","is-referenced-by-count":58,"title":["DNA single\u2010strand break repair is impaired in aprataxin\u2010related 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