{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T18:21:26Z","timestamp":1791397286123,"version":"4.3.3"},"reference-count":44,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2012,6,13]],"date-time":"2012-06-13T00:00:00Z","timestamp":1339545600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cell Biochemistry &amp;amp; Function"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:p>Batten disease is an inherited disorder characterized by early onset neurodegeneration due to the mutation of the <jats:italic>CLN3<\/jats:italic> gene. The function of the CLN3 protein is not clear, but an association with oxidative stress has been proposed. Oxidative stress and DNA damage play critical roles in the pathogenesis of neurodegenerative diseases. Antioxidants are of interest because of their therapeutic potential for treating neurodegenerative diseases. We tested whether <jats:italic>N<\/jats:italic>\u2010acetylcysteine (NAC), a well\u2010known antioxidant, improves the pathology of cells from patients with Batten disease. At first, the expression levels of urea cycle components and DNA repair enzymes were compared between Batten disease cells and normal cells. We used both mRNA expression levels and Western blot analysis. We found that carbamoyl phosphate synthetase 1, an enzyme involved in the urea cycle, 8\u2010oxoguanine DNA glycosylase 1 and DNA polymerase beta, enzymes involved in DNA repair, were expressed at higher levels in Batten disease cells than in normal cells. The treatment of Batten disease cells with NAC for 48 h attenuated activities of the urea cycle and of DNA repair, as indicated by the substantially decreased expression levels of carbamoyl phosphate synthetase 1, 8\u2010oxoguanine DNA glycosylase 1 and DNA polymerase beta proteins compared with untreated Batten cells. NAC may serve in alleviating the burden of urea cycle and DNA repair processes in Batten disease cells. We propose that NAC may have beneficial effects in patients with Batten disease. Copyright \u00a9 2012 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/cbf.2849","type":"journal-article","created":{"date-parts":[[2012,6,13]],"date-time":"2012-06-13T04:42:03Z","timestamp":1339562523000},"page":"677-682","source":"Crossref","is-referenced-by-count":10,"title":["<i>N<\/i>\u2010acetylcysteine normalizes the urea cycle and DNA repair in cells from patients with Batten disease"],"prefix":"10.1002","volume":"30","author":[{"given":"June\u2010Bum","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Pediatrics Seoul Children's Hospital  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nary","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Biotechnology Hoseo University  165, Baebang Asan Chungnam 336\u2010795 Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung\u2010Jo","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Biotechnology Hoseo 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