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• W2330742770 abstract "The cells of an ataxia-oculomotor apraxia type 1 (AOA1) patient, homozygous for a new aprataxin mutation (T739C), were treated with camptothecin, an inhibitor of DNA topoisomerase I which induces DNA single-strand breaks. DNA damage was evaluated by cytogenetic analysis of chromosomal aberrations. The results obtained showed marked and dose-related increases in induced chromosomal aberrations in the patient and her heterozygous mother compared to the intrafamilial wild-type control. The alkaline comet assay confirmed this pattern. Moreover, the AOA1 cells did not show hypersensitivity to ionizing radiation, i.e. X-rays. These findings clearly indicate the direct involvement of aprataxin in the DNA single-strand-break repair machinery." @default.
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• W2330742770 date "2005-02-01" @default.
• W2330742770 modified "2023-10-16" @default.
• W2330742770 title "The novel human gene aprataxin is directly involved in DNA single-strand-break repair" @default.
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• W2330742770 doi "https://doi.org/10.1007/s00018-004-4441-0" @default.
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