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Please use this identifier to cite or link to this item: http://hdl.handle.net/2067/1343

Title: The novel human gene aprataxin is directly involved in DNA single-strand-break repair.
Authors: Mosesso, Pasquale
Piane, Maria
Palitti, Fabrizio
Pepe, Gaetano
Penna, Sabrina
Chessa, Luciana
Keywords: DNA single-strand-break repair
Chromosomal aberration
Inhibitors of DNA topoisomerase I
Riparazione delle rotture a singolo filamento
Aberrazioni cromosomiche
Inibitori delle DNA topoisomerasi
Issue Date: 2005
Publisher: Birkhäuser Verlag
Citation: Mosesso, P. et al. 2005. The novel human gene aprataxin is directly involved in DNA single-strand-break repair. "Cellular and Molecular Life Sciences" 62(4): 485-491
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
Description: L'articolo è disponibile sul sito dell'editore: http://www.springerlink.com/
DOI: 10.1007/s00018-004-4441-0
URI: http://hdl.handle.net/2067/1343
ISSN: 1420-682X
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