Article
Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing.
Human molecular genetics - 1 Feb 2015
Carroll Jean, Page Tristan K W, Chiang Shih-Chieh, Kalmar Bernadett, Bode David, Greensmith Linda, Mckinnon Peter J, Thorpe Julian R, Hafezparast Majid, El-Khamisy Sherif F
Abstract excerpt
Aprataxin (APTX) deficiency causes progressive cerebellar degeneration, ataxia and oculomotor apraxia in man. Cell free assays and crystal structure studies demonstrate a role for APTX in resolving 5'-adenylated nucleic acid breaks, however, APTX function in vertebrates remains unclear due to the lack of an appropriate model system. Here, we generated a murine model in which a pathogenic mutant of superoxide...
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