Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing

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 la...

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Bibliographic Details
Published in:Hum Mol Genet
Main Authors: 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.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4291253/
https://ncbi.nlm.nih.gov/pubmed/25274775
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu500
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