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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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4291253/
https://www.ncbi.nlm.nih.gov/pubmed/25274775
http://dx.doi.org/10.1093/hmg/ddu500