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Slow mitochondrial repair of 5′-AMP renders mtDNA susceptible to damage in APTX deficient cells

Aborted DNA ligation events in eukaryotic cells can generate 5′-adenylated (5′-AMP) DNA termini that can be removed from DNA by aprataxin (APTX). Mutations in APTX cause an inherited human disease syndrome characterized by early-onset progressive ataxia with ocular motor apraxia (AOA1). APTX is foun...

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Publicat a:Sci Rep
Autors principals: Akbari, Mansour, Sykora, Peter, Bohr, Vilhelm A.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4530458/
https://ncbi.nlm.nih.gov/pubmed/26256098
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep12876
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