Reduction of hRNase H2 activity in Aicardi–Goutières syndrome cells leads to replication stress and genome instability

Aicardi–Goutières syndrome (AGS) is an inflammatory encephalopathy caused by defective nucleic acids metabolism. Over 50% of AGS mutations affect RNase H2 the only enzyme able to remove single ribonucleotidemonophosphates (rNMPs) embedded in DNA. Ribonucleotide triphosphates (rNTPs) are incorporated...

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Publicado en:Hum Mol Genet
Main Authors: Pizzi, Sara, Sertic, Sarah, Orcesi, Simona, Cereda, Cristina, Bianchi, Marika, Jackson, Andrew P., Lazzaro, Federico, Plevani, Paolo, Muzi-Falconi, Marco
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2015
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Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4291245/
https://ncbi.nlm.nih.gov/pubmed/25274781
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu485
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