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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...

詳細記述

保存先:
書誌詳細
出版年:Hum Mol Genet
主要な著者: Pizzi, Sara, Sertic, Sarah, Orcesi, Simona, Cereda, Cristina, Bianchi, Marika, Jackson, Andrew P., Lazzaro, Federico, Plevani, Paolo, Muzi-Falconi, Marco
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2015
主題:
オンライン・アクセス: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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