Defective removal of ribonucleotides from DNA promotes systemic lupus erythematosus
نویسندگان
چکیده
C Günther, B Kind, MAM Reijns, N Berndt, M Martinez-Bueno, C Wolf, V Tüngler, O Chara, YA Lee, N Hübner, YA Lee, L Bicknell, S Blum, C Krug, F Schmidt, C Krug, S Kretschmer, S Koss, KR Astell, G Ramantani, A Bauerfeind, DL Morris, DS Cunninghame Graham, D Bubeck, A Leitch, SH Ralston, EA Blackburn, M Gahr, T Witte, TJ Vyse, I Melchers, E Mangold, MM Nöthen, M Aringer, A Kuhn, K Lüthke, L Unger, A Bley, A Lorenzi, JD Isaacs, D Alexopoulou, K Conrad, A Dahl, A Roers, ME Alarcon-Riquelme, AP Jackson, MA Lee-Kirsch
منابع مشابه
AGS, SLE, and RNASEH2 mutations: translating insights into therapeutic advances.
Systemic lupus erythematosus (SLE) is a severe autoimmune disease characterized by the presence of nucleic acid- and protein-targeting autoantibodies and an aberrant type I IFN expression signature. Aicardi-Goutières syndrome (AGS) is an autosomal-recessive encephalopathy in children that is characterized by mutations in numerous nucleic acid repair enzymes and elevated IFN levels. Phenotypical...
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Genome integrity is continuously challenged by the DNA damage that arises during normal cell metabolism. Biallelic mutations in the genes encoding the genome surveillance enzyme ribonuclease H2 (RNase H2) cause Aicardi-Goutières syndrome (AGS), a pediatric disorder that shares features with the autoimmune disease systemic lupus erythematosus (SLE). Here we determined that heterozygous parents o...
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