An ags-associated mutation in adar1 catalytic domain results in early-onset and mda5-dependent encephalopathy with ifn pathway activation in the brain

HIGHLIGHTS

• who: Xinfeng Guo from the Department of Surgery, University of Pittsburgh School of Medicine, Lothrop Street, Pittsburgh, PA, USA have published the research: An AGS-associated mutation in ADAR1 catalytic domain results in early-onset and MDA5-dependent encephalopathy with IFN pathway activation in the brain, in the Journal: (JOURNAL)
• what: The authors report a novel mouse model that better resembles the genetic and phenotypic features of AGS. The authors report a novel AGS mouse model in which a single nucleotide replacement encoding an Adar D1113H mutation in the catalytic domain of ADAR1 resulted in . . .
  

   

  

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