Article

An AGS-associated mutation in ADAR1 catalytic domain causes early-onset and MDA5- dependent encephalopathy with IFN pathway activation in the brain

2022-07-15

Abstract excerpt

<h4>Background: </h4> Aicardi-Goutières syndrome (AGS) is a severe autoimmune disease characterized by inflammatory encephalopathy with an elevated Type 1 interferon-stimulated gene (ISG) expression signature in the brain. It is featured by early-onset encephalopathy and progressive loss of intellectual abilities and motor control. Gene mutations in 7 protein-coding genes were found to be associated with AGS. Howe...

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Literature Corpus work: c73e1d36-a8a9-5ddc-b1af-78afb89f7962
DOI: 10.21203/rs.3.rs-1643638/v1

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