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Article

Aicardi-Goutières syndrome-associated mutation at ADAR1 gene locus activates innate immune response in mouse brain.

Journal of neuroinflammation - 31 Jul 2021

Guo Xinfeng, Wiley Clayton A, Steinman Richard A, Sheng Yi, Ji Beihong, Wang Junmei, Zhang Liyong, Wang Tony, Zenatai Mazen, Billiar Timothy R, Wang Qingde

Abstract excerpt

BACKGROUND: Aicardi-Goutières syndrome (AGS) is a severe infant or juvenile-onset autoimmune disease characterized by inflammatory encephalopathy with an elevated type 1 interferon-stimulated gene (ISG) expression signature in the brain. Mutations in seven different protein-coding genes, all linked to DNA/RNA metabolism or sensing, have been identified in AGS patients, but none of them has been demonstrated to...

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Identifiers

PMID: 34332594
DOI: 10.1186/s12974-021-02217-9
PMCID: PMC8325854

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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