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Aicardi-Goutières Syndrome Associated <i>ADAR</i> G1007R mutation dominantly induces neuroinflammation in mouse brain

2025-04-21

Abstract excerpt

The ADAR G 1007 R mutation is one of the most frequent mutations found in type six Aicardi-Goutières Syndrome (AGS), a severe inflammatory encephalopathy in pediatric patients. We report here a mouse model bearing an human equivalent ADAR G 1007 R mutation, and the heterozygous mice recapitulated some pathologic features of ADAR G 1007 R AGS patients, including early-onset brain inflammation in heterozygous...

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Literature Corpus work
b5f73199-65b9-58cb-a16f-18bfa2671841
DOI
10.1101/2025.04.21.649787
Open publication

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Aicardi-Goutières Syndrome Associated <i>ADAR</i> G1007R mutation dominantly induces neuroinflammation in mouse brainDOI 10.1101/2025.04.21.649787
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