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Article

An Aicardi-Goutières Syndrome-Causative Point Mutation in Adar1 Gene Invokes Multiorgan Inflammation and Late-Onset Encephalopathy in Mice.

Journal of immunology (Baltimore, Md. : 1950) - 15 Dec 2021

Inoue Maal, Nakahama Taisuke, Yamasaki Ryuichiro, Shibuya Toshiharu, Kim Jung In, Todo Hiroyuki, Xing Yanfang, Kato Yuki, Morii Eiichi, Kawahara Yukio

Abstract excerpt

Aicardi-Goutières syndrome (AGS) is a congenital inflammatory disorder accompanied by overactivated type I IFN signaling and encephalopathy with leukodystrophy and intracranial calcification. To date, none of the mouse models carrying an AGS-causative mutation has mimicked such brain pathology. Here, we established a mutant mouse model carrying a K948N point mutation, corresponding to an AGS-causative K999N...

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Identifiers

PMID: 34772697
DOI: 10.4049/jimmunol.2100526

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An Aicardi-Goutières Syndrome-Causative Point Mutation in Adar1 Gene Invokes Multiorgan Inflammation and Late-Onset Encephalopathy in Mice.PMID 34772697Read ↗

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