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

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

Abstract Background Aicardi–Goutières syndrome (AGS) is a severe neurodegenerative disease with clinical features of early-onset encephalopathy and progressive loss of intellectual abilities and motor control. Gene mutations in seven protein-coding genes have been found to be associated with AGS. Ho...

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Bibliographic Details
Main Authors: Xinfeng Guo, Richard A. Steinman, Yi Sheng, Guodong Cao, Clayton A. Wiley, Qingde Wang
Format: Article
Language:English
Published: BMC 2022-12-01
Series:Journal of Neuroinflammation
Subjects:
Aicardi–Goutières syndrome (AGS)
Neurodegeneration
Neuroinflammation
Innate immunity
ADAR1
Gene mutation
Online Access:https://doi.org/10.1186/s12974-022-02646-0

Internet

https://doi.org/10.1186/s12974-022-02646-0

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