Articles with "mutations adenosine" as a keyword



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Mutations in the adenosine deaminase ADAR1 that prevent endogenous Z-RNA binding induce Aicardi-Goutières-syndrome-like encephalopathy.

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Published in 2021 at "Immunity"

DOI: 10.1016/j.immuni.2021.08.022

Abstract: Mutations in the adenosine-to-inosine RNA-editing enzyme ADAR1 p150, including point mutations in the Z-RNA recognition domain Zα, are associated with Aicardi-Goutières syndrome (AGS). Here, we examined the in vivo relevance of ADAR1 binding of Z-RNA. Mutation… read more here.

Keywords: aicardi gouti; res syndrome; rna; rna binding ... See more keywords