Article
The phenotype of the most common human ADAR1p150 Zα mutation P193A in mice is partially penetrant.
EMBO reports - 4 May 2023
Liang Zhen, Chalk Alistair M, Taylor Scott, Goradia Ankita, Heraud-Farlow Jacki E, Walkley Carl R
Abstract excerpt
ADAR1 -mediated A-to-I RNA editing is a self-/non-self-discrimination mechanism for cellular double-stranded RNAs. ADAR mutations are one cause of Aicardi-Goutières Syndrome, an inherited paediatric encephalopathy, classed as a "Type I interferonopathy." The most common ADAR1 mutation is a proline 193 alanine (p.P193A) mutation, mapping to the ADAR1p150 isoform-specific Zα domain. Here, we report the development...
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