Article

The most common human ADAR1p150 Zα domain mutation P193A is well tolerated in mice and does not activate the integrated stress response pathway

2022-06-26

Abstract excerpt

<h4>Summary</h4> 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, broadly 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. We repor...

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Literature Corpus work: 741ccefa-3d9a-5800-a41d-497cb2be0c7b
DOI: 10.1101/2022.06.24.497437

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