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Article

ADAR RNA editing in human disease; more to it than meets the I.

Human genetics - 1 Sept 2017

Gallo Angela, Vukic Dragana, Michalík David, O'Connell Mary A, Keegan Liam P

Abstract excerpt

We review the structures and functions of ADARs and their involvements in human diseases. ADAR1 is widely expressed, particularly in the myeloid component of the blood system, and plays a prominent role in promiscuous editing of long dsRNA. Missense mutations that change ADAR1 residues and reduce RNA editing activity cause Aicardi-Goutières Syndrome, a childhood encephalitis and interferonopathy that mimics viral...

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Source

Identifiers

PMID: 28913566
DOI: 10.1007/s00439-017-1837-0

Genes

ADAR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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