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Article

Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.

The Journal of biological chemistry - 13 May 2011

Coffin Stephanie R, Hollis Thomas, Perrino Fred W

Abstract excerpt

Mutations in the three genes encoding the heterotrimeric RNase H2 complex cause Aicardi-Goutières Syndrome (AGS). Our mouse RNase H2 structure revealed that the catalytic RNase H2A subunit interfaces mostly with the RNase H2C subunit that is intricately interwoven with the RNase H2B subunit. We mapped the positions of AGS-causing RNase H2A mutations using the mouse RNase H2 structure and proposed that these...

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Identifiers

PMID: 21454563
DOI: 10.1074/jbc.M111.228833
PMCID: PMC3089542

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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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