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Article

Defects in DNA degradation revealed in crystal structures of TREX1 exonuclease mutations linked to autoimmune disease.

DNA repair - 2 Jan 2012

Bailey Suzanna L, Harvey Scott, Perrino Fred W, Hollis Thomas

Abstract excerpt

Mutations within the human TREX1 3' exonuclease are associated with Aicardi-Goutières Syndrome (AGS) and familial chilblain lupus (FCL). Both AGS and FCL are autoimmune diseases that result in increased levels of interferon alpha and circulating antibodies to DNA. TREX1 is a member of the endoplasmic reticulum (ER)-associated SET complex and participates in granzyme A-mediated cell death to degrade nicked genomic...

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Source

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Identifiers

PMID: 22071149
DOI: 10.1016/j.dnarep.2011.10.007
PMCID: PMC3253924

Genes

TREX1
SET

Variants

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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