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Article

The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.

The Journal of biological chemistry - 14 Nov 2008

Lehtinen Duane A, Harvey Scott, Mulcahy Matthew J, Hollis Thomas, Perrino Fred W

Abstract excerpt

Mutations in TREX1 have been linked to a spectrum of human autoimmune diseases including Aicardi-Goutières syndrome (AGS), familial chilblain lupus (FCL), systemic lupus erythematosus, and retinal vasculopathy and cerebral leukodystrophy. A common feature in these conditions is the frequent detection of antibodies to double-stranded DNA (dsDNA). TREX1 participates in a cell death process implicating this major 3'...

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Source

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Identifiers

PMID: 18805785
DOI: 10.1074/jbc.M806155200
PMCID: PMC2581595

Genes

TREX1

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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