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Article

DNase-active TREX1 frame-shift mutants induce serologic autoimmunity in mice.

Journal of autoimmunity - 1 Jul 2017

Sakai Tomomi, Miyazaki Takuya, Shin Dong-Mi, Kim Yong-Soo, Qi Chen-Feng, Fariss Robert, Munasinghe Jeeva, Wang Hongsheng, Kovalchuk Alexander L, Kothari Parul H, Fermaintt Charles S, Atkinson John P, Perrino Fred W, Yan Nan, Morse Herbert C

Abstract excerpt

TREX1/DNASE III, the most abundant 3'-5' DNA exonuclease in mammalian cells, is tail-anchored on the endoplasmic reticulum (ER). Mutations at the N-terminus affecting TREX1 DNase activity are associated with autoimmune and inflammatory conditions such as Aicardi-Goutières syndrome (AGS). Mutations in the C-terminus of TREX1 cause loss of localization to the ER and dysregulation of oligosaccharyltransferase (OST)...

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Source

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Identifiers

PMID: 28325644
DOI: 10.1016/j.jaut.2017.03.001
PMCID: PMC5558601

Genes

TREX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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DNase-active TREX1 frame-shift mutants induce serologic autoimmunity in mice.PMID 28325644Read ↗

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