Associated Papers
Oligoprotein type I interferon signatures, but not TREX1 variants, increase risk of systemic lupus erythematosus in UK Biobank.
Rioux B et al.
Nature Communications, 2026
TREX1 exonuclease in immunity and disease.
Shang Z et al.
International Immunology, 2025
Prevalence and impact of molecular variation in the three-prime repair exonuclease 1 TREX1 and its implications for oncology.
Shekfeh M et al.
Human Genomics, 2025
The SLE-associated TREX1-P212fs mutation disrupts ER association leading to type I interferonopathy.
Xu S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.
Hofer MJ et al.
Immunological Reviews, 2024
Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans.
Chauvin SD et al.
Nature Communications, 2024
Aicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum.
Tasharrofi B et al.
Iranian Journal of Child Neurology, 2024
Aicardi-Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation.
Świerczyńska M et al.
Journal of Personalized Medicine, 2023
Human iPSC-Derived Astrocytes: A Powerful Tool to Study Primary Astrocyte Dysfunction in the Pathogenesis of Rare Leukodystrophies.
Lanciotti A et al.
International Journal of Molecular Sciences, 2021
LINE-1 retrotransposons in healthy and diseased human brain.
Suarez NA et al.
Developmental Neurobiology, 2018
Modeling of TREX1-Dependent Autoimmune Disease using Human Stem Cells Highlights L1 Accumulation as a Source of Neuroinflammation.
Thomas CA et al.
Cell Stem Cell, 2017
Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion.
Li P et al.
Nucleic Acids Research, 2017
RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA.
Wolf C et al.
Nature Communications, 2016
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ et al.
American Journal of Medical Genetics. Part A, 2015
Rare variants in the TREX1 gene and susceptibility to autoimmune diseases.
Barizzone N et al.
Biomed Research International, 2013
Aicardi-Goutières syndrome with emphasis on sonographic features in infancy.
Rossler L et al.
Pediatric Radiology, 2012
Defects in DNA degradation revealed in crystal structures of TREX1 exonuclease mutations linked to autoimmune disease.
Bailey SL et al.
Dna Repair, 2012
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.
Namjou B et al.
Genes and Immunity, 2011
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.
Crow YJ et al.
Human Molecular Genetics, 2009
Trex1 prevents cell-intrinsic initiation of autoimmunity.
Stetson DB et al.
Cell, 2008
New roles for the major human 3'-5' exonuclease TREX1 in human disease.
Kavanagh D et al.
Cell Cycle (georgetown, Tex.), 2008
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
Richards A et al.
Nature Genetics, 2007
Structure of the dimeric exonuclease TREX1 in complex with DNA displays a proline-rich binding site for WW Domains.
Brucet M et al.
The Journal of Biological Chemistry, 2007
The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering.
de Silva U et al.
The Journal of Biological Chemistry, 2007
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Crow YJ et al.
Nature Genetics, 2006