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
Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.
Shim A et al.
Human Molecular Genetics, 2024
Targeting TREX1 Induces Innate Immune Response in Drug-Resistant Small-Cell Lung Cancer.
Murayama T et al.
Cancer Research Communications, 2024
Nucleotide metabolism, leukodystrophies, and CNS pathology.
Gavazzi F et al.
Journal of Inherited Metabolic Disease, 2024
The brain microvasculature is a primary mediator of interferon-α neurotoxicity in human cerebral interferonopathies.
Viengkhou B et al.
Immunity, 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
Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.
Shim A et al.
Biorxiv : the Preprint Server for Biology, 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
TREX-1-Related Disease Associated with the Presence of Cryofibrinogenemia.
Paradis C et al.
Journal of Clinical Immunology, 2019
Measuring TREX1 and TREX2 exonuclease activities.
Hemphill WO et al.
Methods in Enzymology, 2019
LINE-1 retrotransposons in healthy and diseased human brain.
Suarez NA et al.
Developmental Neurobiology, 2018
Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion.
Li P et al.
Nucleic Acids Research, 2017
Cytosolic Nuclease TREX1 Regulates Oligosaccharyltransferase Activity Independent of Nuclease Activity to Suppress Immune Activation.
Hasan M et al.
Immunity, 2015
Human DNA Exonuclease TREX1 Is Also an Exoribonuclease That Acts on Single-stranded RNA.
Yuan F et al.
The Journal of Biological Chemistry, 2015
Human disease phenotypes associated with mutations in TREX1.
Rice GI et al.
Journal of Clinical Immunology, 2015
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
Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by Whole-exome sequencing.
Ellyard JI et al.
Arthritis & Rheumatology (hoboken, N.j.), 2014
The Arg-62 residues of the TREX1 exonuclease act across the dimer interface contributing to catalysis in the opposing protomers.
Fye JM et al.
The Journal of Biological Chemistry, 2014
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
Abe J et al.
Rheumatology (oxford, England), 2014
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
Rice GI et al.
The Lancet. Neurology, 2013
The TREX1 C-terminal region controls cellular localization through ubiquitination.
Orebaugh CD et al.
The Journal of Biological Chemistry, 2013
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.
Abe J et al.
Rheumatology (oxford, England), 2013
Rare variants in the TREX1 gene and susceptibility to autoimmune diseases.
Barizzone N et al.
Biomed Research International, 2013
Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1.
Sugiura K et al.
The Journal of Investigative Dermatology, 2012
Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.
Tüngler V et al.
The British Journal of Dermatology, 2012
Defects in DNA degradation revealed in crystal structures of TREX1 exonuclease mutations linked to autoimmune disease.
Bailey SL et al.
Dna Repair, 2012
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.
Orebaugh CD et al.
The Journal of Biological Chemistry, 2011
Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome.
Fye JM et al.
The Journal of Biological Chemistry, 2011
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.
Namjou B et al.
Genes and Immunity, 2011
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
Haaxma CA et al.
American Journal of Medical Genetics. Part A, 2010
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
Ramantani G et al.
Arthritis and Rheumatism, 2010
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.
Crow YJ et al.
Human Molecular Genetics, 2009
The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
Lehtinen DA et al.
The Journal of Biological Chemistry, 2008
Trex1 prevents cell-intrinsic initiation of autoimmunity.
Stetson DB et al.
Cell, 2008
Chilblain lupus erythematosus--a review of literature.
Hedrich CM et al.
Clinical Rheumatology, 2008
New roles for the major human 3'-5' exonuclease TREX1 in human disease.
Kavanagh D et al.
Cell Cycle (georgetown, Tex.), 2008
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
Rice G et al.
American Journal of Human Genetics, 2007