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
Anifrolumab in Monogenic Lupus caused by TREX1 Mutation.
Moran-Alvarez P et al.
Journal of Clinical Immunology, 2024
Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.
Shim A et al.
Human Molecular Genetics, 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
Structural basis of human TREX1 DNA degradation and autoimmune disease.
Zhou W et al.
Nature Communications, 2022
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
Mitotic Phosphorylation of TREX1 C Terminus Disrupts TREX1 Regulation of the Oligosaccharyltransferase Complex.
Kucej M et al.
Cell Reports, 2017
Human disease phenotypes associated with mutations in TREX1.
Rice GI et al.
Journal of Clinical Immunology, 2015
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
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
Aicardi-Goutieres syndrome: from patients to genes and beyond.
Chahwan C et al.
Clinical Genetics, 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