Associated Papers
TREX1 exonuclease in immunity and disease.
Shang Z et al.
International Immunology, 2025
Mouse models of type I interferonopathies.
Luca D et al.
Human Molecular Genetics, 2025
Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease.
McGlasson S et al.
Brain : a Journal of Neurology, 2025
The pathogenesis of cerebral small vessel disease and vascular cognitive impairment.
Markus HS et al.
Physiological Reviews, 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 induction of type I interferonopathy in Trex1-P212fs mice is mediated by activation of the cGAS-STING pathway.
Du H et al.
International Journal of Biological Macromolecules, 2025
The DNase TREX1 is a substrate of the intramembrane protease SPP with implications for disease pathogenesis.
Tever OK et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Exploring targeted therapy in retinal vasculopathy with cerebral leukoencephalopathy: a case report and review of literature.
Tato-Moreno P et al.
Frontiers in Immunology, 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
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations in conjunction with systemic lupus erythematosus: Missed diagnosis or misdiagnosis?
Wang X et al.
Immunity, Inflammation and Disease, 2024
Imbalance of the von Willebrand Factor - ADAMTS-13 axis in patients with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).
Braune M et al.
Neurological Research and Practice, 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
Kidney-Predominant Thrombotic Microangiopathy Associated With TREX1 Frameshift Mutation.
Song ZR et al.
Kidney International Reports, 2023
Suppression of TREX1 deficiency-induced cellular senescence and interferonopathies by inhibition of DNA damage response.
Du H et al.
Iscience, 2023
Genetics of migraine: Delineation of contemporary understanding of the genetic underpinning of migraine.
de Boer I et al.
Handbook of Clinical Neurology, 2023
Intracellular Sensing of DNA in Autoinflammation and Autoimmunity.
MacLauchlan S et al.
Arthritis & Rheumatology (hoboken, N.j.), 2022
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations (RVCL-S): An update on basic science and clinical perspectives.
Wilms AE et al.
Cerebral Circulation - Cognition and Behavior, 2022
ER-directed TREX1 limits cGAS activation at micronuclei.
Mohr L et al.
Molecular Cell, 2021
High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).
Xie N et al.
Orphanet Journal of Rare Diseases, 2021
Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy.
Ford AL et al.
Neurology, 2020
Genetics of migraine aura: an update.
de Boer I et al.
The Journal of Headache and Pain, 2020
Increased Mortality and Vascular Phenotype in a Knock-In Mouse Model of Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations.
Mulder IA et al.
Stroke, 2020
Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease.
Pelzer N et al.
Journal of Internal Medicine, 2019
TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia.
Kothari PH et al.
Brain Pathology (zurich, Switzerland), 2018
DNase-active TREX1 frame-shift mutants induce serologic autoimmunity in mice.
Sakai T et al.
Journal of Autoimmunity, 2017
Genetics of Migraine: Insights into the Molecular Basis of Migraine Disorders.
Sutherland HG et al.
Headache, 2017
Mitotic Phosphorylation of TREX1 C Terminus Disrupts TREX1 Regulation of the Oligosaccharyltransferase Complex.
Kucej M et al.
Cell Reports, 2017
MicroRNA regulation of endothelial TREX1 reprograms the tumour microenvironment.
Wilson R et al.
Nature Communications, 2016
A 44-year-old man with eye, kidney, and brain dysfunction.
Vodopivec I et al.
Annals of Neurology, 2016
Cytosolic Nuclease TREX1 Regulates Oligosaccharyltransferase Activity Independent of Nuclease Activity to Suppress Immune Activation.
Hasan M et al.
Immunity, 2015
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.
DiFrancesco JC et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
Migraine pathophysiology: lessons from mouse models and human genetics.
Ferrari MD et al.
The Lancet. Neurology, 2015
Rare variants in the TREX1 gene and susceptibility to autoimmune diseases.
Barizzone N et al.
Biomed Research International, 2013
Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation.
Mateen FJ et al.
Neurology, 2010
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.
Crow YJ et al.
Human Molecular Genetics, 2009
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