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https://www.readbyqxmd.com/read/28089741/inflammatory-myopathy-in-a-patient-with-aicardi-gouti%C3%A3-res-syndrome
#1
Birutė Tumienė, Norine Voisin, Eglė Preikšaitienė, Donatas Petroška, Jurgita Grikinienė, Rūta Samaitienė, Algirdas Utkus, Alexandre Reymond, Vaidutis Kučinskas
Aicardi-Goutières syndrome (AGS) is an inflammatory disorder belonging to the recently characterized group of type I interferonopathies. The most consistently affected tissues in AGS are the central nervous system and skin, but various organ systems and tissues have been reported to be affected, pointing to the systemic nature of the disease. Here we describe a patient with AGS due to a homozygous p.Arg114His mutation in the TREX1 gene. The histologically proven inflammatory myopathy in our patient expands the range of clinical features of AGS...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28069950/chronic-innate-immune-activation-of-tbk1-suppresses-mtorc1-activity-and-dysregulates-cellular-metabolism
#2
Maroof Hasan, Vijay K Gonugunta, Nicole Dobbs, Aktar Ali, Guillermo Palchik, Maria A Calvaruso, Ralph J DeBerardinis, Nan Yan
Three-prime repair exonuclease 1 knockout (Trex1(-/-)) mice suffer from systemic inflammation caused largely by chronic activation of the cyclic GMP-AMP synthase-stimulator of interferon genes-TANK-binding kinase-interferon regulatory factor 3 (cGAS-STING-TBK1-IRF3) signaling pathway. We showed previously that Trex1-deficient cells have reduced mammalian target of rapamycin complex 1 (mTORC1) activity, although the underlying mechanism is unclear. Here, we performed detailed metabolic analysis in Trex1(-/-) mice and cells that revealed both cellular and systemic metabolic defects, including reduced mitochondrial respiration and increased glycolysis, energy expenditure, and fat metabolism...
January 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28013302/trex1-mutation-in-leukodystrophy-with-calcifications-and-persistent-gadolinium-enhancement
#3
Clarisse Carra-Dalliere, Xavier Ayrignac, Carol Prieto-Morin, Philippe Girard, Elisabeth Tournier-Lasserve, Pierre Labauge
No abstract text is available yet for this article.
December 24, 2016: European Neurology
https://www.readbyqxmd.com/read/27988520/dna-sensing-and-nuclease-gene-expressions-as-markers-for-colorectal-cancer-progression
#4
Chin-An Yang, Hsi-Yuan Huang, Ya-Sian Chang, Chia-Li Lin, I-Lu Lai, Jan-Gowth Chang
OBJECTIVE: Oncogene-driven stress-related DNA damage has been observed in lesions of colon cancer. Furthermore, DNA sensors and nucleases are stimulated during active DNA damage and replication. However, their changes and influences with respect to cancer remain largely unknown. METHODS: The gene expression levels of cGAS, IFI16, STING, TBK1, IFNB1, TREX1, SAMHD1, RNASEH2A, RNASEH2B, and RNASEH2C were examined in the paired colorectal cancer and adjacent normal part tissues of 53 patients...
2017: Oncology
https://www.readbyqxmd.com/read/27886180/microrna-regulation-of-endothelial-trex1-reprograms-the-tumour-microenvironment
#5
RaeAnna Wilson, Cristina Espinosa-Diez, Nathan Kanner, Namita Chatterjee, Rebecca Ruhl, Christina Hipfinger, Sunil J Advani, Jie Li, Omar F Khan, Aleksandra Franovic, Sara M Weis, Sushil Kumar, Lisa M Coussens, Daniel G Anderson, Clark C Chen, David A Cheresh, Sudarshan Anand
Rather than targeting tumour cells directly, elements of the tumour microenvironment can be modulated to sensitize tumours to the effects of therapy. Here we report a unique mechanism by which ectopic microRNA-103 can manipulate tumour-associated endothelial cells to enhance tumour cell death. Using gain-and-loss of function approaches, we show that miR-103 exacerbates DNA damage and inhibits angiogenesis in vitro and in vivo. Local, systemic or vascular-targeted delivery of miR-103 in tumour-bearing mice decreased angiogenesis and tumour growth...
November 25, 2016: Nature Communications
https://www.readbyqxmd.com/read/27884288/trex-through-cutaneous-health%C3%A2-and%C3%A2-disease
#6
Alicia R Mathers
TREX1 and 2 are exonucleases that repair and degrade DNA. Degradation of DNA is involved in maintaining the integrity of the epidermis. The importance of these enzymes to cutaneous integrity is observed when TREX1 and TREX2 pathways become aberrant, and autoimmune or cancerous diseases ensue. Manils et al. have now shown that overexpression of TREX2 may play a role in potentiating psoriasis. Thus, these pathways are likely targets for novel therapeutics.
December 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27881153/verification-of-trex1-as-a-promising-indicator-of-judging-the-prognosis-of-osteosarcoma
#7
Jinyi Feng, Ruilong Lan, Guanxiong Cai, Jinluan Lin, Xinwen Wang, Jianhua Lin, Deping Han
BACKGROUND: The study aimed to explore the correlation between the expression of TREX1 and the metastasis and the survival time of patients with osteosarcoma as well as biological characteristics of osteosarcoma cells for the prognosis judgment of osteosarcoma. METHOD: The correlation between the expression of TREX1 protein and the occurrence of pulmonary metastasis in 45 cases of osteosarcoma was analyzed. The CD133(+) and CD133(-) cell subsets of osteosarcoma stem cells were sorted by the flow cytometry...
November 24, 2016: Journal of Orthopaedic Surgery and Research
https://www.readbyqxmd.com/read/27812953/monogenic-lupus
#8
REVIEW
Mindy S Lo
PURPOSE OF REVIEW: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease known for its clinical heterogeneity. Over time, new insights into the complex genetic origin of SLE have started to explain some of this clinical variability. These findings, reviewed here, have also yielded important understanding in the immune mechanisms behind SLE pathogenesis. RECENT FINDINGS: Several new monogenic disorders with lupus-like phenotype have been described...
December 2016: Current Rheumatology Reports
https://www.readbyqxmd.com/read/27773153/sporadic-case-of-retinal-vasculopathy-with-cerebral-leukodystrophy-hereditary-endotheliopathy-retinopathy-nephropathy-stroke-with-novel-trex1-mutation
#9
Bonnie Scurry, Thomas Wellings, Himanshu Goel, Anja Pluschke
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27773052/identification-of-a-pathogenic-variant-in-trex1-in-early-onset-cerebral-sle-by-whole-exome-sequencing
#10
Julia I Ellyard, Rebekka Jerjen, Jaime L Martin, Adrian Lee, Matthew A Field, Simon H Jiang, Jean Cappello, Svenja K Naumann, T Daniel Andrews, Hamish S Scott, Marco G Casarotto, Christopher C Goodnow, Jeffrey Chaitow, Virginia Pascual, Paul Hertzog, Stephen I Alexander, Matthew C Cook, Carola G Vinuesa
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27643693/neurologic-phenotypes-associated-with-mutations-in-trex1-rnaseh2a-rnaseh2b-rnaseh2c-samhd1-adar1-and-ifih1-aicardi-gouti%C3%A3-res-syndrome-and-beyond
#11
John H Livingston, Yanick J Crow
The Aicardi-Goutières syndrome (AGS) was first described in 1984, and over the following years was defined by the clinical and radiological features of an early onset, severe, neurologic disorder with intracranial calcification, leukoencephalopathy, and cerebral atrophy, usually associated with a cerebrospinal fluid (CSF) pleocytosis and elevated CSF interferon α activity. It is now recognized that mutations in any of the following seven genes may result in the classical AGS phenotype: TREX1 (AGS1), RNASEH2A (AGS2), RNASEH2B (AGS3), RNASEH2C (AGS4), SAMHD1 (AGS5), ADAR1 (AGS6), and IFIH1 (AGS7)...
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27604306/retinal-vasculopathy-with-cerebral-leukoencephalopathy-and-systemic-manifestations
#12
Anine H Stam, Parul H Kothari, Aisha Shaikh, Andreas Gschwendter, Joanna C Jen, Suzanne Hodgkinson, Todd A Hardy, Michael Hayes, Peter A Kempster, Katya E Kotschet, Ingeborg M Bajema, Sjoerd G van Duinen, Marion L C Maat-Schieman, Paulus T V M de Jong, Marc D de Smet, Didi de Wolff-Rouendaal, Greet Dijkman, Nadine Pelzer, Grant R Kolar, Robert E Schmidt, JoAnne Lacey, Daniel Joseph, David R Fintak, M Gilbert Grand, Elizabeth M Brunt, Helen Liapis, Rula A Hajj-Ali, Mark C Kruit, Mark A van Buchem, Martin Dichgans, Rune R Frants, Arn M J M van den Maagdenberg, Joost Haan, Robert W Baloh, John P Atkinson, Gisela M Terwindt, Michel D Ferrari
Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy, retinopathy, nephropathy and stroke are neurovascular syndromes initially described as distinct entities. Recently they were shown to be one disease caused by C-terminal frame-shift mutations in TREX1, which was termed 'retinal vasculopathy with cerebral leukodystrophy'. Here we defined the genetic and clinicopathologic spectrum of this clinically and pathophysiologically poorly characterized and frequently misdiagnosed fatal neurovascular disorder...
September 6, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27574969/a-synonymous-variant-in-trex1-is-associated-with-systemic-sclerosis-and-severe-digital-ischaemia
#13
M Hughes, J Little, A L Herrick, S Pushpakom, H Byers, J Worthington, W G Newman
No abstract text is available yet for this article.
January 2017: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/27566796/familial-chilblain-lupus-due-to-a-gain-of-function-mutation-in-sting
#14
Nadja König, Christoph Fiehn, Christine Wolf, Max Schuster, Emanuel Cura Costa, Victoria Tüngler, Hugo Ariel Alvarez, Osvaldo Chara, Kerstin Engel, Raphaela Goldbach-Mansky, Claudia Günther, Min Ae Lee-Kirsch
OBJECTIVES: Familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus caused by loss-of-function mutations in the nucleases TREX1 or SAMHD1. In a family without TREX1 or SAMHD1 mutation, we sought to determine the causative gene and the underlying disease pathology. METHODS: Exome sequencing was used for disease gene identification. Structural analysis was performed by homology modelling and docking simulations. Type I interferon (IFN) activation was assessed in cells transfected with STING cDNA using an IFN-β reporter and Western blotting...
August 26, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27525044/restricting-retrotransposons-a-review
#15
REVIEW
John L Goodier
Retrotransposons have generated about 40 % of the human genome. This review examines the strategies the cell has evolved to coexist with these genomic "parasites", focussing on the non-long terminal repeat retrotransposons of humans and mice. Some of the restriction factors for retrotransposition, including the APOBECs, MOV10, RNASEL, SAMHD1, TREX1, and ZAP, also limit replication of retroviruses, including HIV, and are part of the intrinsic immune system of the cell. Many of these proteins act in the cytoplasm to degrade retroelement RNA or inhibit its translation...
2016: Mobile DNA
https://www.readbyqxmd.com/read/27511730/loss-of-trex1-in-dendritic-cells-is-sufficient-to-trigger-systemic-autoimmunity
#16
Katrin Peschke, Martin Achleitner, Kathrin Frenzel, Alexander Gerbaulet, Servi Remzi Ada, Nicolas Zeller, Stefan Lienenklaus, Mathias Lesche, Claire Poulet, Ronald Naumann, Andreas Dahl, Ursula Ravens, Claudia Günther, Werner Müller, Klaus-Peter Knobeloch, Marco Prinz, Axel Roers, Rayk Behrendt
Defects of the intracellular enzyme 3' repair exonuclease 1 (Trex1) cause the rare autoimmune condition Aicardi-Goutières syndrome and are associated with systemic lupus erythematosus. Trex1(-/-) mice develop type I IFN-driven autoimmunity, resulting from activation of the cytoplasmic DNA sensor cyclic GMP-AMP synthase by a nucleic acid substrate of Trex1 that remains unknown. To identify cell types responsible for initiation of autoimmunity, we generated conditional Trex1 knockout mice. Loss of Trex1 in dendritic cells was sufficient to cause IFN release and autoimmunity, whereas Trex1-deficient keratinocytes and microglia produced IFN but did not induce inflammation...
September 15, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/27496731/the-aim2-like-receptors-are-dispensable-for-the-interferon-response-to-intracellular-dna
#17
Elizabeth E Gray, Damion Winship, Jessica M Snyder, Stephanie J Child, Adam P Geballe, Daniel B Stetson
Detection of intracellular DNA triggers activation of the STING-dependent interferon-stimulatory DNA (ISD) pathway, which is essential for antiviral responses. Multiple DNA sensors have been proposed to activate this pathway, including AIM2-like receptors (ALRs). Whether the ALRs are essential for activation of this pathway remains unknown. To rigorously explore the function of ALRs, we generated mice lacking all 13 ALR genes. We found that ALRs are dispensable for the type I interferon (IFN) response to transfected DNA ligands, DNA virus infection, and lentivirus infection...
August 16, 2016: Immunity
https://www.readbyqxmd.com/read/27411419/clinical-and-neuroradiologic-variability-of-aicardi-gouti%C3%A3-res-syndrome-two-siblings-with-rnaseh2c-mutation-and-a-boy-with-trex1-mutation
#18
Emek Uyur Yalçın, Hülya Maraş Genç, Bülent Kara
Aicardi-Goutières syndrome (AGS) is a rare, autosomal recessively inherited, immune-mediated neurodevelopmental disorder. The syndrome causes infantile-onset progressive encephalopathy characterized by the neuroradiologic features of basal ganglia and periventricular white matter calcification, leucodystrophy and cerebral atrophy. Lymphocytosis and elevated levels of interferon alpha (IFN-alpha) in the cerebrospinal fluid are supplementary findings of AGS. It is frequently misdiagnosed as sequelae of congenital infection (pseudo-TORCH) and mostly recognized later...
September 2015: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27348862/icp35-is-a-trex-like-protein-identified-in-white-spot-syndrome-virus
#19
Panapat Phairoh, Thana Suthibatpong, Triwit Rattanarojpong, Nujarin Jongruja, Saengchan Senapin, Kiattawee Choowongkomon, Pongsak Khunrae
ICP35 is a non-structural protein from White spot syndrome virus believed to be important in viral replication. Since ICP35 was found to localize in the host nucleus, it has been speculated that the function of ICP35 might be involved in the interaction of DNA. In this study, we overexpressed, purified and characterized ICP35. The thioredoxin-fused ICP35 (thio-ICP35) was strongly expressed in E. coli and be able to form itself into dimers. Investigation of the interaction between ICP35 and DNA revealed that ICP35 can perform DNase activity...
2016: PloS One
https://www.readbyqxmd.com/read/27230542/rpa-and-rad51-constitute-a-cell-intrinsic-mechanism-to-protect-the-cytosol-from-self-dna
#20
Christine Wolf, Alexander Rapp, Nicole Berndt, Wolfgang Staroske, Max Schuster, Manuela Dobrick-Mattheuer, Stefanie Kretschmer, Nadja König, Thomas Kurth, Dagmar Wieczorek, Karin Kast, M Cristina Cardoso, Claudia Günther, Min Ae Lee-Kirsch
Immune recognition of cytosolic DNA represents a central antiviral defence mechanism. Within the host, short single-stranded DNA (ssDNA) continuously arises during the repair of DNA damage induced by endogenous and environmental genotoxic stress. Here we show that short ssDNA traverses the nuclear membrane, but is drawn into the nucleus by binding to the DNA replication and repair factors RPA and Rad51. Knockdown of RPA and Rad51 enhances cytosolic leakage of ssDNA resulting in cGAS-dependent type I IFN activation...
2016: Nature Communications
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