Aicardi-Goutières syndrome: a model disease for systemic autoimmunity

The Retroviral Restriction Ability of SAMHD1, but Not Its Deoxynucleotide Triphosphohydrolase Activity, Is Regulated by Phosphorylation

(2013) Tommy E. White et al.   Cell Host & Microbe

Nuclease Activity of the Human SAMHD1 Protein Implicated in the Aicardi-Goutières Syndrome and HIV-1 Restriction

(2013) Natalia Beloglazova et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular Basis of DNA Recognition in the Immune System

(2013) M. K. Atianand et al.   JOURNAL OF IMMUNOLOGY

Single-stranded nucleic acids promote SAMHD1 complex formation

(2013) Victoria Tüngler et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Phosphorylation of SAMHD1 by Cyclin A2/CDK1 Regulates Its Restriction Activity toward HIV-1

(2013) Alexandra Cribier et al.   Cell Reports

Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome

(2012) V. Tüngler et al.   BRITISH JOURNAL OF DERMATOLOGY

Enzymatic Removal of Ribonucleotides from DNA Is Essential for Mammalian Genome Integrity and Development

(2012) Martin A.M. Reijns et al.   CELL

Active human retrotransposons: variation and disease

(2012) Dustin C Hancks et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations

(2012) Adriana Goncalves et al.   HUMAN MUTATION

Nucleic Acid-Sensing Toll-like Receptors Are Essential for the Control of Endogenous Retrovirus Viremia and ERV-Induced Tumors

(2012) Philipp Yu et al.   IMMUNITY

Autoimmunity Initiates in Nonhematopoietic Cells and Progresses via Lymphocytes in an Interferon-Dependent Autoimmune Disease

(2012) Alevtina Gall et al.   IMMUNITY

Mammalian RNase H2 removes ribonucleotides from DNA to maintain genome integrity

(2012) Bjoern Hiller et al.   JOURNAL OF EXPERIMENTAL MEDICINE

RNase H2-Initiated Ribonucleotide Excision Repair

(2012) Justin L. Sparks et al.   MOLECULAR CELL

CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation

(2012) Nataly Manjarrez-Orduño et al.   NATURE GENETICS

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

(2012) Gillian I Rice et al.   NATURE GENETICS

Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes

(2012) Maroof Hasan et al.   NATURE IMMUNOLOGY

SAMHD1 restricts the replication of human immunodeficiency virus type 1 by depleting the intracellular pool of deoxynucleoside triphosphates

(2012) Hichem Lahouassa et al.   NATURE IMMUNOLOGY

Cyclic GMP-AMP Synthase Is a Cytosolic DNA Sensor That Activates the Type I Interferon Pathway

(2012) L. Sun et al.   SCIENCE

Belimumab Is Approved by the FDA: What More Do We Need to Know to Optimize Decision Making?

(2012) Diane Lewis Horowitz et al.   Current Rheumatology Reports

RNA editing catalyzed by ADAR1 and its function in mammalian cells

(2011) Qingde Wang   BIOCHEMISTRY-MOSCOW

Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort

(2011) B Namjou et al.   GENES AND IMMUNITY

HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase

(2011) David C. Goldstone et al.   NATURE

SAMHD1 is the dendritic- and myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx

(2011) Nadine Laguette et al.   NATURE

Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein

(2011) Kasia Hrecka et al.   NATURE

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

(2011) Sulaiman M Al-Mayouf et al.   NATURE GENETICS

PCNA directs type 2 RNase H activity on DNA replication and repair substrates

(2011) Doryen Bubeck et al.   NUCLEIC ACIDS RESEARCH

An autoimmune disease prevented by anti-retroviral drugs

(2011) Gabriele B Beck-Engeser et al.   Retrovirology

Mutagenic Processing of Ribonucleotides in DNA by Yeast Topoisomerase I

(2011) N. Kim et al.   SCIENCE

Adenosine deaminases acting on RNA (ADARs) are both antiviral and proviral

(2011) Charles E. Samuel   VIROLOGY

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome

(2010) Charlotte A. Haaxma et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

(2010) Jane C. Ravenscroft et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Type I interferon system activation and association with disease manifestations in systemic sclerosis

(2010) M.-L. Eloranta et al.   ANNALS OF THE RHEUMATIC DISEASES

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

(2010) Georgia Ramantani et al.   ARTHRITIS AND RHEUMATISM

Advances in drug therapy for systemic lupus erythematosus

(2010) Daniel J Wallace   BMC Medicine

Activation of the type I interferon pathway in primary Sjogren’s syndrome

(2010) Clio P. Mavragani et al.   JOURNAL OF AUTOIMMUNITY

Genome instability due to ribonucleotide incorporation into DNA

(2010) Stephanie A Nick McElhinny et al.   Nature Chemical Biology

The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1

(2010) Nan Yan et al.   NATURE IMMUNOLOGY

Autoimmune polyglandular syndromes

(2010) Aaron W. Michels et al.   Nature Reviews Endocrinology

Genetics of SLE: evidence from mouse models

(2010) Laurence Morel   Nature Reviews Rheumatology

Prevalence and burden of pediatric-onset systemic lupus erythematosus

(2010) Sylvia Kamphuis et al.   Nature Reviews Rheumatology

TREX1 gene variant in neuropsychiatric systemic lupus erythematosus

(2009) B. de Vries et al.   ANNALS OF THE RHEUMATIC DISEASES

Type I interferon and lupus

(2009) Lars Rönnblom et al.   CURRENT OPINION IN RHEUMATOLOGY

Why can't we find a new treatment for SLE?

(2009) Robert Eisenberg   JOURNAL OF AUTOIMMUNITY

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

(2009) Gillian I Rice et al.   NATURE GENETICS

Genetic susceptibility to SLE: new insights from fine mapping and genome-wide association studies

(2009) Isaac T. W. Harley et al.   NATURE REVIEWS GENETICS

Trex1 Prevents Cell-Intrinsic Initiation of Autoimmunity

(2008) Daniel B. Stetson et al.   CELL

A new function for the RNA-editing enzyme ADAR1

(2008) Hisashi Iizasa et al.   NATURE IMMUNOLOGY

Systemic Lupus Erythematosus

(2008) Anisur Rahman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex

(2008) Hyongi Chon et al.   NUCLEIC ACIDS RESEARCH