Therapies in Aicardi-Goutières syndrome

Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation inRNASEH2C

(2013) Julie Vogt et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

(2012) Alevtina Gall et al.   IMMUNITY

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

(2012) Gillian I Rice et al.   NATURE GENETICS

SAMHD1 restricts HIV-1 infection in resting CD4+ T cells

(2012) Hanna-Mari Baldauf et al.   NATURE MEDICINE

Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus

(2012) J. Abe et al.   RHEUMATOLOGY

Type I interferonopathies: a novel set of inborn errors of immunity

(2011) Yanick J. Crow   Annals of the New York Academy of Sciences

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

Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations

(2011) M. du Moulin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

(2011) B. Xin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An autoimmune disease prevented by anti-retroviral drugs

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

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

LINE-1 Retrotransposition Activity in Human Genomes

(2010) Christine R. Beck et al.   CELL

Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome

(2010) Cheng Ran Lisa Huang et al.   CELL

Abortive HIV Infection Mediates CD4 T Cell Depletion and Inflammation in Human Lymphoid Tissue

(2010) Gilad Doitsh et al.   CELL

Natural Mutagenesis of Human Genomes by Endogenous Retrotransposons

(2010) Rebecca C. Iskow et al.   CELL

Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

(2010) VENKATESWARAN RAMESH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression

(2010) Holger Thiele et al.   HUMAN MUTATION

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

(2010) Nan Yan et al.   NATURE IMMUNOLOGY

The enemy within: dormant retroviruses awaken

(2010) Michael E Engel et al.   NATURE MEDICINE

Aicardi-Goutières syndrome: description of a late onset case

(2009) Stefano D’Arrigo et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection

(2009) Yanick J Crow et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Ribonuclease H: the enzymes in eukaryotes

(2009) Susana M. Cerritelli et al.   FEBS Journal

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

(2009) Y. J. Crow et al.   HUMAN MOLECULAR GENETICS

Blue (or purple) toes: Chilblains or chilblain lupus-like lesions are a manifestation of Aicardi–Goutières syndrome and familial chilblain lupus

(2009) Julie S. Prendiville et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

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

(2009) Gillian I Rice et al.   NATURE GENETICS

Trex1 Prevents Cell-Intrinsic Initiation of Autoimmunity

(2008) Daniel B. Stetson et al.   CELL

Aicardi–Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy

(2008) S. Orcesi et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY