Associated Papers
Gene variants of interferon induced with helicase C domain 1 in Japanese patients with Dermatomyositis-associated rapidly progressive interstitial lung disease: a genetic association study using whole-exome and Sanger sequencing.
Okamoto M et al.
Respiratory Research, 2025
Mouse models of type I interferonopathies.
Luca D et al.
Human Molecular Genetics, 2025
USP8-Governed MDA5 Homeostasis Promotes Innate Immunity and Autoimmunity.
Zhang Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
ADAR1 haploinsufficiency and sustained picornaviral RdRp dsRNA synthesis synergize to dysregulate RNA editing and cause multi-system interferonopathy.
Miller CM et al.
Biorxiv : the Preprint Server for Biology, 2025
The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.
Hofer MJ et al.
Immunological Reviews, 2024
Aberrant RNA sensing in regulatory T cells causes systemic autoimmunity.
Luca D et al.
Science Advances, 2024
The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.
Stock AJ et al.
Biorxiv : the Preprint Server for Biology, 2024
The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.
Stock AJ et al.
Frontiers in Immunology, 2024
A zebrafish model of Ifih1-driven Aicardi-Goutières syndrome reproduces the interferon signature and the exacerbated inflammation of patients.
Bernal-Bermúdez B et al.
Frontiers in Immunology, 2023
Double-Stranded RNA Induces Mortality in an MDA5-Mediated Type I Interferonopathy Model.
Emralino FL et al.
Journal of Immunology (baltimore, Md. : 1950), 2022
Attenuation of regulatory T cell function by type I IFN signaling in an MDA5 gain-of-function mutant mouse model.
Lee S et al.
Biochemical and Biophysical Research Communications, 2022
Intracellular virus sensor MDA5 mutation develops autoimmune myocarditis and nephritis.
Ohto T et al.
Journal of Autoimmunity, 2022
Riok3 inhibits the antiviral immune response by facilitating TRIM40-mediated RIG-I and MDA5 degradation.
Shen Y et al.
Cell Reports, 2021
Viral RNA recognition by LGP2 and MDA5, and activation of signaling through step-by-step conformational changes.
Duic I et al.
Nucleic Acids Research, 2020
Singleton-Merten Syndrome-like Skeletal Abnormalities in Mice with Constitutively Activated MDA5.
Soda N et al.
Journal of Immunology (baltimore, Md. : 1950), 2019
R516Q mutation in Melanoma differentiation-associated protein 5 (MDA5) and its pathogenic role towards rare Singleton-Merten syndrome; a signature associated molecular dynamics study.
Raghuraman P et al.
Journal of Biomolecular Structure & Dynamics, 2019
Antiviral Adaptor MAVS Promotes Murine Lupus With a B Cell Autonomous Role.
Sun W et al.
Frontiers in Immunology, 2019
Cryo-EM Structures of MDA5-dsRNA Filaments at Different Stages of ATP Hydrolysis.
Yu Q et al.
Molecular Cell, 2018
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y et al.
Current Osteoporosis Reports, 2017
MAVS is not a Likely Susceptibility Locus for Addison's Disease and Type 1 Diabetes.
Zurawek M et al.
Archivum Immunologiae Et Therapiae Experimentalis, 2017
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.
Pettersson M et al.
American Journal of Medical Genetics. Part A, 2017
MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.
Buers I et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2017
Novel interferonopathies associated with mutations in RIG-I like receptors.
Buers I et al.
Cytokine & Growth Factor Reviews, 2016
LGP2 synergy with MDA5 in RLR-mediated RNA recognition and antiviral signaling.
Bruns AM et al.
Cytokine, 2015
Kinetic discrimination of self/non-self RNA by the ATPase activity of RIG-I and MDA5.
Louber J et al.
Bmc Biology, 2015
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
Rutsch F et al.
American Journal of Human Genetics, 2015
Cumulative effect of IFIH1 variants and increased gene expression associated with type 1 diabetes.
Zurawek M et al.
Diabetes Research and Clinical Practice, 2015
Aicardi-Goutières syndrome is caused by IFIH1 mutations.
Oda H et al.
American Journal of Human Genetics, 2014
Autoimmune disorders associated with gain of function of the intracellular sensor MDA5.
Funabiki M et al.
Immunity, 2014
Constitutive antiviral immunity at the expense of autoimmunity.
Todd JA
Immunity, 2014
Dysregulation of antiviral helicase pathways in systemic lupus erythematosus.
Oliveira L et al.
Frontiers in Genetics, 2014