Associated Papers
USP8-Governed MDA5 Homeostasis Promotes Innate Immunity and Autoimmunity.
Zhang Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Molecular basis of autoimmune disease protection by MDA5 variants.
Singh R et al.
Cell Reports, 2025
The Type 1 Diabetes-Associated Single Nucleotide Polymorphism rs1990760 in IFIH1 Is Associated with Increased Basal Type I IFNs and IFN-stimulated Gene Expression.
Taylor JP et al.
Journal of Immunology (baltimore, Md. : 1950), 2024
IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures.
Song W et al.
Journal of Medical Genetics, 2024
Contrasting functions of ATP hydrolysis by MDA5 and LGP2 in viral RNA sensing.
Singh R et al.
The Journal of Biological Chemistry, 2024
Innate immune responses to RNA: sensing and signaling.
Luan X et al.
Frontiers in Immunology, 2024
Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi-Goutières syndrome.
Casas-Alba D et al.
Rheumatology (oxford, England), 2022
MDA5 disease variant M854K prevents ATP-dependent structural discrimination of viral and cellular RNA.
Yu Q et al.
Nature Communications, 2021
Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation.
Lu M et al.
American Journal of Medical Genetics. Part A, 2021
Distinct and Orchestrated Functions of RNA Sensors in Innate Immunity.
Liu G et al.
Immunity, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI et al.
Human Mutation, 2020
Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus.
Almlöf JC et al.
Human Genetics, 2019
Cryo-EM Structures of MDA5-dsRNA Filaments at Different Stages of ATP Hydrolysis.
Yu Q et al.
Molecular Cell, 2018
Breaching Self-Tolerance to Alu Duplex RNA Underlies MDA5-Mediated Inflammation.
Ahmad S et al.
Cell, 2018
Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.
de Carvalho LM et al.
Arthritis & Rheumatology (hoboken, N.j.), 2017
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
Lamborn IT et al.
The Journal of Experimental Medicine, 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
RIG-I-Like Receptor Signaling in Singleton-Merten Syndrome.
Lu C et al.
Frontiers in Genetics, 2017
Novel interferonopathies associated with mutations in RIG-I like receptors.
Buers I et al.
Cytokine & Growth Factor Reviews, 2016
Kinetic discrimination of self/non-self RNA by the ATPase activity of RIG-I and MDA5.
Louber J et al.
Bmc Biology, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ et al.
American Journal of Medical Genetics. Part A, 2015
Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.
Diamond J
Clinical Genetics, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Rice GI et al.
Nature Genetics, 2014
Neuropathological Findings in a Case of IFIH1-Related Aicardi-Goutières Syndrome.
Gilani A et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0