Associated Papers
Molecular mechanism of MDA5 nucleation and filament formation by LGP2.
Kurihara N et al.
Molecular Cell, 2026
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
Inverted Alu repeats: friends or foes in the human transcriptome.
Lee K et al.
Experimental & Molecular Medicine, 2024
Innate immune responses to RNA: sensing and signaling.
Luan X et al.
Frontiers in Immunology, 2024
RNA sensing via the RIG-I-like receptor LGP2 is essential for the induction of a type I IFN response in ADAR1 deficiency.
Stok JE et al.
The Embo Journal, 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
Interstitial Lung Disease and Psoriasis in a Child With Aicardi-Goutières Syndrome.
Zheng S et al.
Frontiers in Immunology, 2020
Hereditary spastic paraplegia associated with a rare IFIH1 mutation: a case report and literature review.
Liu N et al.
Hereditas, 2019
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
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
Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.
Marguet F et al.
American Journal of Medical Genetics. Part A, 2016
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
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
Crow YJ et al.
Neuropediatrics, 2014
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