ArticleJournal of autoimmunity2022
Intracellular virus sensor MDA5 mutation develops autoimmune myocarditis and nephritis.
Article in Journal of autoimmunity, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- Establishing the molecular basis for MDA5 mutation-linked autoimmunity.Nucleic acids research · 2026Article
- Establishing the molecular basis for MDA5 mutation-linked autoimmunity.bioRxiv : the preprint server for biology · 2026Article
- Global knockout of melanoma differentiation-associated protein 5 protects mice from chronic hypoxia/SU5416-induced pulmonary hypertension.American journal of physiology. Lung cellular and molecular physiology · 2026Article
- Identification and optimization of first-in-class RNA helicase inhibitors of DDX1, LGP2, and MDA5.European journal of medicinal chemistry · 2026Article
- HeterozygousiScience · 2026Article
- Childhood-Onset Systemic Lupus Erythematosus Research over the Past Decade in Japan.Children (Basel, Switzerland) · 2026Review
- MDA5 regulates BCR signaling and B-cell function via NF-κB-mediated DNM1.Cellular & molecular immunology · 2026Article
- Article
- Mouse models of type I interferonopathies.Human molecular genetics · 2025Review
- SAMHD1 deficiency enhances macrophage-mediated clearance ofFrontiers in immunology · 2025Article
- The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.Immunological reviews · 2024Review
- A zebrafish model of Ifih1-driven Aicardi-Goutières syndrome reproduces the interferon signature and the exacerbated inflammation of patients.Frontiers in immunology · 2023Article
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Authors and funding
17 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in IFIH1 gene encoding viral RNA sensor MDA5 have been reported responsible for many interferonopathies, including Aicardi-Goutières syndrome (AGS) and monogenic lupus, however, the pathological link between IFIH1 mutations and various autoimmune symptoms remains unclear. Here, we generated transgenic mice expressing human MDA5 R779H mutant (R779H Tg), reported in AGS and monogenic lupus patient. Mice spontaneously developed myocarditis and nephritis with upregulation of type I IFNs in the major organs. R779H Tg Mavs
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.