Associated Papers
Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome.
David C et al.
Annals of the Rheumatic Diseases, 2025
STING: a multifaced player in cellular homeostasis.
Song K et al.
Human Molecular Genetics, 2025
Activated STING in the thymic epithelium alters T cell development and selection leading to autoimmunity.
Deng Z et al.
The Journal of Clinical Investigation, 2025
Conditional knockout mouse model demonstrates that Copa expression is required for viability in development and adulthood.
Gilson T et al.
Biochemical and Biophysical Research Communications, 2025
The pathogenesis, clinical presentations and treatment of monogenic systemic vasculitis.
Gül A et al.
Nature Reviews. Rheumatology, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Functional Validation of a COPA Mutation Broadens the Spectrum of COPA Syndrome.
Kechiche R et al.
Journal of Clinical Immunology, 2024
Activated STING in the thymus alters T cell development and selection leading to autoimmunity.
Deng Z et al.
Biorxiv : the Preprint Server for Biology, 2024
COPA syndrome caused by a novel p.Arg227Cys COPA gene variant.
Zheng Y et al.
Molecular Genetics & Genomic Medicine, 2024
Autoinflammatory Diseases Due to Defects in Degradation or Transport of Intracellular Proteins.
Sasaki I et al.
Advances in Experimental Medicine and Biology, 2024
Membrane traffic governs the STING inflammatory signalling.
Taguchi T
Journal of Biochemistry, 2023
COPI coatomer subunit α-COP interacts with the RNA binding protein Nucleolin via a C-terminal dilysine motif.
Custer SK et al.
Human Molecular Genetics, 2023
COPA Syndrome from Diagnosis to Treatment: A Clinician's Guide.
Simchoni N et al.
Rheumatic Diseases Clinics of North America, 2023
copa-1 mutants experience heightened endoplasmic reticulum stress sensitivity in a C. elegans COPA Syndrome model.
Larkin KA et al.
Micropublication Biology, 2023
Intracellular Sensing of DNA in Autoinflammation and Autoimmunity.
MacLauchlan S et al.
Arthritis & Rheumatology (hoboken, N.j.), 2022
MITA/STING-mediated antiviral immunity and autoimmunity: the evolution, mechanism, and intervention.
Zhong B et al.
Current Opinion in Immunology, 2022
Allograft dysfunction after lung transplantation for COPA syndrome: A case report and literature review.
Matsubayashi T et al.
Modern Rheumatology Case Reports, 2022
Deficiency in coatomer complex I causes aberrant activation of STING signalling.
Steiner A et al.
Nature Communications, 2022
Dysregulation of the cGAS-STING Pathway in Monogenic Autoinflammation and Lupus.
Wobma H et al.
Frontiers in Immunology, 2022
Augmentation of Stimulator of Interferon Genes-Induced Type I Interferon Production in COPA Syndrome.
Kato T et al.
Arthritis & Rheumatology (hoboken, N.j.), 2021
The cGAS-STING pathway as a therapeutic target in inflammatory diseases.
Decout A et al.
Nature Reviews. Immunology, 2021
Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associated with a novel COPA mutation.
Bader-Meunier B et al.
Rheumatology (oxford, England), 2021
STING-Mediated Lung Inflammation and Beyond.
Frémond ML et al.
Journal of Clinical Immunology, 2021
Homeostatic regulation of STING by retrograde membrane traffic to the ER.
Mukai K et al.
Nature Communications, 2021
A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review.
Zeng J et al.
Frontiers in Pediatrics, 2021
A defect in COPI-mediated transport of STING causes immune dysregulation in COPA syndrome.
Deng Z et al.
The Journal of Experimental Medicine, 2020
Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling.
Lepelley A et al.
The Journal of Experimental Medicine, 2020
A Defect in Thymic Tolerance Causes T Cell-Mediated Autoimmunity in a Murine Model of COPA Syndrome.
Deng Z et al.
Journal of Immunology (baltimore, Md. : 1950), 2020
Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.
Taveira-DaSilva AM et al.
Journal of Medical Genetics, 2019
An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations.
Patwardhan A et al.
Pediatric Rheumatology Online Journal, 2019
Genetics of COPA syndrome.
Kumrah R et al.
The Application of Clinical Genetics, 2019
Analysis of pulmonary features and treatment approaches in the COPA syndrome.
Tsui JL et al.
Erj Open Research, 2018
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.
Jensson BO et al.
Bmc Medical Genetics, 2017
Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species.
Bourneuf E et al.
Scientific Reports, 2017
Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease.
Vece TJ et al.
Journal of Clinical Immunology, 2016
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
Watkin LB et al.
Nature Genetics, 2015