Associated Papers
Functional Validation of a COPA Mutation Broadens the Spectrum of COPA Syndrome.
Kechiche R et al.
Journal of Clinical Immunology, 2024
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.
Delafontaine S et al.
The Journal of Clinical Investigation, 2024
COPA syndrome caused by a novel p.Arg227Cys COPA gene variant.
Zheng Y et al.
Molecular Genetics & Genomic Medicine, 2024
Membrane traffic governs the STING inflammatory signalling.
Taguchi T
Journal of Biochemistry, 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
Augmentation of Stimulator of Interferon Genes-Induced Type I Interferon Production in COPA Syndrome.
Kato T et al.
Arthritis & Rheumatology (hoboken, N.j.), 2021
Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associated with a novel COPA mutation.
Bader-Meunier B et al.
Rheumatology (oxford, England), 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
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
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