Formation of COPI-coated vesicles at a glance, J. Cell Sci, vol.131, 2018. ,
COPA syndrome as a cause of lupus nephritis, Kidney Int. Rep, vol.4, pp.1187-1189, 2019. ,
URL : https://hal.archives-ouvertes.fr/hal-02519584
Organization of the ER-Golgi interface for membrane traffic control, Nat. Rev. Mol. Cell Biol, vol.14, pp.382-392, 2013. ,
,
, Ann. Rheum. Dis, vol.78, pp.431-433
STING is a direct innate immune sensor of cyclic di-GMP, Nature, vol.478, pp.515-518, 2011. ,
Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes, J. Exp. Med, vol.214, pp.1769-1785, 2017. ,
Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype, Pediatr. Rheumatol. Online J, vol.18, p.37, 2020. ,
Mutations in the gene encoding the 39-59 DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus, Nat. Genet, vol.38, pp.917-920, 2006. ,
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection, Nat. Genet, vol.38, pp.910-916, 2006. ,
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases, J. Clin. Invest, vol.130, pp.1669-1682, 2020. ,
Mitochondrial double-stranded RNA triggers antiviral signalling in humans, Nature, vol.560, pp.238-242, 2018. ,
URL : https://hal.archives-ouvertes.fr/pasteur-01962442
STING Activation by Translocation from the ER Is Associated with Infection and Autoinflammatory Disease, Cell Host Microbe, vol.18, pp.157-168, 2015. ,
, , 2017.
STING polymer structure reveals mechanisms for activation, hyperactivation, and inhibition, Cell, vol.178, pp.290-301, 2019. ,
Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children, J. Allergy Clin. Immunol, vol.138, pp.1752-1755, 2016. ,
Brief Report: Blockade of TANK-Binding Kinase 1/IKK? Inhibits Mutant Stimulator of Interferon Genes (STING)-Mediated Inflammatory Responses in Human Peripheral Blood Mononuclear Cells, Arthritis Rheumatol, vol.69, pp.1495-1501, 2017. ,
Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage, Thorax, vol.75, pp.92-95, 2020. ,
The N-Terminal Domain of cGAS Determines Preferential Association with Centromeric DNA and Innate Immune Activation in the Nucleus, Cell Rep, vol.26, pp.2377-2393, 2019. ,
URL : https://hal.archives-ouvertes.fr/hal-02104986
Trafficking-Mediated STING Degradation Requires Sorting to Acidified Endolysosomes and Can Be Targeted to Enhance Antitumor Response, Cell Rep, vol.21, pp.3234-3242, 2017. ,
Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations, J. Mol. Biol, vol.320, issue.02, pp.442-446, 2002. ,
Autophagy induction via STING trafficking is a primordial function of the cGAS pathway, Nature, vol.567, pp.262-266, 2019. ,
DNA damage primes the type I interferon system via the cytosolic DNA sensor STING to promote anti-microbial innate immunity, Immunity, vol.42, pp.332-343, 2015. ,
Nucleic Acid Immunity, Adv. Immunol, vol.133, pp.121-169, 2017. ,
2020. Varicella-Zoster Virus ORF9 Is an Antagonist of the DNA Sensor cGAS, 2020. ,
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA, BMC Med. Genet, vol.18, p.129, 2017. ,
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations, J. Clin. Invest, vol.124, pp.5516-5520, 2014. ,
The Genome Aggregation Database Consortium. 2019. Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes, vol.13, 2019. ,
VDAC oligomers form mitochondrial pores to release mtDNA fragments and promote lupuslike disease, Science, vol.366, pp.1531-1536, 2019. ,
Baricitinib in therapy of COPA syndrome in a 15-year-old girl, Eur. J. Rheumatol. 1-4:1-4, 2019. ,
NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation, Cell, vol.175, pp.488-501, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-02087780
Induction of cortical endoplasmic reticulum by dimerization of a coatomer-binding peptide anchored to endoplasmic reticulum membranes, Proc. Natl. Acad. Sci. USA, vol.107, pp.6876-6881, 2010. ,
Stapled Golgi cisternae remain in place as cargo passes through the stack. eLife. 2. e00558, 2013. ,
Coatomer is essential for retrieval of dilysine-tagged proteins to the endoplasmic reticulum, Cell, vol.79, pp.90011-90017, 1994. ,
URL : https://hal.archives-ouvertes.fr/hal-00313999
Activated STING in a vascular and pulmonary syndrome, N. Engl. J. Med, vol.371, pp.507-518, 2014. ,
Phosphorylation of innate immune adaptor proteins MAVS, STING, and TRIF induces IRF3 activation, Science, vol.347, 2015. ,
Rules for the recognition of dilysine retrieval motifs by coatomer, EMBO J, vol.32, pp.926-937, 2013. ,
cGAS surveillance of micronuclei links genome instability to innate immunity, Nature, vol.548, pp.461-465, 2017. ,
Diseaseassociated mutations identify a novel region in human STING necessary for the control of type I interferon signaling, J. Allergy Clin. Immunol, vol.140, pp.543-552, 2017. ,
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome, J. Exp. Med, vol.213, pp.1163-1174, 2016. ,
URL : https://hal.archives-ouvertes.fr/pasteur-02070980
AIRE-Deficient Patients Harbor Unique High-Affinity Disease-Ameliorating Autoantibodies, Cell, vol.166, pp.582-595, 2016. ,
Activation of STING requires palmitoylation at the Golgi, Nat. Commun, vol.7, p.11932, 2016. ,
Imaging findings of Copa syndrome in a 12-year-old boy, Pediatr. Radiol, vol.48, pp.279-282, 2018. ,
The binding of TBK1 to STING requires exocytic membrane traffic from the ER, Biochem. Biophys. Res. Commun, vol.503, pp.138-145, 2018. ,
Structural analysis of the STING adaptor protein reveals a hydrophobic dimer interface and mode of cyclic di-GMP binding, Immunity, vol.36, pp.1073-1086, 2012. ,
Coordinated regulation of bidirectional COPI transport at the Golgi by CDC42, Nature, vol.521, pp.529-532, 2015. ,
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, Pediatr. Rheumatol. Online J, vol.17, p.59, 2019. ,
Inter-Golgi transport mediated by COPI-containing vesicles carrying small cargoes. eLife. 2. e01296, 2013. ,
COPI budding within the Golgi stack, Cold Spring Harb. Perspect. Biol. 3. a005231, 2011. ,
Early endosomes and endosomal coatomer are required for autophagy, J. Cell Biol, vol.185, pp.305-321, 2009. ,
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature, Nat. Genet, vol.44, pp.1243-1248, 2012. ,
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNA-SEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study, Lancet Neurol, vol.12, pp.1159-1169, 2013. ,
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling, Nat. Genet, vol.46, pp.503-509, 2014. ,
Assessment of type I interferon signaling in pediatric inflammatory disease, J. Clin. Immunol, vol.37, pp.123-132, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01908851
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function, Hum. Mutat, vol.41, pp.837-849, 2020. ,
Detection of interferon alpha protein reveals differential levels and cellular sources in disease, J. Exp. Med, vol.214, pp.1547-1555, 2017. ,
URL : https://hal.archives-ouvertes.fr/pasteur-01534181
JAK1/ 2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies, J. Clin. Invest, vol.128, pp.3041-3052, 2018. ,
Cryo-EM structures of STING reveal its mechanism of activation by cyclic GMP-AMP, Nature, vol.567, pp.389-393, 2019. ,
The Ca 2+ sensor STIM1 regulates the type I interferon response by retaining the signaling adaptor STING at the endoplasmic reticulum, Nat. Immunol, vol.20, pp.152-162, 2019. ,
STING is an essential mediator of the Ku70-mediated production of IFN-?1 in response to exogenous DNA, Sci. Signal, vol.10, 2017. ,
Cyclic GMP-AMP synthase is a cytosolic DNA sensor that activates the type I interferon pathway, Science, vol.339, pp.786-791, 2013. ,
ARF GTPases and their GEFs and GAPs: concepts and challenges, Mol. Biol. Cell, vol.30, pp.1249-1271, 2019. ,
URL : https://hal.archives-ouvertes.fr/hal-02363294
2020. STING-Associated Vasculopathy with Onset in Infancy in Three Children with New Clinical Aspect and Unsatisfactory Therapeutic Responses to Tofacitinib, J. Clin. Immunol, vol.40, pp.114-122 ,
Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features, J. Med. Genet, vol.56, pp.778-782, 2019. ,
Analysis of pulmonary features and treatment approaches in the COPA syndrome, ERJ Open Res, vol.4, pp.17-2018, 2018. ,
Self-Awareness: Nucleic Acid-Driven Inflammation and the Type I Interferonopathies, Annu. Rev. Immunol, vol.37, pp.247-267, 2019. ,
Copa syndrome: a novel autosomal dominant immune dysregulatory disease, J. Clin. Immunol, vol.36, pp.377-387, 2016. ,
Type I interferon pathway activation in COPA syndrome, Clin. Immunol, vol.187, pp.33-36, 2018. ,
Efficacy and adverse events during janus kinase inhibitor treatment of SAVI syndrome, J. Clin. Immunol, vol.39, pp.476-485, 2019. ,
Coatomer': a cytosolic protein complex containing subunits of non-clathrin-coated Golgi transport vesicles, Nature, vol.349, pp.248-251, 1991. ,
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis, Nat. Genet, vol.47, pp.654-660, 2015. ,
Human intracellular ISG15 prevents interferon-?/? over-amplification and autoinflammation, Nature, vol.517, pp.89-93, 2015. ,
URL : https://hal.archives-ouvertes.fr/pasteur-02070691