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authFullName_s : Marie-Louise Frémond

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

Mathieu P Rodero , Isabelle Melki , Yoann Rose , Carolina Uggenti , Lien van Eyck , et al.
Journal of Allergy and Clinical Immunology, 2017, 140 (2), pp.543-552.e5. ⟨10.1016/J.JACI.2016.10.031⟩
Journal articles hal-02996541v1
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Comment on: ‘Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors’ by Giannelou et al : mutations in TRNT1 result in a constitutive activation of type I interferon signalling

Marie-Louise Frémond , Isabelle Melki , Sven Kracker , Vincent Bondet , Darragh Duffy , et al.
Annals of the Rheumatic Diseases, 2018, ⟨10.1136/annrheumdis-2018-213745⟩
Journal articles pasteur-01819255v1
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Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

Alice Lepelley , Maria José Martin-Niclos , Melvin Le Bihan , Joseph A. Marsh , Carolina Uggenti , et al.
Journal of Experimental Medicine, 2020, 217 (11), pp.e20200600. ⟨10.1084/jem.20200600⟩
Journal articles pasteur-02933253v1

OP0107 HETEROZYGOUS MUTATIONS IN COPA ARE ASSOCIATED WITH ENHANCED TYPE I INTERFERON SIGNALLING

Marie-Louise Frémond , Alice Lepelley , Carolina Uggenti , Maria José Martin-Niclos , Marine Depp , et al.
Annual European Congress of Rheumatology, EULAR 2019, Madrid, 12–15 June 2019, Jun 2019, Madrid, Spain. pp.127.1-127, ⟨10.1136/annrheumdis-2019-eular.4158⟩
Conference papers pasteur-03251879v1
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COPA syndrome, 5 years after: Where are we?

Marie-Louise Frémond , Nadia Nathan
Joint Bone Spine, 2021, 88 (2), pp.105070. ⟨10.1016/j.jbspin.2020.09.002⟩
Journal articles inserm-04011131v1
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Type I interferon-mediated autoinflammation due to DNase II deficiency

Mathieu Rodéro , Alessandra Tesser , Eva Bartok , Gillian Rice , Erika Della Mina , et al.
Nature Communications, 2017, 8 (1), pp.2176. ⟨10.1038/s41467-017-01932-3⟩
Journal articles pasteur-01768950v1

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

Gillian I. Rice , Isabelle Melki , Marie-Louise Frémond , Tracy A. Briggs , Mathieu P. Rodero , et al.
Journal of Clinical Immunology, 2017, 37 (2), pp.123-132. ⟨10.1007/s10875-016-0359-1⟩
Journal articles hal-01908851v1

Heterozygous mutations in COPA are associated with enhanced type I interferon signalling

Marie-Louise Frémond , Alice Lepelley , Carolina Uggenti , Maria José Martin-Niclos , Marine Depp , et al.
International Society of Systemic Auto-Inflammatory Diseases, Mar 2019, Genes, Italy
Conference poster inserm-03956476v1

Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children

Marie-Louise Frémond , Mathieu Paul Rodero , Nadia Jeremiah , Alexandre Belot , Eric Jeziorski , et al.
Journal of Allergy and Clinical Immunology, 2016, 138 (6), pp.1752-1755. ⟨10.1016/j.jaci.2016.07.015⟩
Journal articles hal-01911048v1
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Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A

Alice Lepelley , Erika Della Mina , Erika van Nieuwenhove , Lise Waumans , Sylvie Fraitag , et al.
Journal of Experimental Medicine, 2021, 218 (10), pp.e20201560. ⟨10.1084/jem.20201560⟩
Journal articles inserm-03297221v2
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Le recyclage de STING par COPA freine l’inflammation

Alice Lepelley , Marie-Louise Frémond
Médecine/Sciences, 2021, 37 (3), pp.222-225. ⟨10.1051/medsci/2021005⟩
Journal articles hal-03175322v1

Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling

Isabelle Melki , Hervé Devilliers , Cyril Gitiaux , Vincent Bondet , Darragh Duffy , et al.
Rheumatology, 2020, 59 (8), pp.1927-1937. ⟨10.1093/rheumatology/kez525⟩
Journal articles pasteur-02383120v1
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JAK Inhibition in the Aicardi–Goutières Syndrome

Bénédicte Neven , Buthaina Al Adba , Marie Hully , Isabelle Desguerre , Claire Pressiat , et al.
New England Journal of Medicine, 2020, 383 (22), pp.2190-2193. ⟨10.1056/NEJMc2031081⟩
Journal articles pasteur-03155975v1
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Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers

Mathilde Labouret , Stefania Costi , Vincent Bondet , Vincent Trebossen , Enora Le Roux , et al.
Journal of Clinical Immunology, 2022, ⟨10.1007/s10875-022-01407-1⟩
Journal articles pasteur-03889611v1
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Syndrome COPA, quoi de neuf cinq ans après ?

Marie-Louise Frémond , Nadia Nathan
Revue du Rhumatisme, 2021, 88 (3), pp.183-189. ⟨10.1016/j.rhum.2021.02.018⟩
Journal articles hal-03236095v1