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 articles
hal-02996541v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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.
Journal articles
pasteur-01819255v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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 articles
pasteur-02933253v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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.
Conference papers
pasteur-03251879v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
COPA syndrome, 5 years after: Where are we?
Marie-Louise Frémond
,
Nadia Nathan
Journal articles
inserm-04011131v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Type I interferon-mediated autoinflammation due to DNase II deficiency
Mathieu Rodéro
,
Alessandra Tesser
,
Eva Bartok
,
Gillian Rice
,
Erika Della Mina
,
et al.
Journal articles
pasteur-01768950v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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 articles
hal-01908851v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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 articles
hal-01911048v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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 articles
inserm-03297221v2
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Le recyclage de STING par COPA freine l’inflammation
Alice Lepelley
,
Marie-Louise Frémond
Journal articles
hal-03175322v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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.
Journal articles
pasteur-02383120v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
JAK Inhibition in the Aicardi–Goutières Syndrome
Bénédicte Neven
,
Buthaina Al Adba
,
Marie Hully
,
Isabelle Desguerre
,
Claire Pressiat
,
et al.
Journal articles
pasteur-03155975v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
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 articles
pasteur-03889611v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Syndrome COPA, quoi de neuf cinq ans après ?
Marie-Louise Frémond
,
Nadia Nathan
Journal articles
hal-03236095v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More