Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

Heterozygous missense mutations in coatomer protein subunit α, COPA, cause a syndrome overlapping clinically with type I IFN-mediated disease due to gain-of-function in STING, a key adaptor of IFN signaling. Recently, increased levels of IFN-stimulated genes (ISGs) were described in COPA syndrome. H...

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Veröffentlicht in:J Exp Med
Hauptverfasser: Lepelley, Alice, Martin-Niclós, Maria José, Le Bihan, Melvin, Marsh, Joseph A., Uggenti, Carolina, Rice, Gillian I., Bondet, Vincent, Duffy, Darragh, Hertzog, Jonny, Rehwinkel, Jan, Amselem, Serge, Boulisfane-El Khalifi, Siham, Brennan, Mary, Carter, Edwin, Chatenoud, Lucienne, Chhun, Stéphanie, Coulomb l’Hermine, Aurore, Depp, Marine, Legendre, Marie, Mackenzie, Karen J., Marey, Jonathan, McDougall, Catherine, McKenzie, Kathryn J., Molina, Thierry Jo, Neven, Bénédicte, Seabra, Luis, Thumerelle, Caroline, Wislez, Marie, Nathan, Nadia, Manel, Nicolas, Crow, Yanick J., Frémond, Marie-Louise
Format: Artigo
Sprache:Inglês
Veröffentlicht: Rockefeller University Press 2020
Schlagworte:
Brief Definitive Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7596811/
https://ncbi.nlm.nih.gov/pubmed/32725128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20200600
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