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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Vydáno v:J Exp Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Rockefeller University Press 2020
Témata:
Brief Definitive Report
On-line přístup: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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