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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Exp Med
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Rockefeller University Press 2020
Gaiak:
Brief Definitive Report
Sarrera elektronikoa: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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