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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2020
Materias:
Brief Definitive Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7596811/
https://www.ncbi.nlm.nih.gov/pubmed/32725128
http://dx.doi.org/10.1084/jem.20200600

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7596811/
https://www.ncbi.nlm.nih.gov/pubmed/32725128
http://dx.doi.org/10.1084/jem.20200600

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