A defect in COPI-mediated transport of STING causes immune dysregulation in COPA syndrome

• Published in: The Journal of experimental medicine Vol. 217; no. 11
• Main Authors: Deng, Zimu, Chong, Zhenlu, Law, Christopher S., Mukai, Kojiro, Ho, Frances O., Martinu, Tereza, Backes, Bradley J., Eckalbar, Walter L., Taguchi, Tomohiko, Shum, Anthony K.
• Format: Journal Article
• Language: English
• Published: United States Rockefeller University Press 02.11.2020
• Subjects: Animals; Brief Definitive Report; Coatomer Protein - genetics; Coatomer Protein - metabolism; Endoplasmic Reticulum - metabolism; Fibroblasts - metabolism; Gene Knock-In Techniques; Golgi Apparatus - metabolism; HEK293 Cells; Homeostasis - immunology; Humans; Immune System Diseases - genetics; Innate Immunity and Inflammation; Interferon Type I - metabolism; Membrane Proteins - genetics; Membrane Proteins - metabolism; Mice; Mice, Inbred C57BL; Mice, Transgenic; Mutation, Missense; Protein Transport - genetics; Signal Transduction - genetics; Syndrome; Transfection

Pathogenic COPA variants cause a Mendelian syndrome of immune dysregulation with elevated type I interferon signaling. COPA is a subunit of coat protein complex I (COPI) that mediates Golgi to ER transport. Missense mutations of the COPA WD40 domain impair binding and sorting of proteins targeted fo...