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Heterozygous mutations in COPA are associated with enhanced type I interferon signalling

Archive ouverte | Frémond, Marie-Louise | CCSD

International audience. Introduction: Heterozygous mutations in COPA, encoding coatomer protein subunit alpha, cause an autosomal dominant inflammatory syndrome associating lung, joint and renal disease, showing som...

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

Archive ouverte | Lepelley, Alice | CCSD

International audience. 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 o...

Le recyclage de STING par COPA freine l’inflammation

Archive ouverte | Lepelley, Alice | CCSD

International audience

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