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Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress

Abstract Most autoinflammatory diseases are caused by mutations in innate immunity genes. Previously, four variants in the RHO GTPase CDC42 were discovered in patients affected by syndromes generally characterized by neonatal-onset of cytopenia and auto-inflammation, including hemophagocytic lymphoh...

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Autori principali: Alberto Iannuzzo, Selket Delafontaine, Rana El Masri, Rachida Tacine, Giusi Prencipe, Masahiko Nishitani-Isa, Rogier T. A. van Wijck, Farzana Bhuyan, Adriana A. de Jesus Rasheed, Simona Coppola, Paul L. A. van Daele, Antonella Insalaco, Raphaela Goldbach-Mansky, Takahiro Yasumi, Marco Tartaglia, Isabelle Meyts, Jérôme Delon
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Portfolio 2024-11-01
Serie:Nature Communications
Accesso online:https://doi.org/10.1038/s41467-024-54294-y
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