Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress
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 · 2024
Read Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress by 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 (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11569173.txt.
Description
Alberto Iannuzzo and colleagues explain how certain gene variants trapped in the cell's shipping hub cause autoinflammatory disease through trafficking defects. Their 2024 study examines variants of a signalling protein linked to newborn-onset inflammation syndromes.
The recurrent variant sits stuck in the Golgi apparatus and blocks transport in both directions through it. That blockage makes an immune sensor accumulate in the Golgi, overactivating its pathway and the type one interferon response. The trapped variants also stressed the cell's protein-folding compartment. Variants that did not accumulate in the Golgi showed none of these effects. Patients carrying trapped variants had very high circulating interferon levels at disease onset, matching the laboratory picture.
Catalog record
| CREATOR | 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 |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 46 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |