Article
AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production.
The Journal of investigative dermatology - 1 Nov 2016
Mahil Satveer K, Twelves Sophie, Farkas Katalin, Setta-Kaffetzi Niovi, Burden A David, Gach Joanna E, Irvine Alan D, Képíró László, Mockenhaupt Maja, Oon Hazel H, Pinner Jason, Ranki Annamari, Seyger Marieke M B, Soler-Palacin Pere, Storan Eoin R, Tan Eugene S, Valeyrie-Allanore Laurence, Young Helen S, Trembath Richard C, Choon Siew-Eng, Szell Marta, Bata-Csorgo Zsuzsanna, Smith Catherine H, Di Meglio Paola, Barker Jonathan N, Capon Francesca
Abstract excerpt
Prominent skin involvement is a defining characteristic of autoinflammatory disorders caused by abnormal IL-1 signaling. However, the pathways and cell types that drive cutaneous autoinflammatory features remain poorly understood. We sought to address this issue by investigating the pathogenesis of pustular psoriasis, a model of autoinflammatory disorders with predominant cutaneous manifestations. We specifically...
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