Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways

Abstract Netherton syndrome (NS) is a rare skin disease caused by loss-of-function mutations in the serine peptidase inhibitor Kazal type 5 (SPINK5) gene. Disease severity and the lack of efficacious treatments call for a better understanding of NS mechanisms. Here we describe a novel and viable, Sp...

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Bibliographic Details
Main Authors: Evgeniya Petrova, Jesús María López-Gay, Matthias Fahrner, Florent Leturcq, Jean-Pierre de Villartay, Claire Barbieux, Patrick Gonschorek, Lam C. Tsoi, Johann E. Gudjonsson, Oliver Schilling, Alain Hovnanian
Format: Article
Language:English
Published: Nature Portfolio 2024-02-01
Series:Communications Biology
Online Access:https://doi.org/10.1038/s42003-024-05780-y