Article
Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.
The Journal of allergy and clinical immunology - 1 Dec 2017
Bal Elodie, Laplantine Emmanuel, Hamel Yamina, Dubosclard Virginie, Boisson Bertrand, Pescatore Alessandra, Picard Capucine, Hadj-Rabia Smaïl, Royer Ghislaine, Steffann Julie, Bonnefont Jean-Paul, Ursini Valeria M, Vabres Pierre, Munnich Arnold, Casanova Jean-Laurent, Bodemer Christine, Weil Robert, Agou Fabrice, Smahi Asma
Abstract excerpt
BACKGROUND: Incontinentia pigmenti (IP; MIM308300) is a severe, male-lethal, X-linked, dominant genodermatosis resulting from loss-of-function mutations in the IKBKG gene encoding nuclear factor κB (NF-κB) essential modulator (NEMO; the regulatory subunit of the IκB kinase [IKK] complex). In 80% of cases of IP, the deletion of exons 4 to 10 leads to the absence of NEMO and total inhibition of NF-κB signaling....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.