Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.

Résumé : 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. Here we describe a new IKBKG mutation responsible for IP resulting in an inactive truncated form of NEMO.
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Journal of Allergy and Clinical Immunology, Elsevier, 2017, 17 (4), 〈10.1016/j.jaci.2016.11.056〉
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https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01560363
Contributeur : Gad - Université de Bourgogne <>
Soumis le : mardi 11 juillet 2017 - 15:06:36
Dernière modification le : jeudi 22 mars 2018 - 15:56:03

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Elodie Bal, Emmanuel Laplantine, Yamina Hamel, Virginie Dubosclard, Bertrand Boisson, et al.. Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.. Journal of Allergy and Clinical Immunology, Elsevier, 2017, 17 (4), 〈10.1016/j.jaci.2016.11.056〉. 〈hal-01560363〉

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