New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

Nuclear factor-κB essential modulator (NEMO), the regulatory subunit of the IκB kinase complex, is a critical component of the NF-κB pathway. Hypomorphic mutations in the X-linked human NEMO gene cause various forms of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). All known X-linke...

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Detalhes bibliográficos
Main Authors: Hubeau, Marjorie, Ngadjeua, Flora, Puel, Anne, Israel, Laura, Feinberg, Jacqueline, Chrabieh, Maya, Belani, Kiran, Bodemer, Christine, Fabre, Isabelle, Plebani, Alessandro, Boisson-Dupuis, Stéphanie, Picard, Capucine, Fischer, Alain, Israel, Alain, Abel, Laurent, Veron, Michel, Casanova, Jean-Laurent, Agou, Fabrice, Bustamante, Jacinta
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2011
Assuntos:
Immunobiology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3251327/
https://ncbi.nlm.nih.gov/pubmed/21622647
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2010-10-315234
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