Article
Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti.
Human molecular genetics - 1 Dec 2007
Sebban-Benin Hélène, Pescatore Alessandra, Fusco Francesca, Pascuale Valérie, Gautheron Jérémie, Yamaoka Shoji, Moncla Anne, Ursini Matilde Valeria, Courtois Gilles
Abstract excerpt
The regulatory subunit NEMO is involved in the mechanism of activation of IkappaB kinase (IKK), the kinase complex that controls the NF-kappaB signaling pathway. During this process, NEMO is modified post-translationally through K63-linked polyubiquitination. We report the molecular characterization of a new missense mutation of NEMO (A323P) which causes a severe form of incontinentia pigmenti (OMIM#308300), an...
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