Article
Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity.
Human mutation - 1 Mar 2011
Ma Chi A, Wang Hong-Ying, Temmerman Stephane, Zhao Yongge, Wu Liming, Hornung Ronald L, Wara Diane, Jain Ashish
Abstract excerpt
The covalent attachment of lysine 63-linked polyubiquitin to the zinc-finger domain of IKBKG/NEMO (also known as IKKγ) is necessary for full activation of NF-κB. Impairments of this biochemical mechanism explain the deleterious effects of hypomorphic NEMO mutations on NF-κB signaling function in humans suffering from X-linked ectodermal dysplasia and immunodeficiency. Nevertheless, the biological function of the...
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