Article
Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease.
Proceedings of the National Academy of Sciences of the United States of America - 9 Feb 2016
Zilberman-Rudenko Jevgenia, Shawver Linda Monaco, Wessel Alex W, Luo Yongquan, Pelletier Martin, Tsai Wanxia Li, Lee Younglang, Vonortas Spiridon, Cheng Laurence, Ashwell Jonathan D, Orange Jordan S, Siegel Richard M, Hanson Eric P
Abstract excerpt
Receptor-induced NF-κB activation is controlled by NEMO, the NF-κB essential modulator. Hypomorphic NEMO mutations result in X-linked ectodermal dysplasia with anhidrosis and immunodeficiency, also referred to as NEMO syndrome. Here we describe a distinct group of patients with NEMO C-terminal deletion (ΔCT-NEMO) mutations. Individuals harboring these mutations develop inflammatory skin and intestinal disease in...
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