NF-κB-related genetic diseases

被引：57

作者：

Courtois, G

Smahi, A

机构：

[1] Hop St Louis, INSERM, U697, Paris, France

[2] Tour Lavoisier Hop Necker, INSERM, U393, Paris, France

来源：

CELL DEATH AND DIFFERENTIATION | 2006年 / 13卷 / 05期

关键词：

NF-kappa B; NEMO; incontinentia pigmenti; anhidrotic ectodermal dysplasia with immunodeficiency; cylindromatosis; CYLD;

D O I：

10.1038/sj.cdd.4401841

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The recent identification of genetic diseases (incontinentia pigmenti, anhidrotic ectodermal dysplasia with immunodeficiency and cylindromatosis) resulting from mutations affecting components of the nuclear factor-kappa B (NF-kappa B) signaling pathway provides a unique opportunity to understand the function of NF-kappa B in vivo. Besides confirming the importance of NF-kappa B in innate and acquired immunity or bone mass control, analysis of these diseases has uncovered new critical roles played by this transcription factor in the development and homeostasis of the epidermis and the proper function of lymphatic vessels. In addition, the identified mutations will help understanding at the molecular level how NF-kappa B is activated in response to cell stimulation.

引用

收藏

页码：843 / 851

页数：9

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