The NF-κB signaling pathway in human genetic diseases

被引：0
|
作者：
G. Courtois
机构：
[1] Hôpital Saint-Louis,INSERM U697, Pavillon Bazin
来源：
Cellular and Molecular Life Sciences CMLS | 2005年 / 62卷
关键词：
NF-κB; NEMO; Incontinentia pigmenti; Anhidrotic ectodermal dysplasia with immunodeficiency; Cylindromatosis; CYLD;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
The nuclear factor-κB (NF-κB) signaling pathway plays a key role in inflammation, immune response, cell growth control and protection against apoptosis. Recently, it has been associated with several distinct genetic diseases that exhibit a large spectrum of dysfunction, such as skin inflammation, perturbed skin appendage development and immunodeficiencies. In this review, a summary of the pathophysiological consequences of impaired NF-κB activation in humans is provided with respect to the functions of the molecules which are mutated.
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页码：1682 / 1691
页数：9
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