人类遗传疾病中的核因子κB信号通路。
The NF-kappaB signaling pathway in human genetic diseases.
作者信息
Courtois Gilles
机构信息
INSERM U697, Pavillon Bazin, Hôpital Saint-Louis, 1, Avenue Claude Vellefaux, 75010, Paris, France.
出版信息
Cell Mol Life Sci. 2005 Aug;62(15):1682-91. doi: 10.1007/s00018-005-5031-5.
Abstract
The nuclear factor-kappaB (NF-kappaB) 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-kappaB activation in humans is provided with respect to the functions of the molecules which are mutated.
摘要
核因子-κB（NF-κB）信号通路在炎症、免疫反应、细胞生长控制及抗细胞凋亡保护中起关键作用。近来，它与几种表现出广泛功能障碍的不同遗传疾病相关，如皮肤炎症、皮肤附属器发育异常及免疫缺陷。在本综述中，针对发生突变的分子的功能，总结了人类中NF-κB激活受损的病理生理后果。
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