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[免疫缺陷以及与STIM/ORAI突变相关的病理学,STIM/ORAI是钙信号传导核心的一种膜复合物]

[Immunodeficiencies and pathologies associated with mutations in STIM/ORAI, a membrane complex in the heart of calcium signalling].

作者信息

Le Deist Françoise, Capiod Thierry

机构信息

Département de microbiologie et d'immunologie et centre de recherche, Montréal, Canada.

出版信息

Med Sci (Paris). 2011 Aug-Sep;27(8-9):737-45. doi: 10.1051/medsci/2011278016. Epub 2011 Aug 31.

DOI:10.1051/medsci/2011278016
PMID:21880262
Abstract

Six years ago, STIM1 (stromal interaction molecule 1) was identified as an essential component of store-operated calcium channels and in less than one year teamed up with its first partner ORAI1 in immune cells to reconstitute CRAC (calcium-release activated current) channel function. Since then, STIM1 and ORAI1 have developed an ever increasing social network and to date are now linked to nine families of proteins involved in calcium signalling. As a result of this, STIM1 and ORAI1 are now involved in three separate calcium entry pathways, Icrac, Iarc (arachidonic regulated calcium current) and voltage-dependent channels. Physiopathological roles of STIM1 and ORAI1 were first described in the immunological system but, as main actors at the central node in the calcium signalling network, there are now clear evidences that mutations in genes coding STIM1 or ORAI1 interfere with several other diseases.

摘要

六年前,基质相互作用分子1(STIM1)被确定为钙库操纵性钙通道的重要组成部分,并且在不到一年的时间里,它就在免疫细胞中与其首个伴侣Orai1合作,重建了钙释放激活电流(CRAC)通道功能。从那时起,STIM1和Orai1构建了一个不断扩大的社交网络,到目前为止,它们与参与钙信号传导的九个蛋白质家族建立了联系。因此,STIM1和Orai1现在参与了三种独立的钙内流途径,即钙释放激活钙电流(Icrac)、花生四烯酸调节的钙电流(Iarc)和电压依赖性通道。STIM1和Orai1的生理病理作用最初是在免疫系统中描述的,但作为钙信号网络中心节点的主要参与者,现在有明确证据表明,编码STIM1或Orai1的基因突变会干扰其他几种疾病。

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[Immunodeficiencies and pathologies associated with mutations in STIM/ORAI, a membrane complex in the heart of calcium signalling].[免疫缺陷以及与STIM/ORAI突变相关的病理学,STIM/ORAI是钙信号传导核心的一种膜复合物]
Med Sci (Paris). 2011 Aug-Sep;27(8-9):737-45. doi: 10.1051/medsci/2011278016. Epub 2011 Aug 31.
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Immunodeficiency due to mutations in ORAI1 and STIM1.由于 ORAI1 和 STIM1 突变导致的免疫缺陷。
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ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.ORAI1 缺乏和钙库操纵的钙内流缺失导致免疫缺陷、肌病和外胚层发育不良。
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