Orais and STIMs: physiological mechanisms and disease.
Orais and STIMs: physiological mechanisms and disease.
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DOI：
10.1111/j.1582-4934.2011.01395.x
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发表时间：
2012-03
影响因子：
5.3
通讯作者：
Rosado JA
中科院分区：
文献类型：
--
作者：
Berna-Erro A;Woodard GE;Rosado JA
基质相互作用分子STIM 1和STIM 2是主要位于内质网中的Ca 2+传感器，其检测管腔内Ca 2+浓度的变化并将该信息传递给质膜钙库操纵的通道，包括奥赖家族的成员，从而介导钙库操纵的Ca 2+内流（SOCE）。奥赖和STIM蛋白在人类细胞中几乎普遍表达，据报道SOCE在其中发挥相关的功能作用。携带STIM和奥赖蛋白突变的患者的表型，以及小鼠中的STIM或奥赖缺陷模型，以及其他生物体如黑腹果蝇，提供了这些蛋白在细胞生理学和病理学中的相关作用的令人信服的证据。Orai 1缺陷患者患有严重免疫缺陷、先天性肌病、慢性肺病、脱水性外胚叶发育不良和牙釉质钙化缺陷。STIM1缺陷患者表现出类似的异常，以及自身免疫性疾病。本文综述了目前的证据，确定和解释的疾病引起的干扰SOCE由于缺陷或突变的奥赖和STIM蛋白。
The stromal interaction molecules STIM1 and STIM2 are Ca2+ sensors, mostly located in the endoplasmic reticulum, that detect changes in the intraluminal Ca2+ concentration and communicate this information to plasma membrane store-operated channels, including members of the Orai family, thus mediating store-operated Ca2+ entry (SOCE). Orai and STIM proteins are almost ubiquitously expressed in human cells, where SOCE has been reported to play a relevant functional role. The phenotype of patients bearing mutations in STIM and Orai proteins, together with models of STIM or Orai deficiency in mice, as well as other organisms such as Drosophila melanogaster, have provided compelling evidence on the relevant role of these proteins in cellular physiology and pathology. Orai1-deficient patients suffer from severe immunodeficiency, congenital myopathy, chronic pulmonary disease, anhydrotic ectodermal dysplasia and defective dental enamel calcification. STIM1-deficient patients showed similar abnormalities, as well as autoimmune disorders. This review summarizes the current evidence that identifies and explains diseases induced by disturbances in SOCE due to deficiencies or mutations in Orai and STIM proteins.
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影响因子：
20.3
作者：
Braun, Attila;Varga-Szabo, David;Nieswandt, Bernhard
通讯作者：
Nieswandt, Bernhard
影响因子：
5
作者：
Bovell, DL;Clunes, MT;Ko, WH
通讯作者：
Ko, WH
DOI：
10.1084/jem.20101597
发表时间：
2010-10-25
期刊：
The Journal of experimental medicine
影响因子：
--
作者：
Byun M;Abhyankar A;Lelarge V;Plancoulaine S;Palanduz A;Telhan L;Boisson B;Picard C;Dewell S;Zhao C;Jouanguy E;Feske S;Abel L;Casanova JL
通讯作者：
Casanova JL
影响因子：
4.8
作者：
Darbellay, Basile;Arnaudeau, Serge;Bernheim, Laurent
通讯作者：
Bernheim, Laurent
影响因子：
20.3
作者：
Bergmeier, Wolfgang;Oh-hora, Masatsugu;Feske, Stefan
通讯作者：
Feske, Stefan