Calpain-related diseases
Calpain-related diseases
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DOI：
10.1016/j.bbrc.2004.07.126
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发表时间：
2004-10-01
影响因子：
3.1
通讯作者：
Branca, D
中科院分区：
文献类型：
--
作者：
Branca, D
钙蛋白酶是钙调节的蛋白酶，其通过去除蛋白质底物的有限部分来响应Ca 2+信号，从而不可逆地改变其功能。该蛋白酶家族的成员存在于从哺乳动物到植物的多种生物体中;其中一些是普遍表达的，而另一些是组织特异性的。虽然钙蛋白酶显然参与了许多生理和病理事件，但其功能仍然知之甚少。然而，在两种情况下，钙蛋白酶家族成员的改变已被明确确定为对人类疾病负责：钙蛋白酶3功能的丧失导致肢带型肌营养不良症2A型，而编码钙蛋白酶10的基因突变已被证明与非胰岛素依赖型糖尿病相关。(C)2004年爱思唯尔公司All rights reserved.
Calpains are calcium-modulated proteases which respond to Ca2+ signals by removing limited portions of protein substrates, thereby irreversibly modifying their function(s). Members of this protease family are present in a variety of organisms ranging from mammals to plants; some of them are ubiquitously expressed, while others are tissue specific. Although calpains are apparently involved in a multitude of physiological and pathological events, their functions are still poorly understood. In two cases, however, the alteration of a member of the calpain family has been clearly identified as being responsible for a human disease: the loss of function of calpain 3 causes limb girdle muscular dystrophy type 2A, and mutations in the gene coding for calpain 10 have been shown to correlate with non-insulin-dependent diabetes. (C) 2004 Elsevier Inc. All rights reserved.