Calpain-related diseases

被引:47
作者
Branca, D
机构
[1] Univ Padua, Dipartimento Chim Biol, I-35121 Padua, Italy
[2] Venetian Inst Mol Med, I-35121 Padua, Italy
关键词
D O I
10.1016/j.bbrc.2004.07.126
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:1098 / 1104
页数:7
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