Pharmacological chaperones:: potential treatment for conformational diseases

被引：214

作者：

Bernier, V

Lagacé, M

Bichet, DG

Bouvier, M ^{[1
]}

机构：

[1] Univ Montreal, Dept Biochem, Montreal, PQ H3T 1J4, Canada

[2] Univ Montreal, Grp Rech Syst Nerveux Autonome, Montreal, PQ H3T 1J4, Canada

[3] Hop Sacre Coeur, Ctr Rech, Unite Rech Clin, Montreal, PQ H4J 1C5, Canada

[4] Hop Sacre Coeur, Serv Nephrol, Montreal, PQ H4J 1C5, Canada

[5] Univ Montreal, Dept Med, Montreal, PQ H4J 1C5, Canada

来源：

TRENDS IN ENDOCRINOLOGY AND METABOLISM | 2004年 / 15卷 / 05期

关键词：

D O I：

10.1016/j.tem.2004.05.003

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Increasing numbers of inherited diseases are found to result from mutations that lead to misfolded proteins. In many cases, the changes in conformation are relatively modest and the function of the protein would not be predicted to be affected. Yet, these proteins are recognized as 'misfolded' and degraded prematurely. Recently, small molecules known as chemical and pharmacological chaperones were found to stabilize such mutant proteins and facilitate their trafficking to their site of action. Here, we review the recent published evidence suggesting that pharmacological chaperones represent promising avenues for the treatment of endocrine and metabolic diseases such as hyperinsulinemic hypoglycemia, hypogonadotropic hypogonadism and nephrogenic diabetes insipidus, and might become a general therapeutic stategy for the treatment of conformational diseases.

引用

页码：222 / 228

页数：7

共 60 条

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