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Trends Endocrinol Metab. 2004 Jul;15(5):222-8.

Pharmacological chaperones: potential treatment for conformational diseases.

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Département de Biochimie and Le Groupe de Recherche sur le Système Nerveux Autonome, Université de Montréal, H3T 1J4, Canada.


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 strategy for the treatment of conformational diseases.

[Indexed for MEDLINE]

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