Article
Restoration of testis function in hypogonadotropic hypogonadal mice harboring a misfolded GnRHR mutant by pharmacoperone drug therapy.
Proceedings of the National Academy of Sciences of the United States of America - 24 Dec 2013
Janovick Jo Ann, Stewart M David, Jacob Darla, Martin L D, Deng Jian Min, Stewart C Allison, Wang Ying, Cornea Anda, Chavali Lakshmi, Lopez Suhujey, Mitalipov Shoukhrat, Kang Eunju, Lee Hyo-Sang, Manna Pulak R, Stocco Douglas M, Behringer Richard R, Conn P Michael
Abstract excerpt
Mutations in receptors, ion channels, and enzymes are frequently recognized by the cellular quality control system as misfolded and retained in the endoplasmic reticulum (ER) or otherwise misrouted. Retention results in loss of function at the normal site of biological activity and disease. Pharmacoperones are target-specific small molecules that diffuse into cells and serve as folding templates that enable...
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