Restoration of testis function in hypogonadotropic hypogonadal mice harboring a misfolded GnRHR mutant by pharmacoperone drug therapy

Significance Many diseases result from genetic mutations that cause protein misfolding. Medical treatments often address the symptoms, but do not correct the underlying etiology. This study illustrates proof of principle that a disease caused by a misfolded cell surface receptor can be corrected with a pharmacoperone, a unique class of target-specific drugs that assist protein...