Article
Human loss-of-function gonadotropin-releasing hormone receptor mutants retain wild-type receptors in the endoplasmic reticulum: molecular basis of the dominant-negative effect.
Molecular endocrinology (Baltimore, Md.) - 1 Jul 2004
Brothers Shaun P, Cornea Anda, Janovick Jo Ann, Conn P Michael
Abstract excerpt
The GnRH receptor (GnRHR) is a heptahelical G protein-coupled receptor found in the plasma membrane of pituitary gonadotropes. GnRHR mutants isolated from patients with hypogonadotropic hypogonadism (HH) are frequently mislocalized proteins that can be restored to function by pharmacological chaperones. Nonfunctional HH mutants inhibit ligand binding and ligand-activated second messenger production by wild-type...
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