title: Protein folding and deficiencies caused by dominant-negative mutants of hormones.
abstract: Protein folding and transport in the secretory pathway of cells is a controlled process, facilitated by chaperones. Proteins that do not fold well elicit several different programmed responses from the cells. A comparison of mutants of growth hormone that result in growth hormone deficiency suggests that cells do not respond in the same way to all growth hormone mutants that cannot fold, because some mutants are dominant and some are recessive. Causes for autosomal dominant hormone deficiencies include accumulation of toxic or dysfunctional forms, competition for chaperones important for folding or transport, induction of protein degradation in the endoplasmic reticulum, or long-term responses of the cells to synthesis of proteins that do not fold that decrease hormone synthesis or cell viability.
authors.affiliation: Department of Pharmacology, Yale School of Medicine, New Haven, Connecticut 06510, USA.
authors.forename: P S
authors.initials: PS
authors.lastname: Dannies
mesh_terms: D000818:Animals; D004721:Endoplasmic Reticulum / Q000502:physiology; D006728:Hormones / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D019382:Human Growth Hormone; D006801:Humans; D009154:Mutation; D009490:Neurosecretory Systems; D011388:Prolactin; D017510:Protein Folding; D014667:Vasopressins
chemical_list: D006728:Hormones; D014667:Vasopressins; D019382:Human Growth Hormone; D011388:Prolactin