Article
Misfolding Ectodomain Mutations of the Lutropin Receptor Increase Efficacy of Hormone Stimulation.
Molecular endocrinology (Baltimore, Md.) - 1 Jan 2016
Charmandari E, Guan R, Zhang M, Silveira L G, Fan Q R, Chrousos G P, Sertedaki A C, Latronico A C, Segaloff D L
Abstract excerpt
We demonstrate 2 novel mutations of the LHCGR, each homozygous, in a 46,XY patient with severe Leydig cell hypoplasia. One is a mutation in the signal peptide (p.Gln18_Leu19ins9; referred to here as SP) that results in an alteration of the coding sequence of the N terminus of the mature mutant receptor. The other mutation (p.G71R) is also within the ectodomain. Similar to many other inactivating mutations, the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.