Associated Papers
Restoring function to inactivating G protein-coupled receptor variants in the hypothalamic-pituitary-gonadal axis1.
Radomsky T et al.
Journal of Neuroendocrinology, 2024
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.
Fanis P et al.
International Journal of Molecular Sciences, 2023
Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis.
Yanagida K et al.
Human Molecular Genetics, 2023
A Comprehensive Analysis of Cutaneous Melanoma Patients in Greece Based on Multi-Omic Data.
Kontogianni G et al.
Cancers, 2023
Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.
Ulloa-Aguirre A et al.
International Journal of Molecular Sciences, 2021
Rescue of mutant gonadotropin-releasing hormone receptor function independent of cognate receptor activity.
Smith E et al.
Scientific Reports, 2020
Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature.
Cioppi F et al.
Andrology, 2019
Pharmacoperone drugs: targeting misfolded proteins causing lysosomal storage-, ion channels-, and G protein-coupled receptors-associated conformational disorders.
Hou ZS et al.
Expert Review of Clinical Pharmacology, 2018
Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases.
Tao YX et al.
Physiological Reviews, 2018
Pharmacoperones for Misfolded Gonadotropin Receptors.
Newton CL et al.
Handbook of Experimental Pharmacology, 2018
The safety dance: biophysics of membrane protein folding and misfolding in a cellular context.
Schlebach JP et al.
Quarterly Reviews of Biophysics, 2015
Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism.
Méndez JP et al.
Endocrine Research, 2015
Pharmacological chaperoning: a primer on mechanism and pharmacology.
Leidenheimer NJ et al.
Pharmacological Research, 2014
Restoration of testis function in hypogonadotropic hypogonadal mice harboring a misfolded GnRHR mutant by pharmacoperone drug therapy.
Janovick JA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Mice harboring Gnrhr E90K, a mutation that causes protein misfolding and hypogonadotropic hypogonadism in humans, exhibit testis size reduction and ovulation failure.
Stewart MD et al.
Molecular Endocrinology (baltimore, Md.), 2012
Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling.
Tello JA et al.
Plos One, 2012
GnRH receptor mutations in isolated gonadotropic deficiency.
Chevrier L et al.
Molecular and Cellular Endocrinology, 2011
G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.
Noel SD et al.
Molecular and Cellular Endocrinology, 2011
Salt bridges overlapping the gonadotropin-releasing hormone receptor agonist binding site reveal a coincidence detector for G protein-coupled receptor activation.
Janovick JA et al.
The Journal of Pharmacology and Experimental Therapeutics, 2011
Pharmacological chaperones for misfolded gonadotropin-releasing hormone receptors.
Conn PM et al.
Advances in Pharmacology (san Diego, Calif.), 2011
Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships.
Brioude F et al.
European Journal of Endocrinology, 2010
Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations.
Kim HG et al.
Frontiers of Hormone Research, 2010
Drug development and the cellular quality control system.
Conn PM et al.
Trends in Pharmacological Sciences, 2009
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.
Tan K et al.
Endocrinology, 2009
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Calnexin regulated gonadotropin-releasing hormone receptor plasma membrane expression.
Brothers SP et al.
Journal of Molecular Endocrinology, 2006
The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism.
Bhagavath B et al.
Fertility and Sterility, 2005
Parallel regulation of membrane trafficking and dominant-negative effects by misrouted gonadotropin-releasing hormone receptor mutants.
Knollman PE et al.
The Journal of Biological Chemistry, 2005
In vitro coexpression and pharmacological rescue of mutant gonadotropin-releasing hormone receptors causing hypogonadotropic hypogonadism in humans expressing compound heterozygous alleles.
Leaños-Miranda A et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation.
Pask AJ et al.
Molecular Endocrinology (baltimore, Md.), 2005
Molecular genetics of isolated hypogonadotropic hypogonadism and Kallmann syndrome.
Karges B et al.
Endocrine Development, 2005
The G protein-coupled receptors: pharmacogenetics and disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2005
Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease.
Ulloa-Aguirre A et al.
Traffic (copenhagen, Denmark), 2004
Human loss-of-function gonadotropin-releasing hormone receptor mutants retain wild-type receptors in the endoplasmic reticulum: molecular basis of the dominant-negative effect.
Brothers SP et al.
Molecular Endocrinology (baltimore, Md.), 2004
Dominant-negative action of disease-causing gonadotropin-releasing hormone receptor (GnRHR) mutants: a trait that potentially coevolved with decreased plasma membrane expression of GnRHR in humans.
Leaños-Miranda A et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Two common naturally occurring mutations in the human gonadotropin-releasing hormone (GnRH) receptor have differential effects on gonadotropin gene expression and on GnRH-mediated signal transduction.
Bedecarrats GY et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Rescue of hypogonadotropic hypogonadism-causing and manufactured GnRH receptor mutants by a specific protein-folding template: misrouted proteins as a novel disease etiology and therapeutic target.
Janovick JA et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene.
Söderlund D et al.
Clinical Endocrinology, 2001
Clinical and molecular genetics of the human GnRH receptor.
Karges B et al.
Human Reproduction Update, 0
Misrouted cell surface GnRH receptors as a disease aetiology for congenital isolated hypogonadotrophic hypogonadism.
Ulloa-Aguirre A et al.
Human Reproduction Update, 0
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0