Misrouted cell surface receptors as a novel disease aetiology and potential therapeutic target: the case of hypogonadotropic hypogonadism due to gonadotropin-releasing hormone resistance

No abstract is available for this paper.

• Publication year

  2003

• Venue

  Expert opinion on therapeutic targets

• Publication date

  2003-04-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1517/14728222.7.2.175PMID 12667096
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site.

  2002influential reference
• Molecular Chaperones in the Cytosol: from Nascent Chain to Folded Protein

  2002cited by this paper
• G protein-coupled receptor interacting proteins: emerging roles in localization and signal transduction.

  2002cited by this paper
• Receptor-misrouting: an unexpectedly prevalent and rescuable etiology in gonadotropin-releasing hormone receptor-mediated hypogonadotropic hypogonadism.

  2002cited by this paper
• Ligands act as pharmacological chaperones and increase the efficiency of δ opioid receptor maturation

  2002cited by this paper
• The linkage between protein folding and functional cooperativity: two sides of the same coin?

  2002cited by this paper
• Quality control in the secretory assembly line.

  2001cited by this paper
• Orally bioavailable, indole-based nonpeptide GnRH receptor antagonists with high potency and functional activity.

  2001influential reference
• Nephrogenic diabetes insipidus.

  2001cited by this paper
• Potent nonpeptide GnRH receptor antagonists derived from substituted indole-5-carboxamides and -acetamides bearing a pyridine side-chain terminus.

  2001influential reference
• Molecular and cellular defects in nephrogenic diabetes insipidus

  2001cited by this paper
• Inherited disorders of GnRH and gonadotropin receptors.

  2001influential reference
• Association of calnexin with wild type and mutant AVPR2 that causes nephrogenic diabetes insipidus.

  2001cited by this paper
• A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene

  2001cited by this paper
• Functional Rescue of the Nephrogenic Diabetes Insipidus-causing Vasopressin V2 Receptor Mutants G185C and R202C by a Second Site Suppressor Mutation*

  2001cited by this paper
• Substituted indole-5-carboxamides and -acetamides as potent nonpeptide GnRH receptor antagonists.

  2001influential reference
• ER quality control: towards an understanding at the molecular level.

  2001cited by this paper
• Proteins wriggle.

  2001cited by this paper
• Newly Synthesized Human δ Opioid Receptors Retained in the Endoplasmic Reticulum Are Retrotranslocated to the Cytosol, Deglycosylated, Ubiquitinated, and Degraded by the Proteasome*

  2001cited by this paper
• Pharmacological chaperones: a new twist on receptor folding.

  2000cited by this paper
• Biochemical and functional aspects of gonadotrophin-releasing hormone and gonadotrophins.

  2000cited by this paper
• Export from the Endoplasmic Reticulum Represents the Limiting Step in the Maturation and Cell Surface Expression of the Human δ Opioid Receptor*

  2000cited by this paper
• Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants.

  2000cited by this paper
• Misfolding of membrane proteins in health and disease: the lady or the tiger?

  2000cited by this paper
• STILL SPECIAL AFTER ALL THESE YEARS

  2000cited by this paper
• From Computer Simulations Meeting Review to Human Disease: Emerging Themes in Protein Folding

  1999cited by this paper
• Temperature-sensitive ZAP70 Mutants Degrading through a Proteasome-independent Pathway

  1999cited by this paper
• Correction of Defective Protein Trafficking of a Mutant HERG Potassium Channel in Human Long QT Syndrome

  1999cited by this paper
• Vasopressin receptor mutations and nephrogenic diabetes insipidus.

  1999cited by this paper
• Mutations of the GnRH receptor gene: a new cause of autosomal-recessive hypogonadotropic hypogonadism.

  1999cited by this paper
• Setting the standards: quality control in the secretory pathway.

  1999cited by this paper
• Introduction: molecular chaperones of the ER: their role in protein folding and genetic disease.

  1999cited by this paper
• From computer simulations to human disease: emerging themes in protein folding.

  1999cited by this paper
• Structure-activity relationships of G protein-coupled receptors.

  1999cited by this paper
• Biological activity and pathological implications of misfolded proteins

  1999cited by this paper
• Addition of catfish gonadotropin-releasing hormone (GnRH) receptor intracellular carboxyl-terminal tail to rat GnRH receptor alters receptor expression and regulation.

  1998cited by this paper
• Odorant receptor localization to olfactory cilia is mediated by ODR-4, a novel membrane-associated protein.

  1998cited by this paper
• Analysis of two duplications of the LDL receptor gene affecting intracellular transport, catabolism, and surface binding of the LDL receptor.

  1998cited by this paper
• Association of gonadotropin receptor precursors with the protein folding chaperone calnexin.

  1998cited by this paper
• Agonist-induced endocytosis and recycling of the gonadotropin-releasing hormone receptor: effect of beta-arrestin on internalization kinetics.

  1998cited by this paper
• A single amino acid substitution in transmembrane helix VI results in overexpression of the human GnRH receptor.

  1998cited by this paper
• Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones.

  1998cited by this paper
• Correcting temperature-sensitive protein folding defects.

  1997cited by this paper
• Molecular mechanisms of ligand interaction with the gonadotropin-releasing hormone receptor.

  1997cited by this paper
• Molecular and cellular defects in nephrogenic diabetes insipidus.

  1996cited by this paper
• Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments.

  1996cited by this paper
• Glycerol Reverses the Misfolding Phenotype of the Most Common Cystic Fibrosis Mutation (*)

  1996cited by this paper
• Cytoplasmic Domain of Rhodopsin Is Essential for Post-Golgi Vesicle Formation in a Retinal Cell-free System (*)

  1996cited by this paper
• Quality control in the secretory pathway.

  1995cited by this paper
• Subregional mapping of the human gonadotropin-releasing hormone receptor (GnRH-R) gene to 4q between the markers D4S392 and D4S409

  1995cited by this paper
• Molecular genetics of retinitis pigmentosa.

  1995cited by this paper
• Functional activation of the cystic fibrosis trafficking mutant delta F508-CFTR by overexpression.

  1995cited by this paper
• Crystal structure of the zeta isoform of the 14-3-3 protein

  1995cited by this paper
• A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment

  1994cited by this paper
• The cyclophilin homolog NinaA functions as a chaperone, forming a stable complex in vivo with its protein target rhodopsin.

  1994cited by this paper
• Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis.

  1993cited by this paper
• On the molecular genetics of retinitis pigmentosa.

  1992cited by this paper
• Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

  1992influential reference
• Gonadotropin-releasing hormone and its analogues.

  1991cited by this paper
• The cyclophilin homolog ninaA is required in the secretory pathway.

  1991cited by this paper
• Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa.

  1991cited by this paper
• The effects of nicotinamide and hyperbaric oxygen on skin flap survival.

  1991cited by this paper
• Gonadotropin-releasing hormone and its analogues.

  1991cited by this paper
• The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.

  1990cited by this paper
• Drosophila ninaA gene encodes an eye-specific cyclophilin (cyclosporine A binding protein).

  1989cited by this paper
• The ninaA gene required for visual transduction in Drosophila encodes a homologue of cyclosporin A-binding protein

  1989cited by this paper
• The Journal of Clinical Endocrinology & Metabolism Printed in U.S.A. Copyright © 1999 by The Endocrine Society Complete Hypogonadotropic Hypogonadism Associated with a Novel Inactivating Mutation of the Gonadotropin- Releasing Hormone Receptor*

  year unknowncited by this paper
• 0013-7227/02/$15.00/0 The Journal of Clinical Endocrinology & Metabolism 87(7):3255–3262 Printed in U.S.A. Copyright © 2002 by The Endocrine Society Rescue of Hypogonadotropic Hypogonadism-Causing and Manufactured GnRH Receptor Mutants by a Specific Prote

  year unknowninfluential reference

• The Gonadotropin-Releasing Hormone and Its Receptor

  2017cites this paper
• Assay strategies for identification of therapeutic leads that target protein trafficking.

  2015cites this paper
• Mutations in G protein-coupled receptors that impact receptor trafficking and reproductive function.

  2014cites this paper
• Therapeutic rescue of misfolded/mistrafficked mutants: automation-friendly high-throughput assays for identification of pharmacoperone drugs of GPCRs.

  2013cites this paper
• GPCR Signalling Complexes – Synthesis, Assembly, Trafficking and Specificity

  2012cites this paper
• Rescue of misrouted GnRHR mutants reveals its constitutive activity.

  2012cites this paper
• Discovery and validation of potential drug targets based on the phylogenetic evolution of GPCRs

  2012cites this paper
• Pharmacological chaperones correct misfolded GPCRs and rescue function: protein trafficking as a therapeutic target.

  2012cites this paper
• Pharmacoperones: a new therapeutic approach for diseases caused by misfolded G protein-coupled receptors.

  2011cites this paper
• Therapeutic Rescue of Misfolded Mutants: Validation of Primary High Throughput Screens for Identification of Pharmacoperone Drugs

  2011cites this paper
• Pharmacoperone Identification for Therapeutic Rescue of Misfolded Mutant Proteins

  2011cites this paper
• Pharmacological chaperones for misfolded gonadotropin-releasing hormone receptors.

  2011influential citation
• Salt bridge integrates GPCR activation with protein trafficking

  2010cites this paper
• Use of pharmacoperones to reveal GPCR structural changes associated with constitutive activation and trafficking.

  2010cites this paper
• Genetic labeling and functional characterization of GnRH target cells in the house mouse (Mus musculus (Linnaeus, 1758))

  2010cites this paper
• 51 – The Gonadotropin-Releasing Hormone and Its Receptor

  2009cites this paper
• Targeting of G protein-coupled receptors to the plasma membrane in health and disease.

  2009cites this paper
• Trafficking and quality control of the gonadotropin releasing hormone receptor in health and disease.

  2009influential citation
• The melanocortin-1 receptor gene polymorphism and association with human skin cancer.

  2009cites this paper
• Drug development and the cellular quality control system.

  2009cites this paper
• G Protein-Coupled Receptor Trafficking in Health and Disease: Lessons Learned to Prepare for Therapeutic Mutant Rescue in Vivo

  2007cites this paper
• Refolding of misfolded mutant GPCR: post-translational pharmacoperone action in vitro.

  2007cites this paper
• Specializations of a G‐protein‐coupled receptor that appear to aid with detection of frequency‐modulated signals from its ligand

  2007cites this paper
• 'Effective inefficiency': cellular control of protein trafficking as a mechanism of post-translational regulation.

  2006cites this paper
• Regulation of G Protein-coupled Receptor Trafficking by Inefficient Plasma Membrane Expression

  2006cites this paper
• Molecular biology of gonadotropin-releasing hormone (GnRH)-I, GnRH-II, and their receptors in humans.

  2005cites this paper
• Protein misfolding and misprocessing in complex disease.

  2005cites this paper
• In vitro coexpression and pharmacological rescue of mutant gonadotropin-releasing hormone receptors causing hypogonadotropic hypogonadism in humans expressing compound heterozygous alleles.

  2005cites this paper
• Beyond the signal sequence: protein routing in health and disease.

  2005cites this paper
• Parallel Regulation of Membrane Trafficking and Dominant-negative Effects by Misrouted Gonadotropin-releasing Hormone Receptor Mutants*

  2005cites this paper
• Pharmacological chaperones: potential treatment for conformational diseases.

  2004cites this paper
• The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.

  2004cites this paper
• Gonadotropin-Releasing Hormone Receptor Gene, Mutation of

  2004cites this paper
• Pharmacological chaperone action on G-protein-coupled receptors.

  2004cites this paper
• 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.

  2003cites this paper
• Evolved regulation of gonadotropin-releasing hormone receptor cell surface expression

  2003cites this paper
• Unexpected effects of epitope and chimeric tags on gonadotropin-releasing hormone receptors: implications for understanding the molecular etiology of hypogonadotropic hypogonadism.

  2003cites this paper