Pharmacological Chaperones: Potential for the Treatment of Hereditary Diseases Caused by Mutations in G Protein-Coupled Receptors (Q56648598)

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Mutant G-protein-coupled receptors as a cause of human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

G protein-coupled time travel: evolutionary aspects of GPCR research

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

G protein-coupled receptor trafficking in health and disease: lessons learned to prepare for therapeutic mutant rescue in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Quality control in the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Quality Control and Protein Folding in the Secretory Pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

In and Out of the ER: Protein Folding, Quality Control, Degradation, and Related Human Diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Protein quality control in the early secretory pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

ERdj5 is required as a disulfide reductase for degradation of misfolded proteins in the ER

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Association of calnexin with wild type and mutant AVPR2 that causes nephrogenic diabetes insipidus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Association of the thyrotropin receptor with calnexin, calreticulin and BiP. Efects on the maturation of the receptor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Endoplasmic Reticulum Retention, Degradation, and Aggregation of Olfactory G‐Protein Coupled Receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Regulation of G protein-coupled receptor export trafficking.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

The Chaperone Environment at the Cytoplasmic Face of the Endoplasmic Reticulum Can Modulate Rhodopsin Processing and Inclusion Formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Role of N-glycan-dependent quality control in the cell-surface expression of the AT1 receptor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

An escort for GPCRs: implications for regulation of receptor density at the cell surface.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Quality control in the endoplasmic reticulum protein factory

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Folding proteins in fatal ways

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Protein-misfolding diseases and chaperone-based therapeutic approaches

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Pharmacological chaperone action on G-protein-coupled receptors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

21 January 2018

Conformational disease

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Protein misfolding, functional amyloid, and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Pharmacological chaperones in nephrogenic diabetes insipidus: possibilities for clinical application

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Cloning and expression of apical membrane water channel of rat kidney collecting tubule.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Expression and distribution of aquaporin of collecting duct are regulated by vasopressin V2 receptor in rat kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Distribution of the aquaporin CHIP in secretory and resorptive epithelia and capillary endothelia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

The role of putative phosphorylation sites in the targeting and shuttling of the aquaporin-2 water channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Identification of a novel A-kinase anchoring protein 18 isoform and evidence for its role in the vasopressin-induced aquaporin-2 shuttle in renal principal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Bidirectional regulation of AQP2 trafficking and recycling: involvement of AQP2-S256 phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

cAMP regulates vasopressin-induced AQP2 expression via protein kinase A-independent pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Palmitoylation of the V2 vasopressin receptor carboxyl tail enhances beta-arrestin recruitment leading to efficient receptor endocytosis and ERK1/2 activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

The V2 vasopressin receptor stimulates ERK1/2 activity independently of heterotrimeric G protein signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Insulin potentiates AVP-induced AQP2 expression in cultured renal collecting duct principal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Hormonal and cardiovascular responses to DDAVP in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Molecular biology of diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Vasopressin receptor mutations in nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Constitutive arrestin-mediated desensitization of a human vasopressin receptor mutant associated with nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Functional rescue of the constitutively internalized V2 vasopressin receptor mutant R137H by the pharmacological chaperone action of SR49059.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Rescue of vasopressin V2 receptor mutants by chemical chaperones: specificity and mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Pharmacochaperones post-translationally enhance cell surface expression by increasing conformational stability of wild-type and mutant vasopressin V2 receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Rescue of a nephrogenic diabetes insipidus-causing vasopressin V2 receptor mutant by cell-penetrating peptides

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Appropriate polarization following pharmacological rescue of V2 vasopressin receptors encoded by X-linked nephrogenic diabetes insipidus alleles involves a conformation of the receptor that also attains mature glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Retinitis pigmentosa: understanding the clinical presentation, mechanisms and treatment options

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Molecular genetics of human retinal dystrophies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Update on the molecular genetics of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Unfolding retinal dystrophies: a role for molecular chaperones?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Rhodopsin and retinitis pigmentosa: shedding light on structure and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

G protein-coupled receptor rhodopsin: a prospectus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Isolation and nucleotide sequence of the gene encoding human rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Crystal structure of rhodopsin: A G protein-coupled receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Molecular genetics of human retinal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Cysteine residues 110 and 187 are essential for the formation of correct structure in bovine rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Structure and function in rhodopsin: further elucidation of the role of the intradiscal cysteines, Cys-110, -185, and -187, in rhodopsin folding and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Structure and function in rhodopsin: Mass spectrometric identification of the abnormal intradiscal disulfide bond in misfolded retinitis pigmentosa mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Advances in Determination of a High-Resolution Three-Dimensional Structure of Rhodopsin, a Model of G-Protein-Coupled Receptors (GPCRs)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Site of attachment of 11-cis-retinal in bovine rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Opsins with mutations at the site of chromophore attachment constitutively activate transducin but are not phosphorylated by rhodopsin kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Glutamic acid-113 serves as the retinylidene Schiff base counterion in bovine rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

(1)H and (13)C MAS NMR evidence for pronounced ligand-protein interactions involving the ionone ring of the retinylidene chromophore in rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Retinitis pigmentosa rhodopsin mutations L125R and A164V perturb critical interhelical interactions: new insights through compensatory mutations and crystal structure analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Structure and function in rhodopsin: correct folding and misfolding in point mutants at and in proximity to the site of the retinitis pigmentosa mutation Leu-125-->Arg in the transmembrane helix C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Mutations at position 125 in transmembrane helix III of rhodopsin affect the structure and signalling of the receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Two adjacent cysteine residues in the C-terminal cytoplasmic fragment of bovine rhodopsin are palmitylated

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Three cytoplasmic loops of rhodopsin interact with transducin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Characterization of rhodopsin mutants that bind transducin but fail to induce GTP nucleotide uptake. Classification of mutant pigments by fluorescence, nucleotide release, and flash-induced light-scattering assays.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Mechanisms of rhodopsin inactivation in vivo as revealed by a COOH-terminal truncation mutant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Rhodopsin's carboxy-terminal cytoplasmic tail acts as a membrane receptor for cytoplasmic dynein by binding to the dynein light chain Tctex-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Identification of an outer segment targeting signal in the COOH terminus of rhodopsin using transgenic Xenopus laevis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Programmed cell death in retinal degeneration: targeting apoptosis in photoreceptors as potential therapy for retinal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Characterization of rhodopsin P23H-induced retinal degeneration in a Xenopus laevis model of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

IRE1 signaling affects cell fate during the unfolded protein response

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

X-Ray diffraction analysis of three-dimensional crystals of bovine rhodopsin obtained from mixed micelles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Thermal destabilization of rhodopsin and opsin by proteolytic cleavage in bovine rod outer segment disk membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

A high-throughput screening method for small-molecule pharmacologic chaperones of misfolded rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Addition of the chromophore to rat rhodopsin is an early post-translational event

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Biochemical and physiological properties of rhodopsin regenerated with 11-cis-6-ring- and 7-ring-retinals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

The genetics of hypogonadotropic hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Regulation of expression of mammalian gonadotrophin-releasing hormone receptor genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

G-protein-coupled receptor trafficking: understanding the chemical basis of health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Receptor-misrouting: an unexpectedly prevalent and rescuable etiology in gonadotropin-releasing hormone receptor-mediated hypogonadotropic hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Mutations in the human gonadotropin-releasing hormone receptor: insights into receptor biology and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Combined modification of intracellular and extracellular loci on human gonadotropin-releasing hormone receptor provides a mechanism for enhanced expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Protein origami: therapeutic rescue of misfolded gene products

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Newly synthesized human delta opioid receptors retained in the endoplasmic reticulum are retrotranslocated to the cytosol, deglycosylated, ubiquitinated, and degraded by the proteasome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Clinical and molecular genetics of the human GnRH receptor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Studies on the physiological functions of the melanocortin system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Anatomy and regulation of the central melanocortin system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Divergence of melanocortin pathways in the control of food intake and energy expenditure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Targeted disruption of the melanocortin-4 receptor results in obesity in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

A metabolic defect promotes obesity in mice lacking melanocortin-4 receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

A frameshift mutation in human MC4R is associated with a dominant form of obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

A frameshift mutation in MC4R associated with dominantly inherited human obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Inactivation and intracellular retention of the human I183N mutated melanocortin 3 receptor associated with obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Functional characterization of novel melanocortin-3 receptor mutations identified from obese subjects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Identification of novel putative membrane proteins selectively expressed during adipose conversion of 3T3-L1 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

MC1R and the response of melanocytes to ultraviolet radiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

The specificity of binding of glycoprotein hormones to their receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Allosteric activation of the follicle-stimulating hormone (FSH) receptor by selective, nonpeptide agonists.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Rescue of calcium-sensing receptor mutants by allosteric modulators reveals a conformational checkpoint in receptor biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Homozygous mutation within the conserved Ala-Phe-Asn-Glu-Thr motif of exon 7 of the LH receptor causes male pseudohermaphroditism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Constitutive and agonist-dependent self-association of the cell surface human lutropin receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Functional characterization of the human FSH receptor with an inactivating Ala189Val mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Hirschsprung disease, associated syndromes and genetics: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Naturally-occurring missense mutations in the human growth hormone-releasing hormone receptor alter ligand binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

A Homozygous Inactivating Mutation in the Parathyroid Hormone/Parathyroid Hormone-Related Peptide Receptor Causing Blomstrand Chondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

A Frame-Shift Mutation in the Type I Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Causing Blomstrand Lethal Osteochondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Ligands act as pharmacological chaperones and increase the efficiency of delta opioid receptor maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Mutant Frizzled 4 associated with vitreoretinopathy traps wild-type Frizzled in the endoplasmic reticulum by oligomerization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Defective intracellular transport is the molecular basis of rhodopsin-dependent dominant retinal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Rhodopsin maturation antagonized by dominant rhodopsin mutants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Organization of the G protein-coupled receptors rhodopsin and opsin in native membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Oligomerization of G-protein-coupled transmitter receptors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Conversion of a gonadotropin-releasing hormone antagonist to an agonist

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Human loss-of-function gonadotropin-releasing hormone receptor mutants retain wild-type receptors in the endoplasmic reticulum: molecular basis of the dominant-negative effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Autosomal-dominant mode of inheritance of a melanocortin-4 receptor mutation in a patient with severe early-onset obesity is due to a dominant-negative effect caused by receptor dimerization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

LH receptor gene mutations and polymorphisms: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Thyrotropin receptor-associated diseases: from adenomata to Graves disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Obesity-associated mutations in the melanocortin 4 receptor provide novel insights into its function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Clinical lessons from the calcium-sensing receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Inhibition of Hedgehog signaling by direct binding of cyclopamine to Smoothened

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Correction of defective protein trafficking of a mutant HERG potassium channel in human long QT syndrome. Pharmacological and temperature effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Sildenafil (Viagra) corrects DeltaF508-CFTR location in nasal epithelial cells from patients with cystic fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Sulfonylureas correct trafficking defects of ATP-sensitive potassium channels caused by mutations in the sulfonylurea receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Galactonojirimycin derivatives restore mutant human beta-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

High-throughput screening for human lysosomal beta-N-Acetyl hexosaminidase inhibitors acting as pharmacological chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Restoration of the tumor suppressor function to mutant p53 by a low-molecular-weight compound.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Rescue of mutants of the tumor suppressor p53 in cancer cells by a designed peptide

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

6-mer peptide selectively anneals to a pathogenic serpin conformation and blocks polymerization. Implications for the prevention of Z alpha(1)-antitrypsin-related cirrhosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Inhibiting polymerization: new therapeutic strategies for Z alpha1-antitrypsin-related emphysema.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Small molecules block the polymerization of Z alpha1-antitrypsin and increase the clearance of intracellular aggregates

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Acridine and phenothiazine derivatives as pharmacotherapeutics for prion disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Chemical Chaperones: Mechanisms of Action and Potential Use

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Three New Mutations in the Gene for the Growth Hormone (GH)-Releasing Hormone Receptor in Familial Isolated GH Deficiency Type IB

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Site of Attachment of Retinal in Rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17

Rhodopsin dimers in native disc membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470627327.CH17