Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations. - Wikidata - wikimedia - TriplyDB

Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.

Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.

http://www.wikidata.org/entity/Q40681335

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The role of proopiomelanocortin (POMC) neurones in feeding behaviour Recent advances in understanding leptin signaling and leptin resistance Leptin signaling and leptin resistance The cytosolic chaperone Hsc70 promotes traffic to the cell surface of intracellular retained melanocortin-4 receptor mutants A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding How genetic errors in GPCRs affect their function: Possible therapeutic strategies Engineering the melanocortin-4 receptor to control constitutive and ligand-mediated G(S) signaling in vivo.Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity.A de novo genome assembly algorithm for repeats and nonrepeats Chaperoning G protein-coupled receptors: from cell biology to therapeutics Obesity-linked variants of melanocortin-4 receptor are misfolded in the endoplasmic reticulum and can be rescued to the cell surface by a chemical chaperone.Mahoganoid and mahogany mutations rectify the obesity of the yellow mouse by effects on endosomal traffic of MC4R protein Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene.Identification of tetrapeptides from a mixture based positional scanning library that can restore nM full agonist function of the L106P, I69T, I102S, A219V, C271Y, and C271R human melanocortin-4 polymorphic receptors (hMC4Rs).Missense mutations and polymorphisms of the MC4R gene in Polish obese children and adolescents in relation to the relative body mass index Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants.Functional studies on twenty novel naturally occurring melanocortin-4 receptor mutations.Protein biomarkers for the early detection of breast cancer.Protein traffic disorders: an effective high-throughput fluorescence microscopy pipeline for drug discovery.Recent developments in our understanding of melanocortin system in the regulation of food intake.Medical sequencing at the extremes of human body mass.hMRAPα, but Not hMRAP2, Enhances hMC4R Constitutive Activity in HEK293 Cells and This Is Not Dependent on hMRAPα Induced Changes in hMC4R Complex N-linked Glycosylation.The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology.The MC4 receptor and control of appetite.Biology of HPV in HIV infection.Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.Mechanism of N-terminal modulation of activity at the melanocortin-4 receptor GPCR.Genetics of type 2 diabetes mellitus and obesity--a review.Voluntary exercise prevents the obese and diabetic metabolic syndrome of the melanocortin-4 receptor knockout mouse.Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.Mapping the structural requirements in the CB1 cannabinoid receptor transmembrane helix II for signal transduction Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.Mouse models for the central melanocortin system.Mild lipid stress induces profound loss of MC4R protein abundance and function.Differential body weight, blood pressure and placental inflammatory responses to normal versus high-fat diet in melanocortin-4 receptor-deficient pregnant rats.Functions for pro-opiomelanocortin-derived peptides in obesity and diabetes.Programming towards childhood obesity.Pharmacological chaperones increase the cell-surface expression of intracellularly retained mutants of the melanocortin 4 receptor with unique rescuing efficacy profiles.Eating behaviour in obese patients with melanocortin-4 receptor mutations: a literature review.Pharmacological characterization of 30 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists, synthetic agonists, and the endogenous agouti-related protein antagonist.

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P2860

Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.

http://www.wikidata.org/entity/Q40681335

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2003 nî lūn-bûn

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Intracellular retention is a c ...... ity-associated MC4R mutations.

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Intracellular retention is a c ...... ity-associated MC4R mutations.

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Intracellular retention is a c ...... ity-associated MC4R mutations.

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Human Molecular Genetics

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Astrid Shapiro

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Beatrice Dubern

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Camille Ferron

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Cecile Lubrano-Berthelier

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Christian Vaisse

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Emmanuelle Durand

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10.1093/HMG/DDG016

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2

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12

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Philippe Froguel

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