Associated Papers
Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.
Zorn S et al.
Nature Medicine, 2025
High-resolution deep mutational scanning of the melanocortin-4 receptor enables target characterization for drug discovery.
Howard CJ et al.
Elife, 2025
Medical semiology of patients with monogenic obesity: A systematic review.
Renard E et al.
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024
Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability.
Moore BS et al.
Scientific Reports, 2018
Pharmacological chaperones for the misfolded melanocortin-4 receptor associated with human obesity.
Huang H et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
The role of common and rare MC4R variants and FTO polymorphisms in extreme form of obesity.
Rovite V et al.
Molecular Biology Reports, 2014
Do common variants separate between obese melanocortin-4 receptor gene mutation carriers and non-carriers? The impact of cryptic relatedness.
Mühlhaus J et al.
Hormone Research in Paediatrics, 2012
Investigation of a genome wide association signal for obesity: synthetic association and haplotype analyses at the melanocortin 4 receptor gene locus.
Scherag A et al.
Plos One, 2010
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.
Granell S et al.
Molecular Endocrinology (baltimore, Md.), 2010
The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology.
Tao YX
Endocrine Reviews, 2010
Specific ligands as pharmacological chaperones: The transport of misfolded G-protein coupled receptors to the cell surface.
Nakamura M et al.
Iubmb Life, 2010
Pertussis toxin-sensitive signaling of melanocortin-4 receptors in hypothalamic GT1-7 cells defines agouti-related protein as a biased agonist.
Büch TR et al.
The Journal of Biological Chemistry, 2009
[Melanocortin-4 receptor gene mutations associated with obesity].
Kobayashi H
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist.
Xiang Z et al.
Biochemistry, 2006
Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany.
Hinney A et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Obesity-associated mutations in the human melanocortin-4 receptor gene.
MacKenzie RG
Peptides, 2006
Gene polymorphisms and their effects in the melanocortin system.
Carroll L et al.
Peptides, 2005
Six novel mutations in the proopiomelanocortin and melanocortin receptor 4 genes in severely obese adults living in southern Italy.
Buono P et al.
Clinical Chemistry, 2005
Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity.
Tao YX
Molecular and Cellular Endocrinology, 2005
Large quantitative effect of melanocortin-4 receptor gene mutations on body mass index.
Dempfle A et al.
Journal of Medical Genetics, 2004
Binge-eating episodes are not characteristic of carriers of melanocortin-4 receptor gene mutations.
Hebebrand J et al.
Molecular Psychiatry, 2004
Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity.
Tao YX et al.
Endocrinology, 2003
Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.
Hinney A et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity.
Nijenhuis WA et al.
The Journal of Biological Chemistry, 2003
Cell surface expression of the melanocortin-4 receptor is dependent on a C-terminal di-isoleucine sequence at codons 316/317.
VanLeeuwen D et al.
The Journal of Biological Chemistry, 2003
Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.
Lubrano-Berthelier C et al.
Human Molecular Genetics, 2003
Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.
Farooqi IS et al.
The Journal of Clinical Investigation, 2000
Monogenic disorders of obesity and body fat distribution.
Chen D et al.
Journal of Lipid Research, 1999