Associated Papers
Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.
Zorn S et al.
Nature Medicine, 2025
41102563 (PubMed )
Supplement: 41591_2025_3976_MOESM2_ESM.xlsx › Table_S1
High-resolution deep mutational scanning of the melanocortin-4 receptor enables target characterization for drug discovery.
Howard CJ et al.
Elife, 2025
40202051 (PubMed )
Supplement: elife-104725-supp1.xlsx › Supplementary_File_1b
Reply to Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R.
Lotta L et al.
Cell, 2021
Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation.
Brouwers B et al.
Cell Reports, 2021
33761344 (PubMed )
Supplement: mmc2.xlsx › Table_S1
The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population.
Chami N et al.
Plos Medicine, 2020
Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity.
Lotta LA et al.
Cell, 2019
31002796 (PubMed )
Supplement: mmc1.pdf
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
Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.
Collet TH et al.
Molecular Metabolism, 2017
29031731 (PubMed )
Supplement: mmc2.xlsx › Table_S2
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
26229975 (PubMed )
Supplement: mmc1.docx
The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology.
Tao YX
Endocrine Reviews, 2010
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.
Tan K et al.
Endocrinology, 2009
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