Functional characterization of mutations in melanocortin-4 receptor associated with human obesity

Melanocortin-4 receptor (MC4R) is a G protein-coupled receptor implicated in the regulation of body weight. Genetic studies in humans have identified two frameshift mutations of MC4R associated with a dominantly inherited form of obesity. We have generated and expressed the corresponding MC4R mutant...

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Veröffentlicht in:	The Journal of biological chemistry 1999-12, Vol.274 (50), p.35816-35822
Hauptverfasser:	Ho, G, MacKenzie, R.G
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenylyl Cyclases - metabolism Amino Acid Sequence Amino Acid Substitution Animals binding biosynthesis Cell Line Cell Membrane - metabolism COS Cells cyclic AMP Frameshift Mutation hormone receptors Humans immunocytochemistry Kinetics melanotropins Models, Molecular Molecular Sequence Data Mutagenesis, Site-Directed mutants Mutation obesity Obesity - genetics plasma membrane Protein Conformation Protein Structure, Secondary Receptor, Melanocortin, Type 4 Receptors, Peptide - chemistry Receptors, Peptide - genetics Receptors, Peptide - metabolism Recombinant Proteins - chemistry Recombinant Proteins - metabolism Sequence Deletion Transfection
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