Functional analysis of melanocortin-4-receptor mutants identified in severely obese subjects living in Southern Italy

The melanocortin-4 receptor (MC4R) is involved in regulating energy homeostasis; mutations in this gene have been associated with 1–5% of early-onset human obesity. The aim of this study was to functionally characterize MC4R mutations identified in morbidly obese subjects living in Southern Italy. W...

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Veröffentlicht in:	Gene 2010-06, Vol.457 (1), p.35-41
Hauptverfasser:	Alfieri, Andreina, Pasanisi, Fabrizio, Salzano, Salvatore, Esposito, Luciana, Martone, Domenico, Tafuri, Domenico, Daniele, Aurora, Contaldo, Franco, Sacchetti, Lucia, Zagari, Adriana, Buono, Pasqualina
Format:	Artikel
Sprache:	eng
Schlagworte:	alpha-MSH - metabolism alpha-MSH - pharmacology Amino Acid Substitution - genetics Amino Acid Substitution - physiology Cells, Cultured Confocal microscopy Dominant negative Functional analysis Homology modeling Humans Italy Ligands MC4R mutants Mitogen-Activated Protein Kinase 1 - metabolism Mitogen-Activated Protein Kinase 3 - metabolism Models, Molecular Mutant Proteins - genetics Mutant Proteins - metabolism Mutant Proteins - physiology Obesity, Morbid - genetics Phosphorylation - drug effects Protein Binding Receptor, Melanocortin, Type 4 - genetics Receptor, Melanocortin, Type 4 - metabolism Receptor, Melanocortin, Type 4 - physiology Severe obesity Signal Transduction - drug effects Signal Transduction - genetics Structure-Activity Relationship Tissue Distribution - drug effects Transfection
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