2008
DOI: 10.1210/jc.2008-0048
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A Novel Adrenocorticotropin Receptor Mutation Alters Its Structure and Function, Causing Familial Glucocorticoid Deficiency

Abstract: We propose a molecular explanation for the reduced activity exhibited by the MC2R alanine 126 by serine mutant.

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Cited by 13 publications
(9 citation statements)
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“…1). The majority of the MC2R mutations have been previously reported, [13][14][15][16][17][18][19][20][21][22][23][24][25] and of these the S74I mutation was present in 18 patients. All nine mutations have previously been reported for FGD type 2.…”
Section: Resultsmentioning
confidence: 98%
“…1). The majority of the MC2R mutations have been previously reported, [13][14][15][16][17][18][19][20][21][22][23][24][25] and of these the S74I mutation was present in 18 patients. All nine mutations have previously been reported for FGD type 2.…”
Section: Resultsmentioning
confidence: 98%
“…However, neither mg nor md can rescue the obesity associated with MC4R-null mutations (21), and neither mutant is protected from obesity caused by ubiquitous overexpression of AGRP, 4 the physiological MC4R…”
Section: Mgmentioning
confidence: 99%
“…The five G-protein-coupled receptors of the melanocortin receptor (MCR) family regulate diverse physiological processes, including pigmentation, corticosteroid production, food intake and energy metabolism, sexual behavior, inflammation, and exocrine gland function (3)(4)(5)(6)(7)(8)(9)(10). Naturally occurring MCR agonists are derived from proopiomelanocortin, a precursor protein that is post-translationally processed in a tissuespecific manner by the proprotein convertases PC1 and PC2 (11).…”
mentioning
confidence: 99%
“…These methods, commonly known as comparative modelling techniques, are suitable under some restrictions, to produce models able to be used as sources for protein engineering (Colombres et al, 2008;Eyzaguirre et al, 2004) and computer-based drug design Lizama et al, 2009;Vasquez et al, 2007), to explore structure-function relationships (Artigas et al, 2008b;Barria et al, 2009;Carvajal et al, 2003;Ehrenfeld et al, 2008;Stange et al, 2008;Strobel et al, 2005;Tischler et al, 2005), and signal-transducing mechanisms (Gonzalez et al, 2008;Inestrosa et al, 2005;Strobel et al, 2004), among a variety of applications.…”
Section: New Challenges For Bioinformatics and Computational Chemistrmentioning
confidence: 99%