TABLE 1

Loss-of-function diseases or abnormalities caused by particular GPCR misfolding The approximate number of total mutations reported, number of sites involved in the mutations and number of traffic-defective mutant receptors, and pharmacological chaperones used in in vitro studies are indicated. Information condensed as follows: rhodopsin (Stojanovic and Hwa, 2002; Mendes et al., 2005; Tao, 2006); V2R (Bernier et al., 2004a,b; Fujiwara and Bichet, 2005; Bichet, 2006; Boson et al., 2006; Robben and Deen, 2007; Robben et al., 2006); GnRHR (Beranova et al., 2001; Janovick et al., 2003a; Ulloa-Aguirre et al., 2004a,b); CaR (Brown, 2007; Huang and Breitwieser, 2007); LHR (Gromoll et al., 2002; Martens et al., 2002; Huhtaniemi and Themmen, 2005; Piersma et al., 2007); FSHR (Rannikko et al., 2002; Meduri et al., 2003; Huhtaniemi and Themmen, 2005); TSHR (Biebermann et al., 1997; Costagliola et al., 1999; Tonacchera et al., 2000, 2004; Calebiro et al., 2005; Davies et al., 2005); E-BR (Tanaka et al., 1998; Fuchs et al., 2001; Chen et al., 2006; Tao, 2006); MC1R–4R (Beaumont et al., 2005; Clark et al., 2005; Govaerts et al., 2005; Tao, 2005, 2006; Farooqi and O'Rahilly, 2006; Hinney et al., 2006; Lubrano-Berthelier et al., 2006; Alharbi et al., 2007; Lin et al., 2007); and CCR5 receptor (Lederman et al., 2006; Tao, 2006; Reiche et al., 2007).