Inactivating mutations of G protein-coupled receptors and diseases: Structure-function insights and therapeutic implications

Tao, Ya-Xiong

doi:10.1016/j.pharmthera.2006.02.008

Cited by 121 publications

(85 citation statements)

References 319 publications

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“…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, 2000Tonacchera et al, , 2004Calebiro 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, 2005Tao, , 2006Farooqi and O´Rahilly, 2006;Hinney et al, 2006;Lubrano-Berthelier et al, 2006;Alharbi et al, 2007;Lin et al, 2007); and CCR5 receptor (Lede...…”

Section: Of-function Diseases or Abnormalities Caused By Particular Gmentioning

confidence: 99%

“…RECEPTOR TRAFFICKING IN HEALTH AND DISEASE the melanocortin-3 and melanocortin-4 receptors, which are associated with regulation of fat deposition and energy homeostasis, respectively, have been detected in patients with morbid obesity (Ho and MacKenzie, 1999;Tao and Segaloff, 2003;Tao et al, 2006). Finally, mutations that lead to intracellular trapping in the ER of the endothelin-B receptor and the chemokine receptor 5 have been detected in patients with Hirschsprung's disease or aganglionic megacolon (Tanaka et al, 1998;Fuchs et al, 2001) and in subjects with resistance to human immunodeficiency virus infection (Rana et al, 1997), respectively.…”

Section: Of-function Diseases or Abnormalities Caused By Particular Gmentioning

confidence: 99%

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G Protein-Coupled Receptor Trafficking in Health and Disease: Lessons Learned to Prepare for Therapeutic Mutant Rescue in Vivo

2007

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Section: Of-function Diseases or Abnormalities Caused By Particular Gmentioning

confidence: 99%

Section: Of-function Diseases or Abnormalities Caused By Particular Gmentioning

confidence: 99%

G Protein-Coupled Receptor Trafficking in Health and Disease: Lessons Learned to Prepare for Therapeutic Mutant Rescue in Vivo

2007

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“…Hundreds of rare variants in GPCRs are directly responsible for monogenic diseases [Cooper et al, 1998;Pearson et al, 1994] and they have been the subject of several thorough reviews [Schöneberg et al, 2004;Tao, 2006]. GPCRs and corresponding diseases that have been incorporated in locus-specific websites are summarized in Table 1.…”

Section: Introductionmentioning

confidence: 99%

GPCR NaVa database: natural variants in human G protein-coupled receptors

et al. 2007

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Communicated by Mauno VihinenThe superfamily of human G protein-coupled receptors (GPCRs) is large and regulates a plethora of important physiological processes by transducing extracellular signals over cell membranes. A diversity of natural variants occurs in these receptors, including rare mutations and common polymorphisms. These variants differ in their impact on DNA, ranging from single nucleotide polymorphisms (SNPs) to copy number variants, and in their impact on protein function. Natural variants furthermore vary in their effects on human phenotypes from neutral to disease-associated. As mutation data are highly dispersed over numerous sources, a single resource for variants would aid investigators of GPCRs. The GPCR NaVa database therefore integrates data on natural variants in human GPCRs from online databases, the scientific literature, and patents. Where available, variants contain information on their location in the DNA (and protein sequence), the involved nucleotides (and amino acids), the average frequency of each allele, reported disease associations, and references to public databases and the scientific literature. The GPCR NaVa database aims to facilitate studies into pharmacogenetics, genotype-phenotype, and structure-function relationships of GPCRs. The GPCR NaVa database is interlinked with the family-specific GPCRDB resource and is accessible as a stand-alone database through a user-friendly website at http://nava.

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“…The mechanism leading to loss-of-function mutation of TSHR includes abnormal binding affinity, abnormal receptor synthesis, accelerated degradation, defective receptor targeting to the cell membrane, and abnormal signal transduction [8]. The TSHR gene has been defined as highly mutable [16].…”

Section: Ta (Tm-5) -Annealing Temperature F -Forward Sequence (5´→ 3mentioning

confidence: 99%

Severe post-partum autoimmune hypothyroidism associated with a novel loss-of-function mutation in intracellular domain of human thyrotropin receptor

Bose¹,

Sharma²,

Hemvani³

et al. 2016

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Several loss-of-function TSHR gene mutations have been reported previously. In the present study, a mutation in exon 10 of the TSHR gene was studied. A 35-year-old mother of two children attended our hospital with symptoms of hypothyroidism after her second delivery. She had elevated levels of thyroid hormones including both the thyroid antibodies and those treated with L-thyroxine. In the present study, exon 10 of the TSHR gene of the patient was studied. Sequencing of exon 10 revealed a G to T transversion, resulting in a loss of function mutation changing glutamic acid 757 to stop codon, (E757Stop) in the intracellular domain of TSH receptor and also C to T transition, leading to no change in amino acid sequence (glycine to glycine at 753 amino acid position). We report a novel sporadic loss of function mutation in TSHR protein at codon 757 (E757Stop). StreszczeniePublikacje na temat mutacji utraty funkcji genu TSHR pojawiały się już wcześniej. W prezentowanej pracy zbadano mutację w pozycji eksonu 10 genu TSHR. Do szpitala zgłosiła się 35-letnia matka dwojga dzieci z objawami niedoczynności tarczycy po drugim porodzie. Miała podwyższony poziom hormonów tarczycy, w tym zarówno przeciwciał przeciwtarczycowych, jak i L-tyroksyny. W pracy przestudiowano ekson 10 genu TSHR pacjentki. Przy sekwencjonowaniu eksonu 10 odkryto transwersję G do T, czego skutkiem jest mutacja utraty funkcji zmieniająca kwas glutaminowy 757 na kodon stop (E757Stop) w wewnątrzkomórkowej domenie receptora TSH, a także przejście C do T, nieprowadzące do żadnej zmiany w sekwencji aminokwasu glutaminowego (glycine to glycine w pozycji aminokwasu 753). Przedstawiamy raport na temat nowej sporadycznej mutacji utraty funkcji w białku TSHR w pozycji kodonu 757 (E757Stop).

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Inactivating mutations of G protein-coupled receptors and diseases: Structure-function insights and therapeutic implications

Cited by 121 publications

References 319 publications

G Protein-Coupled Receptor Trafficking in Health and Disease: Lessons Learned to Prepare for Therapeutic Mutant Rescue in Vivo

G Protein-Coupled Receptor Trafficking in Health and Disease: Lessons Learned to Prepare for Therapeutic Mutant Rescue in Vivo

GPCR NaVa database: natural variants in human G protein-coupled receptors

Severe post-partum autoimmune hypothyroidism associated with a novel loss-of-function mutation in intracellular domain of human thyrotropin receptor

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