Literature DB >> 8903937

Mutations and diseases of G protein coupled receptors.

M Birnbaumer1.   

Abstract

Currently known disease-causing mutations in G protein coupled receptors are reviewed and discussed in conjunction with other naturally occurring receptor mutations. Special emphasis is made on opsin, vasopressin and MSH receptor mutations and what they tell are beginning to tell us about the inner workings of this superfamily of signalling molecules.

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Year:  1995        PMID: 8903937     DOI: 10.3109/10799899509045213

Source DB:  PubMed          Journal:  J Recept Signal Transduct Res        ISSN: 1079-9893            Impact factor:   2.092


  16 in total

Review 1.  Genetic variations in human G protein-coupled receptors: implications for drug therapy.

Authors:  W Sadee; E Hoeg; J Lucas; D Wang
Journal:  AAPS PharmSci       Date:  2001

Review 2.  Genetics of vasopressin receptors.

Authors:  Marc Thibonnier
Journal:  Curr Hypertens Rep       Date:  2004-02       Impact factor: 5.369

3.  Conservation of molecular interactions stabilizing bovine and mouse rhodopsin.

Authors:  Shiho Kawamura; Alejandro T Colozo; Daniel J Müller; Paul S-H Park
Journal:  Biochemistry       Date:  2010-11-11       Impact factor: 3.162

Review 4.  Regulation of G protein function: implications for heart disease.

Authors:  J T Meij
Journal:  Mol Cell Biochem       Date:  1996 Apr 12-26       Impact factor: 3.396

5.  The metabolic syndrome is related to beta 3-adrenoceptor sensitivity in visceral adipose tissue.

Authors:  J Hoffstedt; H Wahrenberg; A Thörne; F Lönnqvist
Journal:  Diabetologia       Date:  1996-07       Impact factor: 10.122

6.  Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.

Authors:  S H Pearce; M Bai; S J Quinn; O Kifor; E M Brown; R V Thakker
Journal:  J Clin Invest       Date:  1996-10-15       Impact factor: 14.808

7.  The effect of aspartate-lysine-isoleucine and aspartate-arginine-tyrosine mutations on the expression and activity of vasopressin V2 receptor gene.

Authors:  Hossein Najafzadeh; Leila Safaeian; Hamid Mirmohammad Sadeghi; Mohammad Rabbani; Abbas Jafarian
Journal:  Iran Biomed J       Date:  2010 Jan-Apr

8.  Constitutively active mutants of the alpha 1B-adrenergic receptor: role of highly conserved polar amino acids in receptor activation.

Authors:  A Scheer; F Fanelli; T Costa; P G De Benedetti; S Cotecchia
Journal:  EMBO J       Date:  1996-07-15       Impact factor: 11.598

9.  Agonist-independent interactions between beta-arrestins and mutant vasopressin type II receptors associated with nephrogenic syndrome of inappropriate antidiuresis.

Authors:  Martina Kocan; Heng B See; Natália G Sampaio; Karin A Eidne; Brian J Feldman; Kevin D G Pfleger
Journal:  Mol Endocrinol       Date:  2009-01-29

10.  Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.

Authors:  A V Cideciyan; D C Hood; Y Huang; E Banin; Z Y Li; E M Stone; A H Milam; S G Jacobson
Journal:  Proc Natl Acad Sci U S A       Date:  1998-06-09       Impact factor: 11.205

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