Literature DB >> 6252235

Deficient activity of receptor-cyclase coupling protein in platelets of patients with pseudohypoparathyroidism.

Z Farfel, H R Bourne.   

Abstract

Erythrocytes of patients with pseudohypoparathyroidism exhibit decreased activity of a membrane protein that is required for functional coupling of hormone receptors and catalytic adenylate cyclase. We observed decreased activity of this coupling protein in platelet extracts obtained from two pseudohypoparathyroid subjects, as compared with those of four normal control subjects. These findings support the hypothesis that generalized deficiency of this coupling protein is the primary biochemical defect of pseydohypoparathyroidism.

Entities:  

Mesh：

Substances：

Year:  1980        PMID： 6252235     DOI： 10.1210/jcem-51-5-1202

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


  11 in total

1.  Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1.

Authors:  Suzanne Jan de Beur; Changlin Ding; Emily Germain-Lee; Justin Cho; Alexander Maret; Michael A Levine
Journal:  Am J Hum Genet       Date:  2003-07-11       Impact factor: 11.025

2.  Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy.

Authors:  M A Levine; T G Ahn; S F Klupt; K D Kaufman; P M Smallwood; H R Bourne; K A Sullivan; C Van Dop
Journal:  Proc Natl Acad Sci U S A       Date:  1988-01       Impact factor: 11.205

Review 3.  Mutations of signal-transducing G proteins in human disease.

Authors:  P Schnabel; M Böhm
Journal:  J Mol Med (Berl)       Date:  1995-05       Impact factor: 4.599

4.  Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA.

Authors:  Sarah J Rickard; Louise C Wilson
Journal:  Am J Hum Genet       Date:  2003-03-06       Impact factor: 11.025

Review 5.  Endocrine control and disturbances of calcium and phosphate metabolism in children.

Authors:  K Kruse
Journal:  Eur J Pediatr       Date:  1987-07       Impact factor: 3.183

6.  Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

Authors:  L C Wilson; M E Oude Luttikhuis; P T Clayton; W D Fraser; R C Trembath
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

7.  [Pseudohypoparathyroidism and adrenal cortex insufficiency. A case of multiple endocrinopathy due to peripheral hormone resistance].

Authors:  P Ridderskamp; R Schlaghecke
Journal:  Klin Wochenschr       Date:  1990-09-14

8.  Impaired formation of beta-adrenergic receptor-nucleotide regulatory protein complexes in pseudohypoparathyroidism.

Authors:  J A Heinsimer; A O Davies; R W Downs; M A Levine; A M Spiegel; M K Drezner; A De Lean; K A Wreggett; M G Caron; R J Lefkowitz
Journal:  J Clin Invest       Date:  1984-05       Impact factor: 14.808

9.  Deficient adenylate cyclase regulatory protein in renal membranes from a patient with pseudohypoparathyroidism.

Authors:  R W Downs; M A Levine; M K Drezner; W M Burch; A M Spiegel
Journal:  J Clin Invest       Date:  1983-02       Impact factor: 14.808

10.  Platelets of pseudohypoparathyroid patients: evidence that distinct receptor-cyclase coupling proteins mediate stimulation and inhibition of adenylate cyclase.

Authors:  H J Motulsky; R J Hughes; A S Brickman; Z Farfel; H R Bourne; P A Insel
Journal:  Proc Natl Acad Sci U S A       Date:  1982-07       Impact factor: 11.205
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.