Literature DB >> 6309005

A convenient method for measuring receptor-cyclase coupling activity in whole blood: application to Duchenne muscular dystrophy.

H R Bourne, F Steinberg, M S Golbus, Z Farfel.   

Abstract

Activity of the guanine nucleotide-binding regulatory (N protein) component of adenylate cyclase can be measured in extracts of whole blood, using a modification of an assay previously applied to erythrocyte membranes. N protein activities in the blood of three patients with Duchenne muscular dystrophy and eight heterozygous carriers of the disease did not differ significantly from activities measured in blood of seven normal subjects. In contrast, the modified assay showed a 50% deficiency of N protein activity in blood of four patients with pseudohypoparathyroidism, type I, in whom erythrocyte studies had previously demonstrated a comparable degree of N deficiency.

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Year:  1983        PMID: 6309005     DOI: 10.1002/ajmg.1320150312

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  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

2.  Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.

Authors:  L C Wilson; K Leverton; M E Oude Luttikhuis; C A Oley; J Flint; J Wolstenholme; D P Duckett; M A Barrow; J V Leonard; A P Read
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

  2 in total

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