Pseudohypoparathyroidism: Mutation affecting adenylate cyclase

Z. Farfel, H. R. Bourne

Research output: Contribution to journalReview articlepeer-review

11 Scopus citations

Abstract

Pseudohypoparathyroidism, type I (PHP-I), is a rare hereditary disorder characterized by resistance to parathyroid (PTH) and to other hormones that work by stimulating adenylate cyclase. Recent elucidation of the membrane proteins that comprise hormone-sensitive adenylate cyclase made it possible to define the molecular defect that causes resistance to hormones in most patients with PHP-I. This review will summarize the biochemical and clinical evidence that PHP-I results from deficient activity of the guanine nucleotide-binding protein that couples hormone receptors and the catalytic unit of adenylate cyclase.

Original languageEnglish
Pages (from-to)227-236
Number of pages10
JournalMineral and Electrolyte Metabolism
Volume8
Issue number3-4
StatePublished - 1982
Externally publishedYes

Funding

FundersFunder number
National Institute of General Medical SciencesR01GM027800

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