Komrower lecture: Inborn errors of signal transduction: Mutations in G proteins and G protein-coupled receptors as a cause of disease

Research output: Contribution to journalArticle

39 Scopus citations

Abstract

A vast array of neurotransmitters, polypeptide hormones and other extracellular signalling molecules utilize G protein-coupled pathways for transmembrane signalling. In recent years, mutations in G protein-coupled receptors and in G protein a subunits have been identified as the cause of a variety of human diseases. Both loss and gain of function mutations have been described in disorders such as Albright hereditary osteodystrophy, nephrogenic diabetes insipidus, McCune-Albright syndrome, and familial male precocious puberty. Identification of mutations in G protein-coupled receptors and in G proteins in human diseases has provided unique insights into G protein-coupled signal transduction, has important implications for diagnosis and potentially for treatment, and should stimulate the search for additional defects in G protein-coupled signal transduction in other diseases.

Original languageEnglish (US)
Pages (from-to)113-121
Number of pages9
JournalJournal of Inherited Metabolic Disease
Volume20
Issue number2
DOIs
StatePublished - 1997

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Komrower lecture: Inborn errors of signal transduction: Mutations in G proteins and G protein-coupled receptors as a cause of disease'. Together they form a unique fingerprint.

  • Cite this