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

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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
Externally publishedYes

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G-Protein-Coupled Receptors
GTP-Binding Proteins
Signal Transduction
Mutation
Nephrogenic Diabetes Insipidus
Polyostotic Fibrous Dysplasia
Peptide Hormones
Protein Subunits
Neurotransmitter Agents

ASJC Scopus subject areas

  • Endocrinology
  • Genetics
  • Genetics(clinical)

Cite this

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