Inborn errors of signal transduction: mutations in G proteins and G protein-coupled receptors as a cause of disease.

Abstract excerpt

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 alpha 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...

Topics

• Animals
• GTP-Binding Proteins
• Humans
• Metabolism, Inborn Errors
• Mutation
• Receptors, Cell Surface
• Signal Transduction