TY - JOUR
T1 - Komrower lecture
T2 - Inborn errors of signal transduction: Mutations in G proteins and G protein-coupled receptors as a cause of disease
AU - Spiegel, A. M.
PY - 1997
Y1 - 1997
N2 - 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.
AB - 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.
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U2 - 10.1023/A:1005393501786
DO - 10.1023/A:1005393501786
M3 - Article
C2 - 9211183
AN - SCOPUS:0031157691
SN - 0141-8955
VL - 20
SP - 113
EP - 121
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
IS - 2
ER -