[HTML][HTML] How genetic errors in GPCRs affect their function: possible therapeutic strategies

H Stoy, VV Gurevich - Genes & diseases, 2015 - Elsevier
Activating and inactivating mutations in numerous human G protein-coupled receptors
(GPCRs) are associated with a wide range of disease phenotypes. Here we use several …

Mutant G-protein-coupled receptors as a cause of human diseases

T Schöneberg, A Schulz, H Biebermann… - Pharmacology & …, 2004 - Elsevier
G-protein-coupled receptors (GPCR) are involved in directly and indirectly controlling an
extraordinary variety of physiological functions. Their key roles in cellular communication …

Mutations in G protein–coupled receptors: mechanisms, pathophysiology and potential therapeutic approaches

T Schöneberg, I Liebscher - Pharmacological reviews, 2021 - ASPET
There are approximately 800 annotated G protein–coupled receptor (GPCR) genes, making
these membrane receptors members of the most abundant gene family in the human …

G protein-coupled receptors disrupted in human genetic disease

MD Thompson, ME Percy, WMI Burnham… - … in Drug Discovery and …, 2008 - Springer
Genetic variation in G protein-coupled receptors (GPCRs) results in the disruption of GPCR
function in a wide variety of human genetic diseases. In vitro strategies have been used to …

Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics

YX Tao - Pharmacology & therapeutics, 2008 - Elsevier
The existence of constitutive activity for G protein-coupled receptors (GPCRs) was first
described in 1980s. In 1991, the first naturally occurring constitutively active mutations in …

[HTML][HTML] Impact of GPCRs in clinical medicine: monogenic diseases, genetic variants and drug targets

PA Insel, CM Tang, I Hahntow, MC Michel - Biochimica et Biophysica Acta …, 2007 - Elsevier
By virtue of their large number, widespread distribution and important roles in cell
physiology and biochemistry, G-protein-coupled receptors (GPCR) play multiple important …

Molecular Manipulation of G Protein coupled Receptors A New Avenue into Drug Discovery

M Sautel, G Milligan - Current medicinal chemistry, 2000 - ingentaconnect.com
During the past 10 years or so, associated with the introduction of molecular biology
techniques to G protein coupled receptor (GPCR) research, outstanding progress has been …

The structural basis of G-protein-coupled receptor function and dysfunction in human diseases

T Schöneberg, A Schulz, T Gudermann - Reviews of physiology …, 2007 - Springer
Among the different families of transmembrane receptors, G-proteincoupled receptors
(GPCR) form the largest superfamily being present in yeast, plants, protozoa and metazoa …

Pharmacogenomic and structural analysis of constitutive G protein–coupled receptor activity

MJ Smit, HF Vischer, RA Bakker… - Annu. Rev …, 2007 - annualreviews.org
G protein–coupled receptors (GPCRs) respond to a chemically diverse plethora of signal
transduction molecules. The notion that GPCRs also signal without an external chemical …

G protein-coupled receptor structure and function: the impact of disease-causing mutations

A Shenker - Baillière's clinical endocrinology and metabolism, 1995 - Elsevier
Just as the discovery of 'inborn errors of metabolism'in humans contributed to our basic
understanding of normal enzymatic pathways, so can genetic defects in signal transduction …