Aberrant trafficking of transmembrane proteins in human disease.
Transmembrane domain (TMD) proteins comprise a major group of proteins that perform a wide range of functions and act to translate extracellular signals to intracellular responses. They include G-protein coupled receptors (GPCRs), growth factor receptors, ion channels, transporters and metabolic enzymes. In this review, we focus on the current understanding of trafficking of mutant membrane proteins in human disease and speculate on therapeutic strategies.
Cobbold
Christian
C
Wellcome Trust Centre for Human Genetics, Headington, OX3 7BN, Oxford, UK.
Monaco
Anthony P
AP
Sivaprasadarao
Asipu
A
Ponnambalam
Sreenivasan
S
D001692:Biological Transport; D002462:Cell Membrane / Q000737:chemistry; D003550:Cystic Fibrosis / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D003919:Diabetes Insipidus / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D006801:Humans; D008565:Membrane Proteins / Q000378:metabolism*; D021381:Protein Transport; D012174:Retinitis Pigmentosa / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D015398:Signal Transduction
D008565:Membrane Proteins