title: Aberrant trafficking of transmembrane proteins in human disease.
abstract: 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.
authors: Wellcome Trust Centre for Human Genetics, Headington, OX3 7BN, Oxford, UK.
authors: Christian
authors: C
authors: Cobbold
authors: Anthony P
authors: AP
authors: Monaco
authors: Asipu
authors: A
authors: Sivaprasadarao
authors: Sreenivasan
authors: S
authors: Ponnambalam
mesh_terms: 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
chemical_list: D008565:Membrane Proteins