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.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Biological Transport*
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Cell Membrane / chemistry
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Cystic Fibrosis / metabolism
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Cystic Fibrosis / pathology
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Cystic Fibrosis / therapy
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Diabetes Insipidus / metabolism
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Diabetes Insipidus / pathology
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Diabetes Insipidus / therapy
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Humans
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Membrane Proteins / metabolism*
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Protein Transport*
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Retinitis Pigmentosa / metabolism
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Retinitis Pigmentosa / pathology
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Retinitis Pigmentosa / therapy
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Signal Transduction