title: Intracellular cholesterol transport proteins: roles in health and disease.
abstract: Effective cholesterol homoeostasis is essential in maintaining cellular function, and this is achieved by a network of lipid-responsive nuclear transcription factors, and enzymes, receptors and transporters subject to post-transcriptional and post-translational regulation, whereas loss of these elegant, tightly regulated homoeostatic responses is integral to disease pathologies. Recent data suggest that sterol-binding sensors, exchangers and transporters contribute to regulation of cellular cholesterol homoeostasis and that genetic overexpression or deletion, or mutations, in a number of these proteins are linked with diseases, including atherosclerosis, dyslipidaemia, diabetes, congenital lipoid adrenal hyperplasia, cancer, autosomal dominant hearing loss and male infertility. This review focuses on current evidence exploring the function of members of the 'START' (steroidogenic acute regulatory protein-related lipid transfer) and 'ORP' (oxysterol-binding protein-related proteins) families of sterol-binding proteins in sterol homoeostasis in eukaryotic cells, and the evidence that they represent valid therapeutic targets to alleviate human disease.
authors.affiliation: Department of Life Sciences, School of Health and Life Sciences, Glasgow Caledonian University, Cowcaddens Road, Glasgow G4 0BA, U.K.
authors.forename: Ugo
authors.initials: U
authors.lastname: Soffientini
authors.affiliation: Department of Life Sciences, School of Health and Life Sciences, Glasgow Caledonian University, Cowcaddens Road, Glasgow G4 0BA, U.K. Ann.Graham@gcu.ac.uk.
authors.forename: Annette
authors.initials: A
authors.lastname: Graham
mesh_terms: D000818:Animals; D001692:Biological Transport; D002784:Cholesterol / Q000378:metabolism*; D004194:Disease / Q000235:genetics; D006801:Humans; D050356:Lipid Metabolism; D010750:Phosphoproteins / Q000235:genetics / Q000378:metabolism; D011987:Receptors, Steroid / Q000235:genetics / Q000378:metabolism; D000098825:Oxysterol Binding Proteins; D000098682:Steroidogenic Acute Regulatory Protein
chemical_list: D010750:Phosphoproteins; D011987:Receptors, Steroid; D000098825:Oxysterol Binding Proteins; D000098682:Steroidogenic Acute Regulatory Protein; D002784:Cholesterol
keywords: cholesterol homoeostasis; non-vesicular lipid trafficking; oxysterol-binding protein-related proteins; steroidogenic acute regulatory protein (StAR)-related lipid transfer domain; sterol-responsive transcription factors