Research Topics
Genomes and Genes | Silvia Santamarina-FojoSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Complete genomic sequence of the human ABCA1 gene: analysis of the human and mouse ATP-binding cassette A promoterS Santamarina-Fojo
National Heart, Lung, and Blood Institute, and Clinical Center, Clinical Pathology Department, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 97:7987-92. 2000..These combined findings provide insights into ABCA1-mediated regulation of cellular cholesterol metabolism and will facilitate the identification of new pharmacologic agents for the treatment of atherosclerosis in humans...
Lecithin-cholesterol acyltransferase: role in lipoprotein metabolism, reverse cholesterol transport and atherosclerosisS Santamarina-Fojo
Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institute of Health, Bethesda, Maryland, USA
Curr Opin Lipidol 11:267-75. 2000..Analysis of LCAT transgenic animals has established the importance of evaluating HDL function, as well as HDL plasma levels, to predict atherogenic risk...
Regulation and intracellular trafficking of the ABCA1 transporterS Santamarina-Fojo
Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
J Lipid Res 42:1339-45. 2001..Given the key role that ABCA1 plays in cholesterol homeostasis, it is likely that there are multiple mechanisms for controlling the overall transporter activity of ABCA1...
Hepatic lipase, lipoprotein metabolism, and atherogenesisSilvia Santamarina-Fojo
Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Arterioscler Thromb Vasc Biol 24:1750-4. 2004....
Hepatic ABCG5 and ABCG8 overexpression increases hepatobiliary sterol transport but does not alter aortic atherosclerosis in transgenic miceJustina E Wu
Molecular Disease Branch, NHLBI, National Institutes of Health, Bethesda, Maryland 20892, USA
J Biol Chem 279:22913-25. 2004..These findings demonstrate that overexpression of ABCG5/G8 in the liver profoundly alters hepatic but not intestinal sterol transport, identifying distinct roles for liver and intestinal ABCG5/G8 in modulating sterol metabolism...
The ATP binding cassette transporter A1 (ABCA1) modulates the development of aortic atherosclerosis in C57BL/6 and apoE-knockout miceCharles W Joyce
Molecular Disease Branch, National Heart, Lung, and Blood Institute, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 99:407-12. 2002....
The ligand-binding function of hepatic lipase modulates the development of atherosclerosis in transgenic miceHerminia Gonzalez-Navarro
Molecular Disease Branch, NHLBI, National Institutes of Health, Bethesda, Maryland 20892, USA
J Biol Chem 279:45312-21. 2004....
Hepatic lipase expression in macrophages contributes to atherosclerosis in apoE-deficient and LCAT-transgenic miceZengxuan Nong
Molecular Disease Branch, National Heart, Lung, and Blood Institute, NIH, Bethesda, Maryland 20892, USA
J Clin Invest 112:367-78. 2003....
ABCA1 overexpression in the liver of LDLr-KO mice leads to accumulation of pro-atherogenic lipoproteins and enhanced atherosclerosisCharles W Joyce
Molecular Disease Section, NHLBI, National Institutes of Health, Bethesda, MD 20892, USA
J Biol Chem 281:33053-65. 2006....
The ABCA1 transporter functions on the basolateral surface of hepatocytesEdward B Neufeld
Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, 10 7N115, 10 Center Drive, 20892, Bethesda, MD 20892, USA
Biochem Biophys Res Commun 297:974-9. 2002..These findings suggest an important role for hepatocyte basolateral membrane ABCA1 in the regulation of the levels of intracellular hepatic cholesterol, as well as plasma HDL...
Study of ABCA1 function in transgenic miceCharles Joyce
Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Arterioscler Thromb Vasc Biol 23:965-71. 2003..The present review summarizes the most recent studies and discusses insights provided by these transgenic mouse models...
Role of the hepatic ABCA1 transporter in modulating intrahepatic cholesterol and plasma HDL cholesterol concentrationsFederica Basso
Molecular Disease Branch, NHLBI, National Institutes of Health, Bethesda, MD 20862, USA
J Lipid Res 44:296-302. 2003..These combined results demonstrate that ABCA1 plays a key role in hepatic cholesterol efflux, inducing pathways that modulate cholesterol homeostasis in the liver, and establish the liver as a major source of plasma HDL-C...
The E-box motif in the proximal ABCA1 promoter mediates transcriptional repression of the ABCA1 geneXiao Ping Yang
Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892 1666, USA
J Lipid Res 43:297-306. 2002..These combined studies identify a novel site in the human ABCA1 promoter involved in the regulation of ABCA1 gene expression...
Identification of mouse and human macrophages as a site of synthesis of hepatic lipaseHerminia Gonzalez-Navarro
Molecular Disease Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
J Lipid Res 43:671-5. 2002..These combined findings establish that HL is synthesized de novo by macrophages as well as liver, and raises the possibility that HL may have a direct role in the pathogenesis of atherosclerosis...
Enhanced ABCG1 expression increases atherosclerosis in LDLr-KO mice on a western dietFederica Basso
Lipoprotein Metabolism Section, NHLBI, NIH, 10 Center Drive, 7N102, Bethesda, MD 20892, USA
Biochem Biophys Res Commun 351:398-404. 2006..2-fold) were also increased in ABCG1xLDLr-KO mice. In summary, these findings suggest that enhanced expression of ABCG1 increases atherosclerosis in LDLr-KO mice, despite its role in promoting cholesterol efflux from cells...
The orphan nuclear receptor LRH-1 activates the ABCG5/ABCG8 intergenic promoterLita A Freeman
Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
J Lipid Res 45:1197-206. 2004....
Lipolytic and ligand-binding functions of hepatic lipase protect against atherosclerosis in LDL receptor-deficient miceLita Freeman
Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
J Lipid Res 48:104-13. 2007..These changes, evident even in the presence of apoE, establish an antiatherogenic role of the ligand-binding function of HL in LDLr-deficient mice...
The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier diseaseEdward B Neufeld
Molecular Disease Branch, NHLBI, NHLBI Light Microscopy Core Facility, and Laboratory for Cellular Biology and Biochemistry, NIDDK, National Institutes of Health, Bethesda, Maryland 20892, USA
J Biol Chem 279:15571-8. 2004..The combined results of this study suggest that ABCA1 converts pools of late endocytic lipids that retain NPC1 to pools that can associate with endocytosed apoA-I, and be released from the cell as nascent high density lipoprotein...
Synthetic amphipathic helical peptides promote lipid efflux from cells by an ABCA1-dependent and an ABCA1-independent pathwayAlan T Remaley
National Institutes of Health Molecular Disease Branch, National Heart, Lung, and Blood Institute, Bethesda, MD 20892, USA
J Lipid Res 44:828-36. 2003..In addition, unlike apoA-I, synthetic peptides can also efflux lipid by a passive, energy-independent pathway that does not involve ABCA1 but does depend upon their lipid affinity...
Effects of FXR in foam-cell formation and atherosclerosis developmentGrace L Guo
Laboratory of Metabolism, Bldg 37, Rm 3106B, NCI, NIH, 9000 Rockville Pike, Bethesda, MD 20892, USA
Biochim Biophys Acta 1761:1401-9. 2006..Our study cautions the use of serum lipid levels as a surrogate marker to determine the efficiency of FXR modulators in treating hyperlipidemia...
Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene clusterAlan T Remaley
National Heart, Lung and Blood Institute, National Institutes of Health, Bldg 10 2C 433, 10 Center Drive, Bethesda, MD 20892, USA
Biochem Biophys Res Commun 295:276-82. 2002..In summary, several potential regulatory elements were found for the ABCG5 and ABCG8 genes, and the intergenic region was found to act as a bidirectional promoter...
New insights into the role of the adenosine triphosphate-binding cassette transporters in high-density lipoprotein metabolism and reverse cholesterol transportH Bryan Brewer
Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Am J Cardiol 91:3E-11E. 2003..The ABC transporters currently represent excellent targets for the development of new drugs for the treatment of patients with increased risk of premature cardiovascular disease...
The human ABCG1 gene: identification of LXR response elements that modulate expression in macrophages and liverSteven L Sabol
Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
J Lipid Res 46:2151-67. 2005..These studies clarify the mechanism of transcriptional upregulation of the ABCG1 gene by oxysterols in macrophages and liver, two key tissues where ABCG1 expression may affect cholesterol balance and atherogenesis...
Clinical significance of high-density lipoproteins and the development of atherosclerosis: focus on the role of the adenosine triphosphate-binding cassette protein A1 transporterH Bryan Brewer
Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20894, USA
Am J Cardiol 92:10K-16K. 2003..Ongoing investigation of mechanisms by which HDL acts to reduce the risk of atherosclerosis will provide several new targets for the development of drugs to decrease the risk of atherosclerosis...
Hepatic ABCG5/G8 overexpression reduces apoB-lipoproteins and atherosclerosis when cholesterol absorption is inhibitedFederica Basso
Molecular Disease Section, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
J Lipid Res 48:114-26. 2007..These findings identify distinct roles for liver and intestinal ABCG5/G8 in modulating sterol metabolism and atherosclerosis...
Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase geneJonas Peterson
Division of Metabolism, Endocrinology, and Nutrition, Department of Medicine, Box 356426, University of Washington Medical Center, Seattle, WA 98195 6426, USA
J Lipid Res 43:398-406. 2002..These results stress the importance of conformational evaluation of mutant LPL. Absence of catalytic activity does not necessarily imply that the substituted amino acid plays a specific direct role in catalysis...
