Genetic Etiology of Isolated Low HDL Syndrome: Incidence and Heterogeneity of Efflux Defects
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M. Freeman | R. S. Kiss | Y. Marcel | R. McPherson | Nihan Kavaslar | R. Milne | K. Okuhira | S. Walter | Keiichiro Okuhira
[1] R. S. Kiss,et al. Cathepsin D, a Lysosomal Protease, Regulates ABCA1-mediated Lipid Efflux* , 2006, Journal of Biological Chemistry.
[2] David W. Williamson,et al. Common polymorphisms of ATP binding cassette transporter A1, including a functional promoter polymorphism, associated with plasma high density lipoprotein cholesterol levels in Turks. , 2005, Atherosclerosis.
[3] M. Freeman,et al. ATP-binding Cassette Transporter A1 Contains a Novel C-terminal VFVNFA Motif That Is Required for Its Cholesterol Efflux and ApoA-I Binding Activities* , 2004, Journal of Biological Chemistry.
[4] Jonathan C. Cohen,et al. Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol , 2004, Science.
[5] J. Marsh. Lipoprotein metabolism in obesity and diabetes: insights from stable isotope kinetic studies in humans. , 2003, Nutrition reviews.
[6] M. Taskinen,et al. Determinants of low HDL levels in familial combined hyperlipidemia Published, JLR Papers in Press, June 1, 2003. DOI 10.1194/jlr.M300069-JLR200 , 2003, Journal of Lipid Research.
[7] D. Rader,et al. Expression of Human Hepatic Lipase in the Rabbit Model Preferentially Enhances the Clearance of Triglyceride‐Enriched Versus Native High‐Density Lipoprotein Apolipoprotein A‐I , 2003, Circulation.
[8] J. Genest,et al. Cellular Phospholipid and Cholesterol Efflux in High-Density Lipoprotein Deficiency , 2003, Circulation.
[9] K. Zeller,et al. ABCA1Alabama: a novel variant associated with HDL deficiency and premature coronary artery disease , 2002 .
[10] D. Gómez-Coronado,et al. Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia. , 2002, Atherosclerosis.
[11] M. Hayden,et al. Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency. , 2002, Biochemical and biophysical research communications.
[12] D. Sviridov,et al. Recombinant proapoA-I(Lys107del) shows impaired lipid binding associated with reduced binding to plasma high density lipoprotein. , 2001, Atherosclerosis.
[13] A. Sekine,et al. High-density single-nucleotide polymorphism (SNP) map of the 150-kb region corresponding to the human ATP-binding cassette transporter A1 (ABCA1) gene , 2001, Journal of Human Genetics.
[14] R. Hegele,et al. Lecithin:cholesterol acyl transferase G30S: association with atherosclerosis, hypoalphalipoproteinemia and reduced in vivo enzyme activity. , 2001, Clinical biochemistry.
[15] J. Brady,et al. Analysis of Glomerulosclerosis and Atherosclerosis in Lecithin Cholesterol Acyltransferase-deficient Mice* , 2001, The Journal of Biological Chemistry.
[16] T. Hudson,et al. Common Genetic Variation in ABCA1 Is Associated With Altered Lipoprotein Levels and a Modified Risk for Coronary Artery Disease , 2001, Circulation.
[17] M. Hayden,et al. Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. , 2000, The Journal of clinical investigation.
[18] J. Genest,et al. Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations. , 2000, Atherosclerosis.
[19] S. Harvey,et al. Detailed molecular model of apolipoprotein A-I on the surface of high-density lipoproteins and its functional implications. , 2000, Trends in cardiovascular medicine.
[20] L. M. Thurston,et al. Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds. , 2000, Journal of lipid research.
[21] A. Tall,et al. Phospholipid transfer protein gene knock-out mice have low high density lipoprotein levels, due to hypercatabolism, and accumulate apoA-IV-rich lamellar lipoproteins. , 2000, Journal of lipid research.
[22] R. Asmis,et al. Large variations in human foam cell formation in individuals: a fully autologous in vitro assay based on the quantitative analysis of cellular neutral lipids. , 2000, Atherosclerosis.
[23] P. Denéfle,et al. Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[24] C. Sensen,et al. Mutations in the ABC 1 gene in familial HDL deficiency with defective cholesterol efflux , 1999, The Lancet.
[25] T. Langmann,et al. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease , 1999, Nature Genetics.
[26] C. Sensen,et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency , 1999, Nature Genetics.
[27] J. Piette,et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1 , 1999, Nature Genetics.
[28] M. Jauhiainen,et al. Structure and phospholipid transfer activity of human PLTP: analysis by molecular modeling and site-directed mutagenesis. , 1999, Journal of lipid research.
[29] J. Little,et al. Plasma lipids and lipoprotein reference values, and the prevalence of dyslipoproteinemia in Canadian adults. Canadian Heart Health Surveys Research Group. , 1999, Canadian Journal of Cardiology.
[30] A. Tall,et al. Targeted mutation of plasma phospholipid transfer protein gene markedly reduces high-density lipoprotein levels. , 1999, The Journal of clinical investigation.
[31] A. von Eckardstein,et al. Multiple dysfunctions of two apolipoprotein A-I variants, apoA-I(R160L)Oslo and apoA-I(P165R), that are associated with hypoalphalipoproteinemia in heterozygous carriers. , 1999, Journal of lipid research.
[32] T. Arinami,et al. Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey. , 1999, Human molecular genetics.
[33] G. Luc,et al. Severe atherosclerosis and hypoalphalipoproteinemia in the staggerer mouse, a mutant of the nuclear receptor RORalpha. , 1998, Circulation.
[34] M. Jauhiainen,et al. Biosynthesis and secretion of human plasma phospholipid transfer protein. , 1998, Journal of lipid research.
[35] M. Tremblay,et al. Familial HDL deficiency characterized by hypercatabolism of mature apoA-I but not proapoA-I. , 1998, Arteriosclerosis, thrombosis, and vascular biology.
[36] J. Virtamo,et al. Molecular Genetic Study of Finns With Hypoalphalipoproteinemia and Hyperalphalipoproteinemia A Novel Gly230Arg Mutation (LCATFin) of Lecithin:Cholesterol Acyltransferase (LCAT) Accounts for 5% of Cases With Very Low Serum HDL Cholesterol Levels , 1998 .
[37] M. Freeman,et al. Decreased cholesterol efflux from fibroblasts of a patient without Tangier disease, but with markedly reduced high density lipoprotein cholesterol levels. , 1998, The Journal of clinical endocrinology and metabolism.
[38] A. von Eckardstein,et al. A natural apolipoprotein A-I variant, apoA-I (L141R)Pisa, interferes with the formation of alpha-high density lipoproteins (HDL) but not with the formation of pre beta 1-HDL and influences efflux of cholesterol into plasma. , 1997, Journal of lipid research.
[39] G. Luc,et al. Fish-eye disease: structural and in vivo metabolic abnormalities of high-density lipoproteins. , 1997, Metabolism: clinical and experimental.
[40] G. Assmann,et al. A unique genetic and biochemical presentation of fish-eye disease. , 1995, The Journal of clinical investigation.
[41] T. Yanase,et al. Two novel point mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in LCAT deficiency: LCAT (G873 deletion) and LCAT (Gly344-->Ser). , 1995, Journal of lipid research.
[42] K. Zeller,et al. ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. , 2002, Atherosclerosis.
[43] J. Genest,et al. Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency. , 1999, Arteriosclerosis, thrombosis, and vascular biology.
[44] 護山 健悟. Two novel point mutations in the lecithin : Cholesterol acyltransferase (LCAT) gene resulting in LCAT deficiency : LCAT (G[873] deletion) and LCAT (Gly[344]→Ser) , 1995 .
[45] C. Eng,et al. Genetic Variation in PLTP Modulates Lipoprotein Profiles in Hyperalphalipoproteinemia , 2022 .