Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene.

[1]  M. Taskinen,et al.  A compound heterozygote for hepatic lipase gene mutations Leu334-->Phe and Thr383-->Met: correlation between hepatic lipase activity and phenotypic expression. , 1996, Journal of lipid research.

[2]  M. Taskinen,et al.  Heterozygosity for Asn291-->Ser mutation in the lipoprotein lipase gene in two Finnish pedigrees: effect of hyperinsulinemia on the expression of hypertriglyceridemia. , 1996, Journal of lipid research.

[3]  D. Berryman,et al.  Genetics and molecular biology of hepatic lipase , 1996, Current opinion in lipidology.

[4]  H. Brewer,et al.  Hepatic lipase gene therapy in hepatic lipase-deficient mice. Adenovirus-mediated replacement of a lipolytic enzyme to the vascular endothelium. , 1996, The Journal of clinical investigation.

[5]  S. Humphries,et al.  Interaction of the lipoprotein lipase ASN291 -> SER mutation with body mass index in determining elevated plasma lipid concentrations in hyperlipidaemic subjects, myocardial infarction survivors and healthy controls , 1995 .

[6]  D. Applebaum-Bowden,et al.  Lipases and lecithin: cholesterol acyltransferase in the control of lipoprotein metabolism , 1995, Current opinion in lipidology.

[7]  M. Taskinen,et al.  High density lipoprotein subfractions in non-insulin-dependent diabetes mellitus and coronary artery disease. , 1995, Journal of lipid research.

[8]  G. Homanics,et al.  Mild Dyslipidemia in Mice following Targeted Inactivation of the Hepatic Lipase Gene (*) , 1995, The Journal of Biological Chemistry.

[9]  P. Barter,et al.  Role of hepatic lipase and cholesteryl ester transfer protein in HDL metabolism , 1994 .

[10]  J. Taylor,et al.  Overexpression of hepatic lipase in transgenic rabbits leads to a marked reduction of plasma high density lipoproteins and intermediate density lipoproteins. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[11]  J. Taylor,et al.  Enhanced binding and uptake of remnant lipoproteins by hepatic lipase-secreting hepatoma cells in culture. , 1994, The Journal of biological chemistry.

[12]  B. Perret,et al.  Hepatic lipase induces the formation of pre-beta 1 high density lipoprotein (HDL) from triacylglycerol-rich HDL2. A study comparing liver perfusion to in vitro incubation with lipases. , 1994, The Journal of biological chemistry.

[13]  B. Perret,et al.  Hepatic lipase promotes the uptake of HDL esterified cholesterol by the perfused rat liver: a study using reconstituted HDL particles of defined phospholipid composition. , 1994, Journal of lipid research.

[14]  M H Doolittle,et al.  Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations. , 1994, Arteriosclerosis and thrombosis : a journal of vascular biology.

[15]  G. Assmann,et al.  The rapid molecular diagnosis of genetic cardiovascular risk factors , 1993 .

[16]  R. Hegele,et al.  Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics. , 1993, Arteriosclerosis and thrombosis : a journal of vascular biology.

[17]  A. von Eckardstein,et al.  Cell-derived unesterified cholesterol cycles between different HDLs and LDL for its effective esterification in plasma. , 1993, Arteriosclerosis and thrombosis : a journal of vascular biology.

[18]  A. Jalanko,et al.  Expression of recombinant soluble and membrane-bound catechol O-methyltransferase in eukaryotic cells and identification of the respective enzymes in rat brain. , 1992, European journal of biochemistry.

[19]  T. Forte,et al.  Cholesteryl ester transfer protein and hepatic lipase activity promote shedding of apo A-I from HDL and subsequent formation of discoidal HDL. , 1992, Biochimica et biophysica acta.

[20]  M. Taskinen,et al.  A novel polymorphism of apolipoprotein A-IV is the result of an asparagine to serine substitution at residue 127. , 1992, Biochimica et biophysica acta.

[21]  R. Hegele,et al.  A hepatic lipase gene mutation associated with heritable lipolytic deficiency. , 1991, The Journal of clinical endocrinology and metabolism.

[22]  P. Barter,et al.  Hepatic lipase promotes a loss of apolipoprotein A-I from triglyceride-enriched human high density lipoproteins during incubation in vitro. , 1991, Arteriosclerosis and thrombosis : a journal of vascular biology.

[23]  K Kontula,et al.  A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E. , 1990, Genomics.

[24]  M. Emi,et al.  Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation. , 1990, The Journal of clinical investigation.

[25]  J. L. Casanova,et al.  Optimal conditions for directly sequencing double-stranded PCR products with sequenase , 1990, Nucleic Acids Res..

[26]  T. Olivecrona,et al.  Lipoprotein lipase and hepatic lipase , 1990 .

[27]  J. Hokanson,et al.  Coexistence of abnormalities of hepatic lipase and lipoprotein lipase in a large family. , 1990, American journal of human genetics.

[28]  H. Jansen,et al.  Inhibition of hepatic lipase activity impairs chylomicron remnant-removal in rats. , 1990, Biochimica et biophysica acta.

[29]  L. Chan,et al.  Structure of the human hepatic triglyceride lipase gene. , 1989, Biochemistry.

[30]  T. Sekiya,et al.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. , 1989, Genomics.

[31]  S. Griglio,et al.  Chylomicron-remnant uptake by freshly isolated hepatocytes. Effect of heparin and of hepatic triacylglycerol lipase. , 1989, The Biochemical journal.

[32]  F. Karpe,et al.  Lipoprotein metabolism in hepatic lipase deficiency: studies on the turnover of apolipoprotein B and on the effect of hepatic lipase on high density lipoprotein. , 1988, Journal of lipid research.

[33]  C. Fielding,et al.  Early incorporation of cell-derived cholesterol into pre-beta-migrating high-density lipoprotein. , 1988, Biochemistry.

[34]  J. Northrop,et al.  Lipofection: a highly efficient, lipid-mediated DNA-transfection procedure. , 1987, Proceedings of the National Academy of Sciences of the United States of America.

[35]  M. Taskinen,et al.  7 Enzymes involved in triglyceride hydrolysis , 1987 .

[36]  E. Nikkilä,et al.  Regulation of hepatic lipase and serum lipoproteins by sex steroids. , 1987, American heart journal.

[37]  A. Bensadoun,et al.  Enrichment of apolipoprotein B-48 in the LDL density class following in vivo inhibition of hepatic lipase. , 1986, Biochimica et Biophysica Acta.

[38]  C. Ehnholm,et al.  Apolipoprotein E polymorphism in the Finnish population: gene frequencies and relation to lipoprotein concentrations. , 1986, Journal of lipid research.

[39]  F. Eckstein,et al.  The rapid generation of oligonucleotide-directed mutations at high frequency using phosphorothioate-modified DNA. , 1985, Nucleic acids research.

[40]  M. Phillips,et al.  Mechanism of the hepatic lipase induced accumulation of high-density lipoprotein cholesterol by cells in culture. , 1985, Biochemistry.

[41]  I. Goldberg,et al.  Lipoprotein metabolism during acute inhibition of hepatic triglyceride lipase in the cynomolgus monkey. , 1982, The Journal of clinical investigation.

[42]  J. Little,et al.  Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase. , 1982, Atherosclerosis.

[43]  D. Ballantyne,et al.  High density and low density lipoprotein subfractions in survivors of myocardial infarction and in control subjects. , 1982, Metabolism: clinical and experimental.

[44]  M. Caruthers,et al.  Deoxynucleoside phosphoramidites—A new class of key intermediates for deoxypolynucleotide synthesis , 1981 .

[45]  H. Itakura,et al.  Accumulation of intermediate density lipoprotein in plasma after intravenous administration of hepatic triglyceride lipase antibody in rats. , 1981, Atherosclerosis.

[46]  F. Sanger,et al.  Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing. , 1980, Journal of molecular biology.

[47]  M. Kashyap,et al.  A rapid and simple method for measurement of total protein in very low density lipoproteins by the Lowry assay. , 1980, Journal of lipid research.

[48]  A. van Tol,et al.  On the metabolic function of heparin-releasable liver lipase. , 1980, Biochemical and biophysical research communications.

[49]  N. Miller,et al.  THE TROMSØHEART-STUDY HIGH-DENSITY LIPOPROTEIN AND CORONARY HEART-DISEASE: A PROSPECTIVE CASE-CONTROL STUDY , 1977, The Lancet.

[50]  M C Hjortland,et al.  High density lipoprotein as a protective factor against coronary heart disease. The Framingham Study. , 1977, The American journal of medicine.

[51]  J. Huttunen,et al.  Post-heparin plasma lipoprotein lipase and hepatic lipase in normal subjects and in patients with hypertriglyceridaemia: correlations to sex, age and various parameters of triglyceride metabolism. , 1976, Clinical science and molecular medicine.

[52]  C. Ehnholm,et al.  Purification from human plasma of a heparin-released lipase with activity against triglyceride and phospholipids. , 1975, The Journal of biological chemistry.

[53]  G. Miller,et al.  PLASMA-HIGH-DENSITY-LIPOPROTEIN CONCENTRATION AND DEVELOPMENT OF ISCHÆMIC HEART-DISEASE , 1975, The Lancet.

[54]  R. Havel,et al.  The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. , 1955, The Journal of clinical investigation.

[55]  R. Hegele,et al.  Hepatic lipase deficiency. , 1998, Critical reviews in clinical laboratory sciences.

[56]  D. Betteridge.  Lipids: Current perspectives , 1996 .

[57]  A. Bensadoun.  Sandwich immunoassay for measurement of human hepatic lipase. , 1996, Methods in enzymology.

[58]  J. Little,et al.  Plasma lipoproteins in familial hepatic lipase deficiency. , 1990, Arteriosclerosis.

[59]  A. Syvänen,et al.  Biotinylation of Oligonucleotides Using a Water Soluble Biotin Ester , 1990 .

[60]  K. Mullis,et al.  Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. , 1987, Methods in enzymology.

[61]  C. Ehnholm,et al.  Preparation, characterization, and measurement of hepatic lipase. , 1986, Methods in enzymology.

[62]  P. Kinnunen,et al.  Lipoprotein lipase and hepatic endothelial lipase: their roles in plasma lipoprotein metabolism , 1983 .

[63]  P. Röschlau,et al.  Enzymatische Bestimmung des Gesamt-Cholesterins im Serum , 1974 .

[64]  A. Wahlefeld.  Triglycerides Determination after Enzymatic Hydrolysis , 1974 .