Search Results - "Sierts, Jeroen A."
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Genetic Variant of the Scavenger Receptor BI in Humans
Published in The New England journal of medicine (13-01-2011)“…In a family with high HDL, a genetic mutation was identified. In addition to higher HDL levels, carriers had reduced cholesterol efflux from macrophages,…”
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Heterozygosity for a Loss-of-Function Mutation in GALNT2 Improves Plasma Triglyceride Clearance in Man
Published in Cell metabolism (07-12-2011)“…Genome-wide association studies have identified GALNT2 as a candidate gene in lipid metabolism, but it is not known how the encoded enzyme ppGalNAc-T2, which…”
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AAV gene therapy as a means to increase apolipoprotein (Apo) A-I and high-density lipoprotein-cholesterol levels: correction of murine ApoA-I deficiency
Published in The journal of gene medicine (01-08-2009)“…Background Inherited apolipoprotein (Apo) A‐I deficiency is an orphan disorder characterized by high‐density lipoprotein (HDL)‐cholesterol deficiency and…”
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Gene therapy for lipoprotein lipase deficiency: working toward clinical application
Published in Human gene therapy (01-11-2005)“…Lipoprotein lipase (LPL) deficiency causes hypertriglyceridemia and recurrent, potentially life-threatening pancreatitis. There currently is no adequate…”
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Lipoprotein profiles in human heterozygote carriers of a functional mutation P297S in scavenger receptor class B1
Published in Biochimica et biophysica acta (01-12-2015)“…The scavenger receptor class B type 1 (SR-B1) is an important HDL receptor involved in cholesterol uptake and efflux, but its physiological role in human…”
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Chylomicronemia With Low Postheparin Lipoprotein Lipase Levels in the Setting of GPIHBP1 Defects
Published in Circulation. Cardiovascular genetics (01-04-2010)“…BACKGROUND—Recent studies in mice have established that an endothelial cell protein, glycosylphosphatidylinositol-anchored high-density lipoprotein-binding…”
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Efficient lowering of triglyceride levels in mice by human apoAV protein variants associated with hypertriglyceridemia
Published in Biochemical and biophysical research communications (06-02-2009)“…Variation in the apolipoprotein A5 (APOA5) gene has consistently been associated with increased plasma triglyceride (TG) levels in epidemiological studies. In…”
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Adeno-associated virus LPL(S447X) gene therapy in LDL receptor knockout mice
Published in Atherosclerosis (01-09-2007)“…Overexpression of lipoprotein lipase (LPL) protects against atherosclerosis in genetically engineered mice. We tested whether a gene therapy vector that…”
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AAV1-LPL(S447X) gene therapy reduces hypertriglyceridemia in apoE2 knock in mice
Published in Biochimica et biophysica acta (01-10-2006)“…Intramuscular (IM) application of adeno-associated virus serotype 1 (AAV1) for the delivery of human lipoprotein lipase (hLPL) was previously shown efficacious…”
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Adeno-associated virus LPLS447X gene therapy in LDL receptor knockout mice
Published in Atherosclerosis (01-09-2007)“…Abstract Background Overexpression of lipoprotein lipase (LPL) protects against atherosclerosis in genetically engineered mice. We tested whether a gene…”
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Adeno-associated virus LPL S447X gene therapy in LDL receptor knockout mice
Published in Atherosclerosis (2007)“…Overexpression of lipoprotein lipase (LPL) protects against atherosclerosis in genetically engineered mice. We tested whether a gene therapy vector that…”
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AAV1-LPLS447X gene therapy reduces hypertriglyceridemia in apoE2 knock in mice
Published in Biochimica et biophysica acta. Molecular and cell biology of lipids (01-10-2006)Get full text
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AAV1-LPL S447X gene therapy reduces hypertriglyceridemia in apoE2 knock in mice
Published in Biochimica et biophysica acta. Molecular and cell biology of lipids (2006)“…Intramuscular (IM) application of adeno-associated virus serotype 1 (AAV1) for the delivery of human lipoprotein lipase (hLPL) was previously shown efficacious…”
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907. Gene Therapy for Genetic Lipoprotein Lipase (LPL) Deficiency; an Update
Published in Molecular therapy (01-05-2005)“…Lipoprotein lipase (LPL) deficiency cannot be effectively treated and causes severe hypertriglyceridemia and pancreatitis. We have reported that…”
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