Published in J Clin Invest on January 01, 2007
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res (2009) 6.83
Molecular processes that handle -- and mishandle -- dietary lipids. J Clin Invest (2008) 1.60
Infection induces a positive acute phase apolipoprotein E response from a negative acute phase gene: role of hepatic LDL receptors. J Lipid Res (2008) 1.58
Atherogenic remnant lipoproteins: role for proteoglycans in trapping, transferring, and internalizing. J Clin Invest (2007) 1.54
Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking. J Clin Invest (2008) 1.51
Chronic overexpression of PNPLA3I148M in mouse liver causes hepatic steatosis. J Clin Invest (2012) 1.45
Low-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasis. Yale J Biol Med (2012) 1.18
The ARH adaptor protein regulates endocytosis of the ROMK potassium secretory channel in mouse kidney. J Clin Invest (2009) 1.13
The metabolism of triglyceride-rich lipoproteins revisited: new players, new insight. Atherosclerosis (2009) 1.12
Current perspectives in genetic cardiovascular disorders: from basic to clinical aspects. Heart Vessels (2013) 1.02
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk. J Lipid Res (2011) 0.96
Identification of a VLDL-induced, FDNPVY-independent internalization mechanism for the LDLR. EMBO J (2007) 0.93
Regulation of ApoB secretion by the low density lipoprotein receptor requires exit from the endoplasmic reticulum and interaction with ApoE or ApoB. J Biol Chem (2008) 0.93
Human LDL receptor enhances sequestration of ApoE4 and VLDL remnants on the surface of hepatocytes but not their internalization in mice. Arterioscler Thromb Vasc Biol (2008) 0.90
Inactivation of Tm6sf2, a Gene Defective in Fatty Liver Disease, Impairs Lipidation but Not Secretion of Very Low Density Lipoproteins. J Biol Chem (2016) 0.87
Enhanced hepatic apoA-I secretion and peripheral efflux of cholesterol and phospholipid in CD36 null mice. PLoS One (2010) 0.87
Low-Density Lipoprotein Receptor-Related Protein 6 (LRP6) Is a Novel Nutritional Therapeutic Target for Hyperlipidemia, Non-Alcoholic Fatty Liver Disease, and Atherosclerosis. Nutrients (2015) 0.85
S-nitrosylation of ARH is required for LDL uptake by the LDL receptor. J Lipid Res (2013) 0.79
Effect of alirocumab on specific lipoprotein non-high-density lipoprotein cholesterol and subfractions as measured by the vertical auto profile method: analysis of 3 randomized trials versus placebo. Lipids Health Dis (2016) 0.78
Endocytic adaptors Arh and Dab2 control homeostasis of circulatory cholesterol. J Lipid Res (2016) 0.77
Endocytosis and Physiology: Insights from Disabled-2 Deficient Mice. Front Cell Dev Biol (2016) 0.75
CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL. Nat Commun (2016) 0.75
The labelling of proteins to high specific radioactivities by conjugation to a 125I-containing acylating agent. Biochem J (1973) 22.93
Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science (1988) 13.54
Receptor-mediated endocytosis of low-density lipoprotein in cultured cells. Methods Enzymol (1983) 10.95
Hypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene delivery. J Clin Invest (1993) 9.56
Normal growth and development in the absence of hepatic insulin-like growth factor I. Proc Natl Acad Sci U S A (1999) 4.84
Elevated levels of SREBP-2 and cholesterol synthesis in livers of mice homozygous for a targeted disruption of the SREBP-1 gene. J Clin Invest (1997) 4.75
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science (2001) 4.32
Acetoacetylated lipoproteins used to distinguish fibroblasts from macrophages in vitro by fluorescence microscopy. Arteriosclerosis (1981) 3.74
Monoclonal antibodies to the low density lipoprotein receptor as probes for study of receptor-mediated endocytosis and the genetics of familial hypercholesterolemia. J Biol Chem (1981) 3.54
Enhanced binding by cultured human fibroblasts of apo-E-containing lipoproteins as compared with low density lipoproteins. Biochemistry (1978) 3.11
Inducible inactivation of hepatic LRP gene by cre-mediated recombination confirms role of LRP in clearance of chylomicron remnants. J Clin Invest (1998) 3.06
Diet-induced hypercholesterolemia in mice: prevention by overexpression of LDL receptors. Science (1990) 3.01
Saturation and suppression of hepatic lipoprotein receptors: a mechanism for the hypercholesterolemia of cholesterol-fed rabbits. Proc Natl Acad Sci U S A (1981) 2.82
Sustained somatic gene inactivation by viral transfer of Cre recombinase. Nat Biotechnol (1996) 2.71
Disruption of LDL receptor gene in transgenic SREBP-1a mice unmasks hyperlipidemia resulting from production of lipid-rich VLDL. J Clin Invest (1999) 2.66
Determining hepatic triglyceride production in mice: comparison of poloxamer 407 with Triton WR-1339. J Lipid Res (2005) 2.61
Clearance and binding of two electrophoretic "fast" forms of human alpha 2-macroglobulin. J Biol Chem (1981) 2.15
ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2. J Biol Chem (2002) 1.89
Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis. Lancet (2002) 1.69
Receptor clustering is involved in Reelin signaling. Mol Cell Biol (2004) 1.66
The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery. Proc Natl Acad Sci U S A (2002) 1.66
Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients. Nutr Metab (1973) 1.63
Stable expression and secretion of apolipoproteins E3 and E4 in mouse neuroblastoma cells produces differential effects on neurite outgrowth. J Biol Chem (1995) 1.61
Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia. J Biol Chem (2003) 1.56
Tissue-specific sorting of the human LDL receptor in polarized epithelia of transgenic mice. J Cell Biol (1990) 1.55
The role of the LDL receptor in apolipoprotein B secretion. J Clin Invest (2000) 1.46
Cell surface receptor binding of phospholipid . protein complexes containing different ratios of receptor-active and -inactive E apoprotein. J Biol Chem (1980) 1.33
beta-Arrestin/AP-2 interaction in G protein-coupled receptor internalization: identification of a beta-arrestin binging site in beta 2-adaptin. J Biol Chem (2002) 1.30
The modular adaptor protein autosomal recessive hypercholesterolemia (ARH) promotes low density lipoprotein receptor clustering into clathrin-coated pits. J Biol Chem (2005) 1.25
Functional dissection of an AP-2 beta2 appendage-binding sequence within the autosomal recessive hypercholesterolemia protein. J Biol Chem (2005) 1.24
Reconstituted low density lipoprotein: a vehicle for the delivery of hydrophobic fluorescent probes to cells. J Supramol Struct (1979) 1.23
Endocytosed beta-VLDL and LDL are delivered to different intracellular vesicles in mouse peritoneal macrophages. J Cell Biol (1990) 1.22
Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia. J Clin Invest (1999) 1.10
The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits. J Biol Chem (2004) 1.10
Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol (1999) 1.06
Beta-very low density lipoprotein is sequestered in surface-connected tubules in mouse peritoneal macrophages. J Cell Biol (1993) 1.06
Measurement of nanogram quantities of protein by hydrolysis followed by reaction with orthophthalaldehyde or determination of glutamate. Anal Biochem (1976) 1.04
A comparison of the roles of the low density lipoprotein (LDL) receptor and the LDL receptor-related protein/alpha 2-macroglobulin receptor in chylomicron remnant removal in the mouse in vivo. J Biol Chem (1993) 1.04
Severe hypercholesterolaemia: unusual inheritance in an Italian pedigree. Eur J Clin Invest (1995) 1.02
Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison. Atherosclerosis (2005) 1.00
Doubling expression of the low density lipoprotein receptor by truncation of the 3'-untranslated region sequence ameliorates type iii hyperlipoproteinemia in mice expressing the human apoe2 isoform. J Biol Chem (2000) 0.94
Ability of the LDL receptor from several animal species to recognize the human apo B binding domain: studies with LDL from familial defective apo B-100. Atherosclerosis (1992) 0.92
Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families. Am J Hum Genet (2001) 0.92
Normal production rate of apolipoprotein B in LDL receptor-deficient mice. Arterioscler Thromb Vasc Biol (2002) 0.89
Autosomal recessive hypercholesterolaemia: long-term follow up and response to treatment. Atherosclerosis (2004) 0.85
Delayed low density lipoprotein (LDL) catabolism despite a functional intact LDL-apolipoprotein B particle and LDL-receptor in a subject with clinical homozygous familial hypercholesterolemia. J Clin Endocrinol Metab (1998) 0.85
Disruption of autosomal recessive hypercholesterolemia gene shows different phenotype in vitro and in vivo. Circ Res (2004) 0.83
Siblings with normal LDL receptor activity and severe hypercholesterolemia. Arterioscler Thromb (1992) 0.81
Clinical and biochemical characterisation of patients with autosomal recessive hypercholesterolemia (ARH). Nutr Metab Cardiovasc Dis (2003) 0.79
The LDL receptor is the major pathway for beta-VLDL uptake by mouse peritoneal macrophages. Atherosclerosis (2001) 0.78
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med (2006) 23.83
Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science (2004) 21.65
Bcl-2 antiapoptotic proteins inhibit Beclin 1-dependent autophagy. Cell (2005) 21.01
A common allele on chromosome 9 associated with coronary heart disease. Science (2007) 20.37
Prevalence of hepatic steatosis in an urban population in the United States: impact of ethnicity. Hepatology (2004) 18.86
Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet (2007) 13.78
Clinical and biological features associated with epidermal growth factor receptor gene mutations in lung cancers. J Natl Cancer Inst (2005) 13.00
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet (2005) 12.12
Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet (2008) 10.87
The Dallas Heart Study: a population-based probability sample for the multidisciplinary study of ethnic differences in cardiovascular health. Am J Cardiol (2004) 9.43
Magnetic resonance spectroscopy to measure hepatic triglyceride content: prevalence of hepatic steatosis in the general population. Am J Physiol Endocrinol Metab (2004) 8.36
Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Natl Acad Sci U S A (2006) 8.20
Suppression of aging in mice by the hormone Klotho. Science (2005) 8.11
Human fatty liver disease: old questions and new insights. Science (2011) 8.03
A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. Am J Hum Genet (2006) 7.89
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med (2010) 6.84
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature (2003) 6.40
Antineutrophil cytoplasmic autoantibodies specific for myeloperoxidase cause glomerulonephritis and vasculitis in mice. J Clin Invest (2002) 5.42
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J Clin Invest (2008) 5.05
Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9. Proc Natl Acad Sci U S A (2005) 4.56
Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest (2003) 4.42
Pnpla3I148M knockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis. Hepatology (2014) 4.01
PCSK9: a convertase that coordinates LDL catabolism. J Lipid Res (2008) 3.92
LRP: role in vascular wall integrity and protection from atherosclerosis. Science (2003) 3.89
Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol. J Clin Invest (2002) 3.85
Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice. Nature (2010) 3.77
Molecular biology of PCSK9: its role in LDL metabolism. Trends Biochem Sci (2007) 3.59
Secreted PCSK9 decreases the number of LDL receptors in hepatocytes and in livers of parabiotic mice. J Clin Invest (2006) 3.54
Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation. J Biol Chem (2007) 3.45
Mutations and addiction to EGFR: the Achilles 'heal' of lung cancers? Trends Mol Med (2004) 3.44
A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis. J Biol Chem (2009) 3.41
Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote. Am J Hum Genet (2006) 3.38
Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I. J Clin Invest (2005) 3.25
Modulation of synaptic plasticity and memory by Reelin involves differential splicing of the lipoprotein receptor Apoer2. Neuron (2005) 3.25
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest (2007) 3.20
The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. Proc Natl Acad Sci U S A (2007) 3.11
Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion. Proc Natl Acad Sci U S A (2002) 3.09
Smooth muscle-selective deletion of guanylyl cyclase-A prevents the acute but not chronic effects of ANP on blood pressure. Proc Natl Acad Sci U S A (2002) 3.03
Nanospring behaviour of ankyrin repeats. Nature (2006) 3.02
Increased cellular free cholesterol in macrophage-specific Abca1 knock-out mice enhances pro-inflammatory response of macrophages. J Biol Chem (2008) 2.87
One at a time, live tracking of NGF axonal transport using quantum dots. Proc Natl Acad Sci U S A (2007) 2.74
Dietary cholesterol, rather than liver steatosis, leads to hepatic inflammation in hyperlipidemic mouse models of nonalcoholic steatohepatitis. Hepatology (2008) 2.73
Identification of neuronal RNA targets of TDP-43-containing ribonucleoprotein complexes. J Biol Chem (2010) 2.72
Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels. Hum Mol Genet (2002) 2.71
Reelin and ApoE receptors cooperate to enhance hippocampal synaptic plasticity and learning. J Biol Chem (2002) 2.67
Atypical angiopoietin-like protein that regulates ANGPTL3. Proc Natl Acad Sci U S A (2012) 2.62
Amyloid precursor protein regulates brain apolipoprotein E and cholesterol metabolism through lipoprotein receptor LRP1. Neuron (2007) 2.55
ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion. J Biol Chem (2003) 2.48
TDP-43 is a developmentally regulated protein essential for early embryonic development. J Biol Chem (2009) 2.40
A feed-forward loop amplifies nutritional regulation of PNPLA3. Proc Natl Acad Sci U S A (2010) 2.34
Recipes for creating animal models of diabetic cardiovascular disease. Circ Res (2007) 2.34
Reelin activates SRC family tyrosine kinases in neurons. Curr Biol (2003) 2.29
Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol. Am J Hum Genet (2007) 2.28
Targeted deletion of the ileal bile acid transporter eliminates enterohepatic cycling of bile acids in mice. J Biol Chem (2003) 2.26
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Hum Mol Genet (2010) 2.19
Tamm-Horsfall protein knockout mice are more prone to urinary tract infection: rapid communication. Kidney Int (2004) 2.17
African Americans and Caucasians have a similar prevalence of coronary calcium in the Dallas Heart Study. J Am Coll Cardiol (2004) 2.16
Dissociation between APOC3 variants, hepatic triglyceride content and insulin resistance. Hepatology (2010) 2.09
Molecular phenotyping for analyzing subtle genetic effects in mice: application to an angiotensinogen gene titration. Proc Natl Acad Sci U S A (2002) 2.08
Genome-wide linkage and association analyses to identify genes influencing adiponectin levels: the GEMS Study. Obesity (Silver Spring) (2009) 2.07
Schoenheimer effect explained--feedback regulation of cholesterol synthesis in mice mediated by Insig proteins. J Clin Invest (2005) 2.03
Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface. J Clin Invest (2002) 2.02
Apolipoprotein E and apolipoprotein E receptors: normal biology and roles in Alzheimer disease. Cold Spring Harb Perspect Med (2012) 2.01
Harmful effects of increased LDLR expression in mice with human APOE*4 but not APOE*3. Arterioscler Thromb Vasc Biol (2003) 2.00
The role of natriuretic peptides in cardioprotection. Cardiovasc Res (2005) 2.00
The role of neutrophils in the induction of glomerulonephritis by anti-myeloperoxidase antibodies. Am J Pathol (2005) 1.97
Mice lacking ANGPTL8 (Betatrophin) manifest disrupted triglyceride metabolism without impaired glucose homeostasis. Proc Natl Acad Sci U S A (2013) 1.96
WholePathwayScope: a comprehensive pathway-based analysis tool for high-throughput data. BMC Bioinformatics (2006) 1.95
Genetic and metabolic determinants of plasma PCSK9 levels. J Clin Endocrinol Metab (2009) 1.95
No association between plasma levels of plant sterols and atherosclerosis in mice and men. Arterioscler Thromb Vasc Biol (2004) 1.93