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Yuki Iwayanagi et al.
PHARMACEUTICAL RESEARCH (2008)
Sex-dependent association of a common low-density lipoprotein receptor polymorphism with RNA splicing efficiency in the brain and Alzheimer's disease
Fanggeng Zou et al.
HUMAN MOLECULAR GENETICS (2008)
Proteomics and lipids of lipoproteins isolated at low salt concentrations in D2O/sucrose or in KBr
Marcus Stahlman et al.
JOURNAL OF LIPID RESEARCH (2008)
Molecular diagnosis of hypobetalipoproteinemia: An ENID review
Patrizia Tarugi et al.
ATHEROSCLEROSIS (2007)
Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene
L. Mannucci et al.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION (2007)
The role of epidermal lipids in cutaneous permeability barrier homeostasis
Kenneth R. Feingold
JOURNAL OF LIPID RESEARCH (2007)
Proteomic and lipid characterization of apolipoprotein B-free luminal lipid droplets from mouse liver Microsomes
Huajin Wang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene
Fabiana Quagliarini et al.
MOLECULAR GENETICS AND METABOLISM (2007)
Roles for the pro-neurotrophin receptor sortilin in neuronal development, aging and brain injury
Pernille Jansen et al.
NATURE NEUROSCIENCE (2007)
RAB-10 regulates glutamate receptor recycling in a cholesterol-dependent endocytosis pathway
Doreen R. Glodowski et al.
MOLECULAR BIOLOGY OF THE CELL (2007)
The sterol transporting heterodimer ABCG5/ABCG8 requires bile salts to mediate cholesterol efflux
Carlos Vrins et al.
FEBS LETTERS (2007)
LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population
Kai-Chien Yang et al.
JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION (2007)
Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients
Livia Pisciotta et al.
ATHEROSCLEROSIS (2007)
Familial defective apolipoprotein B-100 in Slovakia Are differences in prevalence of familial defective apolipoprotein B-100 explained by ethnicity?
Juraj Gasparovic et al.
ATHEROSCLEROSIS (2007)
B cell antigen receptor-induced Rac1 activation and Rac1-dependent spreading are impaired in transitional immature B cells due to levels of membrane cholesterol
Randall J. Brezski et al.
JOURNAL OF IMMUNOLOGY (2007)
Identification of a novel isoform of microsomal triglyceride transfer protein
Peter J. Mohler et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol
Frank Grunhage et al.
HEPATOLOGY (2007)
Genetic defects causing familial hypercholesterolaernia: Identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital lipid clinic
Isabella Tosi et al.
ATHEROSCLEROSIS (2007)
The distribution of squalene and non-cholesterol sterols in lipoproteins in type 2 diabetes
Piia P. Simonen et al.
ATHEROSCLEROSIS (2007)
NPC1L1 (Niemann-Pick Cl-like 1) mediates sterol-specific unidirectional transport of non-esterified cholesterol in McArdle-RH7777 hepatoma cells
J. Mark Brown et al.
BIOCHEMICAL JOURNAL (2007)
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease
Stephan Buch et al.
NATURE GENETICS (2007)
Molecular mechanisms of COPII vesicle formation
Marcus C. S. Lee et al.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2007)
Identification of a VLDL-induced, FDNPVY-independent internalization mechanism for the LDLR
Peter Michaely et al.
EMBO JOURNAL (2007)
A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol
Haiyan Zhu et al.
HUMAN MOLECULAR GENETICS (2007)
Golgi-associated maturation of very low density lipoproteins involves conformational changes in apolipoprotein B, but is not dependent on apolipoprotein E
Viktoria Gusarova et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Hepatic Niemann-Pick C1-like 1 regulates biliary cholesterol concentration and is a target of ezetirnibe
Ryan E. Temel et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Human tribbles-1 controls proliferation and chemotaxis of smooth muscle cells via MAPK signaling pathways
Hye Youn Sung et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
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
Da-Wei Zhang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia
A. Taylor et al.
CLINICAL GENETICS (2007)
Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia
David Cunningham et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2007)
Postprandial lipoprotein metabolism in familial hypobetalipoproteinemia
Amanda J. Hooper et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
Quantifying anomalous intestinal sterol uptake, lymphatic transport, and biliary secretion in Abcg8-/- mice
Helen H. Wang et al.
HEPATOLOGY (2007)
Hypocholesterolemia in chronic anemias with increased erythropoietic activity
Hanna Shalev et al.
AMERICAN JOURNAL OF HEMATOLOGY (2007)
Autosomal recessive hypercholesterolaemia: Discrimination of ARH protein and LDLR function in the homozygous FH phenotype
Aron B. Abera et al.
CLINICA CHIMICA ACTA (2007)
A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol
Tommaso Fasano et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2007)
Angiopoietin-like protein3 regulates plasma HDL cholesterol through suppression of endothelial lipase
Mitsuru Shimamura et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2007)
Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia
Christopher Jones et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
4-Phenylbutyrate restores the functionality of a misfolded mutant low-density lipoprotein receptor
Kristian Tveten et al.
FEBS JOURNAL (2007)
The lipid-lowering effect of ezetimibe in pure vegetarians
Jacob J. Clarenbach et al.
JOURNAL OF LIPID RESEARCH (2006)
Defining lipid-interacting domains in the N-terminal region of apolipoprotein B
Zhenghui Gordon Jiang et al.
BIOCHEMISTRY (2006)
Localization and role of NPC1L1 in cholesterol absorption in human intestine
Alain Theophile Sane et al.
JOURNAL OF LIPID RESEARCH (2006)
Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): A phenotypic comparison
Livia Pisciotta et al.
ATHEROSCLEROSIS (2006)
An open conformation of switch I revealed by Sar1-GDP crystal structure at low Mg2+
Yijian Rao et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)
Model system for phenotypic characterization of sequence variations in the LDL receptor gene
Trine Ranheim et al.
CLINICAL CHEMISTRY (2006)
Role of cholesterol in the function and organization of G-protein coupled receptors
Thomas J. Pucadyil et al.
PROGRESS IN LIPID RESEARCH (2006)
Tribbles: novel regulators of cell function; evolutionary aspects
Z. Hegedus et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2006)
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia
Livia Pisciotta et al.
ATHEROSCLEROSIS (2006)
A targeted apoB38.9 mutation in mice is associated with reduced hepatic cholesterol synthesis and enhanced lipid peroxidation
Xiaobo Lin et al.
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY (2006)
Structure of an LDLR-RAP complex reveals a general mode for ligand recognition by lipoprotein receptors
C Fisher et al.
MOLECULAR CELL (2006)
Cholesterol is required for efficient endoplasmic reticulum-to-Golgi transport of secretory membrane proteins
A Ridsdale et al.
MOLECULAR BIOLOGY OF THE CELL (2006)
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
JC Cohen et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing
SE Humphries et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2006)
Compensatory increase in hepatic lipogenesis in mice with conditional intestine-specific Mttp deficiency
Y Xie et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels
JC Cohen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Liver transplantation in a patient with sitosterolemia and cirrhosis
TA Miettinen et al.
GASTROENTEROLOGY (2006)
Structure of the Sec13/31 COPII coat cage
SM Stagg et al.
NATURE (2006)
Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote
Zhenze Zhao et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Sequence variation in NPC1L1 and association with improved LDL-cholesterol lowering in response to ezetimibe treatment
JS Simon et al.
GENOMICS (2005)
Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene - Long-term follow-up and treatment response
RP Naoumova et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2005)
Update of the molecular basis of familial hypercholesterolemlia in The Netherlands
SW Fouchier et al.
HUMAN MUTATION (2005)
Low-density lipoprotein receptor genotype and response to pravastatin in children with familial hypercholesterolemia - Substudy of an intima-media thickness trial
KCMC Koeijvoets et al.
CIRCULATION (2005)
Transgenic angiopoietin-like (Angptl)4 overexpression and targeted disruption of Angptl4 and Angptl3:: Regulation of triglyceride metabolism
A Köster et al.
ENDOCRINOLOGY (2005)
Investigating the allosterism of acyl-CoA:cholesterol acyltransferase (ACAT) by using various sterols:: in vitro and intact cell studies
J Liu et al.
BIOCHEMICAL JOURNAL (2005)
Modulation of apolipoprotein E structure by domain interaction - Differences in lipid-bound and lipid-free forms
DM Hatters et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
The apoE isoform binding properties of the VLDL receptor reveal marked differences from LRP and the LDL receptor
J Ruiz et al.
JOURNAL OF LIPID RESEARCH (2005)
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia
DC Rees et al.
BRITISH JOURNAL OF HAEMATOLOGY (2005)
Pediatric gallstone disease in familial hypobetalipoproteinemia
S Lancellotti et al.
JOURNAL OF HEPATOLOGY (2005)
Sortilin controls intracellular sorting of brain-derived neurotrophic factor to the regulated secretory pathway
ZY Chen et al.
JOURNAL OF NEUROSCIENCE (2005)
Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor
M Benn et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA
OL Holla et al.
CLINICA CHIMICA ACTA (2005)
A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis
SN Chen et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2005)
Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study
KCM Koeijvoets et al.
ATHEROSCLEROSIS (2005)
Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9
S Rashid et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Complete deficiency of the low-density lipoprotein receptor is associated with increased apolipoprotein B-100 production
JS Millar et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2005)
Two-step mechanism of binding of apolipoprotein E to heparin
M Futamura et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia
J Wang et al.
JOURNAL OF LIPID RESEARCH (2005)
Limited proteolysis and biophysical characterization of the lipovitellin homology region in apolipoprotein B
ZG Jiang et al.
BIOCHEMISTRY (2005)
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
C Jonathan et al.
NATURE GENETICS (2005)
Current biology of MTP: Implications for selective inhibition
CC Shoulders et al.
CURRENT TOPICS IN MEDICINAL CHEMISTRY (2005)
Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL
P Yue et al.
ATHEROSCLEROSIS (2005)
Cholesterol depletion suppresses the translational diffusion of class II major histocompatibility complex proteins in the plasma membrane
M Vrljic et al.
BIOPHYSICAL JOURNAL (2005)
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia
TP Leren
CLINICAL GENETICS (2004)
The intracellular transport of chylomicrons requires the small GTPase, Sar1b
CC Shoulders et al.
CURRENT OPINION IN LIPIDOLOGY (2004)
Niemann-Pick C1 like 1 protein is critical for intestinal cholesterol absorption
SW Altmann et al.
SCIENCE (2004)
Selective sterol accumulation in ABCG5/ABCG8-deficient mice
LQ Yu et al.
JOURNAL OF LIPID RESEARCH (2004)
Hypobetalipoproteinemia with an apparently recessive inheritance due to a de novo mutation of apolipoprotein B
S Lancellotti et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2004)
The low density lipoprotein receptor prevents secretion of dense ApoB100-containing lipoproteins from the liver
SL Larsson et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Localization of ABCG5 and ABCG8 proteins in human liver, gall bladder and intestine
EL Klett et al.
BMC GASTROENTEROLOGY (2004)
Phytosterolemia on the island of Kosrae:: founder effect for a novel ABCG8 mutation results in high carrier rate and increased plasma plant sterol levels
E Sehayek et al.
JOURNAL OF LIPID RESEARCH (2004)
Polymorphisms in the ABCG5 and ABCG8 genes associate with cholesterol absorption and insulin sensitivity
H Gylling et al.
JOURNAL OF LIPID RESEARCH (2004)
Niemann-Pick C1 like 1 (NPC1L1) is the intestinal phytosterol and cholesterol transporter and a key modulator of whole-body cholesterol homeostasis
HR Davis et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Autosomal recessive hypercholesterolemia in three sisters with phenotypic homozygous familial hypercholesterolemia: Diagnostic and therapeutic procedures
HP Thomas et al.
THERAPEUTIC APHERESIS AND DIALYSIS (2004)
Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9
K Ouguerram et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2004)
Impaired recycling of apolipoprotein E4 is associated with intracellular cholesterol accumulation
J Heeren et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Global defects in the expression and function of the low density lipoprotein receptor (LDLR) associated with two familial hypercholesterolemia mutations resulting in misfolding of the LDLR epidermal growth factor-AB pair
EJ Boswell et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Phenotypic heterogeneity of sitosterolemia
J Wang et al.
JOURNAL OF LIPID RESEARCH (2004)
Abnormal in vivo metabolism of apoB-containing lipoproteins in human apoE deficiency
K Ikewaki et al.
JOURNAL OF LIPID RESEARCH (2004)
Cholesterol absorption is mainly regulated by the jejunal and ileal ATP-binding cassette sterol efflux transporters Abcg5 and Abcg8 in mice
LP Duan et al.
JOURNAL OF LIPID RESEARCH (2004)
Two apolipoprotein E mimetic peptides, ApoE(130-149) and ApoE(141-155)2, bind to LRP1
JE Croy et al.
BIOCHEMISTRY (2004)
Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking
GA Graf et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Harmful effects of increased LDLR expression in mice with human APOE*4 but not APOE*3
SI Malloy et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2004)
Autosomal recessive hypercholesterolaemia: normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment
S Lind et al.
JOURNAL OF INTERNAL MEDICINE (2004)
Sitosterolemia in ABC-transporter G5-deficient mice is aggravated on activation of the liver-X receptor (vol 126, pg 944, 2004)
T Plosch et al.
GASTROENTEROLOGY (2004)
Increased production of VLDL apoB-100 in subjects with familial hypercholesterolemia carrying the same null LDL receptor gene mutation
AJ Tremblay et al.
JOURNAL OF LIPID RESEARCH (2004)
Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia
S Bertolini et al.
ATHEROSCLEROSIS (2004)
LDL-receptor mutations in Europe
GVZ Dedoussis et al.
HUMAN MUTATION (2004)
The lysosomal trafficking of sphingolipid activator proteins (SAPs) is mediated by sortilin
S Lefrancois et al.
EMBO JOURNAL (2003)
ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion
GA Graf et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
A splice mutation in a Syrian autosomal recessive hypercholesterolemia family causes a two-nucleotide deletion of mRNA
H Al-Kateb et al.
CIRCULATION RESEARCH (2003)
ABCG5 and ABCG8 are expressed in gallbladder epithelial cells
A Tauscher et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2003)
A 19-year-old man with myocardial infarction and sitosterolemia
S Katayama et al.
INTERNAL MEDICINE (2003)
Clinical features and genetic analysis of autosomal recessive hypercholesterolemia
M Harada-Shiba et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
M Abifadel et al.
NATURE GENETICS (2003)
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders
B Jones et al.
NATURE GENETICS (2003)
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia
JR Burnett et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Comparison of the intestinal uptake of cholesterol, plant sterols, and stanols in mice
M Igel et al.
JOURNAL OF LIPID RESEARCH (2003)
Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population
JT Real et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2003)
Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1
ER Eden et al.
JOURNAL OF CLINICAL INVESTIGATION (2002)
Molecular mechanisms of autosomal recessive hypercholesterolemia
KR Wilund et al.
HUMAN MOLECULAR GENETICS (2002)
Inhibition of intestinal cholesterol absorption by ezetimibe in humans
T Sudhop et al.
CIRCULATION (2002)
Structure of the Sec23/24-Sar1 pre-budding complex of the COPII vesicle coat
XP Bi et al.
NATURE (2002)
Inheritance of cholesterol metabolism of probands with high or low cholesterol absorption
H Gylling et al.
JOURNAL OF LIPID RESEARCH (2002)
Structure of polydispersed colloids characterised by light scattering and electron microscopy
S Heimer et al.
ADVANCES IN COLLOID AND INTERFACE SCIENCE (2002)
Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH:: a clinical and molecular genetic analysis
M Arca et al.
LANCET (2002)
Novel donor splice site mutation of ABCG5 gene in sitosterolemia
CW Lam et al.
MOLECULAR GENETICS AND METABOLISM (2002)
Angptl3 regulates lipid metabolism in mice
R Koishi et al.
NATURE GENETICS (2002)
Phosphatidylinositol 3-kinase-dependent activation of trypsinogen modulates the severity of acute pancreatitis
VP Singh et al.
JOURNAL OF CLINICAL INVESTIGATION (2001)
Clinical characterization of a case with familial hypobetalipoproteinemia caused by Apo B-76, a new truncation of apolipoprotein B, combined with Apo E2/E2 phenotype
K Takahashi et al.
INTERNAL MEDICINE (2001)
The plasma concentration and LDL-C relationship in patients receiving ezetimibe
F Ezzet et al.
JOURNAL OF CLINICAL PHARMACOLOGY (2001)
Apolipoprotein B Arg3500Gln mutation prevalence in children with hypercholesterolemia: A French multicenter study
S Viola et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2001)
Two genes that map to the STSL locus cause sitosterolemia:: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively
KM Lu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Determinants of lipid level variability in French-Canadian children with familial hypercholesterolemia
M Lambert et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2001)
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein
CK Garcia et al.
SCIENCE (2001)
Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: Positive selection is not always necessary to account for disease incidence among Ashkenazi Jews
R Durst et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
The molecular mechanism for the genetic disorder familial defective apolipoprotein B100
J Borén et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
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
C Knouff et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption
MH Lee et al.
NATURE GENETICS (2001)
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters
KE Berge et al.
SCIENCE (2000)
A targeted apolipoprotein B-38.9-producing mutation causes fatty livers in mice due to the reduced ability of apolipoprotein B-38.9 to transport triglycerides
ZJ Chen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia
JP Rabès et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2000)
A mechanism of membrane neutral lipid acquisition by the microsomal triglyceride transfer protein
J Read et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype
S Bertolini et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2000)
Specificity of lipid incorporation is determined by sequences in the N-terminal 37% of ApoB
M Carraway et al.
BIOCHEMISTRY (2000)
Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands
MP Lombardi et al.
CLINICAL GENETICS (2000)
Effect of arginine 172 on the binding of apolipoprotein E to the low density lipoprotein receptor
JA Morrow et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia - A study of patients with familial hypercholesterolemia from Sardinia
L Deiana et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2000)