(Q27003094)

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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk

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11 February 2020

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Europe PubMed Central

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk (English)

2 references

Europe PubMed Central

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11 February 2020

Patrizia Tarugi

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11 February 2020

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Sebastiano Calandra

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11 February 2020

Helen E Speedy

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11 February 2020

Andrew F Dean

4

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11 February 2020

Stefano Bertolini

5

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11 February 2020

Carol C Shoulders

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11 February 2020

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23 August 2011

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11 February 2020

Journal of Lipid Research

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11 February 2020

52

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11 February 2020

11

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11 February 2020

1885-1926

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11 February 2020

Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability

1 reference

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21 March 2017

The structure of the NPC1L1 N-terminal domain in a closed conformation

1 reference

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From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

1 reference

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21 March 2017

Biological, clinical and population relevance of 95 loci for blood lipids

1 reference

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APOE/C1/C4/C2 gene cluster genotypes, haplotypes and lipid levels in prospective coronary heart disease risk among UK healthy men

1 reference

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LXR regulates cholesterol uptake through Idol-dependent ubiquitination of the LDL receptor

1 reference

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Bile acids: regulation of synthesis

1 reference

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Membrane topology of human NPC1L1, a key protein in enterohepatic cholesterol absorption

1 reference

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Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13

1 reference

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Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study

1 reference

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Structural basis for cargo regulation of COPII coat assembly

1 reference

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Abetalipoproteinemia: two case reports and literature review

1 reference

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Human tribbles-1 controls proliferation and chemotaxis of smooth muscle cells via MAPK signaling pathways

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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

1 reference

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A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol

1 reference

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21 March 2017

Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

21 March 2017

Angiopoietin-like protein3 regulates plasma HDL cholesterol through suppression of endothelial lipase

1 reference

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Liver transplantation in a patient with sitosterolemia and cirrhosis.

1 reference

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Sortilin controls intracellular sorting of brain-derived neurotrophic factor to the regulated secretory pathway.

1 reference

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Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor

1 reference

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21 March 2017

Localization of ABCG5 and ABCG8 proteins in human liver, gall bladder and intestine

1 reference

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21 March 2017

The lysosomal trafficking of sphingolipid activator proteins (SAPs) is mediated by sortilin

1 reference

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21 March 2017

ABCG5 and ABCG8 Are Obligate Heterodimers for Protein Trafficking and Biliary Cholesterol Excretion

1 reference

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Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1

1 reference

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21 March 2017

Molecular mechanisms of autosomal recessive hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

21 March 2017

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

1 reference

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21 March 2017

Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption

1 reference

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21 March 2017

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

1 reference

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21 March 2017

Sortilin/neurotensin receptor-3 binds and mediates degradation of lipoprotein lipase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

21 March 2017

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

21 March 2017

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

21 March 2017

A PCSK9-binding antibody that structurally mimics the EGF(A) domain of LDL-receptor reduces LDL cholesterol in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

21 March 2017

Structure of the Minimal Interface Between ApoE and LRP

1 reference

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21 March 2017

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

21 March 2017

Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

21 March 2017

Structure of the Sec23/24-Sar1 pre-budding complex of the COPII vesicle coat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

21 March 2017

Human apolipoprotein E. Role of arginine 61 in mediating the lipoprotein preferences of the E3 and E4 isoforms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

21 March 2017

Three-dimensional structure of the LDL receptor-binding domain of human apolipoprotein E

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

21 March 2017

Angiopoietin-like protein 3 inhibits lipoprotein lipase activity through enhancing its cleavage by proprotein convertases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

21 March 2017

The angiopoietin-like proteins ANGPTL3 and ANGPTL4 inhibit lipoprotein lipase activity through distinct mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

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Clinical features and genetic analysis of autosomal recessive hypercholesterolemia

1 reference

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21 March 2017

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

1 reference

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21 March 2017

Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia

1 reference

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Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis

1 reference

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Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8

1 reference

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21 March 2017

Novel donor splice site mutation of ABCG5 gene in sitosterolemia

1 reference

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21 March 2017

Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia

1 reference

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Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

1 reference

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Apolipoprotein E1 Lys-146----Glu with type III hyperlipoproteinemia

1 reference

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Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

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Large scale replication analysis of loci associated with lipid concentrations in a Japanese population

1 reference

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Structural requirements for PCSK9-mediated degradation of the low-density lipoprotein receptor

1 reference

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Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol

1 reference

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21 March 2017

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1 reference

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21 March 2017

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

1 reference

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1 reference

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1 reference

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1 reference

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21 March 2017

Identification of a novel isoform of microsomal triglyceride transfer protein

1 reference

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21 March 2017

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1 reference

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1 reference

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1 reference

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21 March 2017

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1 reference

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1 reference

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21 March 2017

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1 reference

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21 March 2017

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1 reference

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21 March 2017

Angptl3 regulates lipid metabolism in mice

1 reference

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21 March 2017

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

1 reference

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7 April 2017

Combined effects of ezetimibe and phytosterols on cholesterol metabolism: a randomized, controlled feeding study in humans.

1 reference

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1 reference

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28 September 2017

PCSK9: an emerging target for treatment of hypercholesterolemia

1 reference

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28 September 2017

Molecular characterization of the NPC1L1 variants identified from cholesterol low absorbers

1 reference

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28 September 2017

Atorvastatin increases intestinal expression of NPC1L1 in hyperlipidemic men

1 reference

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28 September 2017

Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin.

1 reference

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28 September 2017

Trib1 is a lipid- and myocardial infarction-associated gene that regulates hepatic lipogenesis and VLDL production in mice

1 reference

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28 September 2017

Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models

1 reference

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28 September 2017

Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish

1 reference

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28 September 2017

Malformation syndromes caused by disorders of cholesterol synthesis

1 reference

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28 September 2017

Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers

1 reference

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28 September 2017

Genetic variants influencing circulating lipid levels and risk of coronary artery disease

1 reference

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28 September 2017

Strategies for proprotein convertase subtilisin kexin 9 modulation: a perspective on recent patents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Association of common DNA sequence variants at 33 genetic loci with blood lipids in individuals of African ancestry from Jamaica

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Molecular spectrum of autosomal dominant hypercholesterolemia in France

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Fasting reduces plasma proprotein convertase, subtilisin/kexin type 9 and cholesterol biosynthesis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Identification of surface residues on Niemann-Pick C2 essential for hydrophobic handoff of cholesterol to NPC1 in lysosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

ABCG5/G8 polymorphisms and markers of cholesterol metabolism: systematic review and meta-analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

PCSK9 R46L, low-density lipoprotein cholesterol levels, and risk of ischemic heart disease: 3 independent studies and meta-analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Golgi-to-phagosome transport of acid sphingomyelinase and prosaposin is mediated by sortilin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Genetic regulation of serum phytosterol levels and risk of coronary artery disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

High-dose atorvastatin causes a rapid sustained increase in human serum PCSK9 and disrupts its correlation with LDL cholesterol

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

HNF1alpha and SREBP2 are important regulators of NPC1L1 in human liver

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Apolipoprotein B100 biogenesis: a complex array of intracellular mechanisms regulating folding, stability, and lipoprotein assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Human luteinized granulosa cells secrete apoB100-containing lipoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Interfacial properties of apolipoprotein B292-593 (B6.4-13) and B611-782 (B13-17). Insights into the structure of the lipovitellin homology region in apolipoprotein B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Association analysis of 33 lipoprotein candidate genes in multi-generational families of African ancestry.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

NPC1L1 and cholesterol transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Regulation of bile acid synthesis by fat-soluble vitamins A and D.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Bile acids stimulate ATP hydrolysis in the purified cholesterol transporter ABCG5/G8.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Lipids and cholesterol as regulators of traffic in the endomembrane system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Moderate phenotypic expression of familial hypercholesterolemia in Tunisia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Expression of apolipoprotein B in the kidney attenuates renal lipid accumulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Model of human low-density lipoprotein and bound receptor based on cryoEM

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Strong induction of PCSK9 gene expression through HNF1alpha and SREBP2: mechanism for the resistance to LDL-cholesterol lowering effect of statins in dyslipidemic hamsters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Decoding of lipoprotein-receptor interactions: properties of ligand binding modules governing interactions with apolipoprotein E.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

VLDL lipolysis products increase VLDL fluidity and convert apolipoprotein E4 into a more expanded conformation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport of cholesterol in Niemann-Pick type C cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Genetic variation at the NPC1L1 gene locus, plasma lipoproteins, and heart disease risk in the elderly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

The inactivation of the sortilin gene leads to a partial disruption of prosaposin trafficking to the lysosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Apolipoproteins A-I, A-II and E are independently distributed among intracellular and newly secreted HDL of human hepatoma cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

The role of calcium in lipoprotein release by the low-density lipoprotein receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Statins inhibit Akt/PKB signaling via P2X7 receptor in pancreatic cancer cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Rapid constitutive and ligand-activated endocytic trafficking of P2X receptor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

The Vps10p-domain receptor family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Genetic and metabolic determinants of plasma PCSK9 levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Proprotein convertase subtilisin kexin type 9 null mice are protected from postprandial triglyceridemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Phytosterols as functional food ingredients: linkages to cardiovascular disease and cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

PCSK9: a convertase that coordinates LDL catabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Transport of LDL-derived cholesterol from the NPC1 compartment to the ER involves the trans-Golgi network and the SNARE protein complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Higher frequency of abnormal serum angiopoietin-like protein 3 than abnormal cholesteryl ester transfer protein in Japanese hyperalphalipoproteinemic subjects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Charged amino acid residues 997-1000 of human apolipoprotein B100 are critical for the initiation of lipoprotein assembly and the formation of a stable lipidated primordial particle in McA-RH7777 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Structural and dynamic interfacial properties of the lipoprotein initiating domain of apolipoprotein B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Extracellular loop C of NPC1L1 is important for binding to ezetimibe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Absence of hyperlipidemia in LDL receptor-deficient mice having apolipoprotein B100 without the putative receptor-binding sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

The cholesterol absorption inhibitor ezetimibe acts by blocking the sterol-induced internalization of NPC1L1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Role of the N- and C-terminal domains in binding of apolipoprotein E isoforms to heparan sulfate and dermatan sulfate: a surface plasmon resonance study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Microsomal triglyceride transfer protein enhances cellular cholesteryl esterification by relieving product inhibition.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

APOE/C1/C4/C2 hepatic control region polymorphism influences plasma apoE and LDL cholesterol levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Functional analysis of sites within PCSK9 responsible for hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Regulation of ApoB secretion by the low density lipoprotein receptor requires exit from the endoplasmic reticulum and interaction with ApoE or ApoB.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

HNF4alpha is a crucial modulator of the cholesterol-dependent regulation of NPC1L1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Sex-dependent association of a common low-density lipoprotein receptor polymorphism with RNA splicing efficiency in the brain and Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Proteomics and lipids of lipoproteins isolated at low salt concentrations in D2O/sucrose or in KBr.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Thematic review series: skin lipids. The role of epidermal lipids in cutaneous permeability barrier homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Proteomic and lipid characterization of apolipoprotein B-free luminal lipid droplets from mouse liver microsomes: implications for very low density lipoprotein assembly.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

RAB-10 regulates glutamate receptor recycling in a cholesterol-dependent endocytosis pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Molecular mechanisms of COPII vesicle formation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

NPC1L1 (Niemann-Pick C1-like 1) mediates sterol-specific unidirectional transport of non-esterified cholesterol in McArdle-RH7777 hepatoma cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Defining lipid-interacting domains in the N-terminal region of apolipoprotein B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Model system for phenotypic characterization of sequence variations in the LDL receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Role of cholesterol in the function and organization of G-protein coupled receptors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Cholesterol is required for efficient endoplasmic reticulum-to-Golgi transport of secretory membrane proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Structure of the Sec13/31 COPII coat cage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Investigating the allosterism of acyl-CoA:cholesterol acyltransferase (ACAT) by using various sterols: in vitro and intact cell studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

The apoE isoform binding properties of the VLDL receptor reveal marked differences from LRP and the LDL receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Current biology of MTP: implications for selective inhibition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Limited proteolysis and biophysical characterization of the lipovitellin homology region in apolipoprotein B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

LDL-receptor mutations in Europe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Cholesterol depletion suppresses the translational diffusion of class II major histocompatibility complex proteins in the plasma membrane

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Impaired recycling of apolipoprotein E4 is associated with intracellular cholesterol accumulation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Two apolipoprotein E mimetic peptides, ApoE(130-149) and ApoE(141-155)2, bind to LRP1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

The intracellular transport of chylomicrons requires the small GTPase, Sar1b

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Selective sterol accumulation in ABCG5/ABCG8-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Genetic Analysis of Indicators of Cholesterol Synthesis and Absorption: Lathosterol and Phytosterols in Dutch Twins and Their Parents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

A SYSTEM FOR PHENOTYPING HYPERLIPOPROTEINEMIA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

A 19-year-old man with myocardial infarction and sitosterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

LDL receptor-related protein mediates cell-surface clustering and hepatic sequestration of chylomicron remnants in LDLR-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

The role of the microsomal triglygeride transfer protein in abetalipoproteinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

The apolipoprotein B R3531C mutation. Characteristics of 24 subjects from 9 kindreds.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Identification of the principal proteoglycan-binding site in LDL. A single-point mutation in apo-B100 severely affects proteoglycan interaction without affecting LDL receptor binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146-->Glu).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Sterol absorption and sterol balance in phytosterolemia evaluated by deuterium-labeled sterols: effect of sitostanol treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Role of Apolipoprotein E-containing Lipoproteins in Abetalipoproteinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Hypobetalipoproteinemia with accumulation of an apoprotein B-like protein in intestinal cells. Immunoenzymatic and biochemical characterization of seven cases of Anderson's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Influence of apolipoprotein E polymorphism on apolipoprotein B-100 metabolism in normolipemic subjects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Enhanced clearance from plasma of low density lipoproteins containing a truncated apolipoprotein, apoB-89.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 September 2017

Phytosterol ester processing in the small intestine: impact on cholesterol availability for absorption and chylomicron cholesterol incorporation in healthy humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Ubiquitination regulates the assembly of VLDL in HepG2 cells and is the committing step of the apoB-100 ERAD pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Hepatic autophagy mediates endoplasmic reticulum stress-induced degradation of misfolded apolipoprotein B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Molecular basis for the differences in lipid and lipoprotein binding properties of human apolipoproteins E3 and E4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Safety and efficacy of ezetimibe/simvastatin combination versus atorvastatin alone in adults ≥65 years of age with hypercholesterolemia and with or at moderately high/high risk for coronary heart disease (the VYTELD study).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

A stretch of 17 amino acids in the prosaposin C terminus is critical for its binding to sortilin and targeting to lysosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Mechanism of LDL binding and release probed by structure-based mutagenesis of the LDL receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Microsomal triglyceride transfer protein regulates endogenous and exogenous antigen presentation by group 1 CD1 molecules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Niemann-pick C1-like 1 mediates alpha-tocopherol transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Human LDL receptor enhances sequestration of ApoE4 and VLDL remnants on the surface of hepatocytes but not their internalization in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Familial hypercholesterolaemia in Portugal.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Identification of a VLDL-induced, FDNPVY-independent internalization mechanism for the LDLR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Hepatic Niemann-Pick C1-like 1 regulates biliary cholesterol concentration and is a target of ezetimibe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Quantifying anomalous intestinal sterol uptake, lymphatic transport, and biliary secretion in Abcg8(-/-) mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Compensatory increase in hepatic lipogenesis in mice with conditional intestine-specific Mttp deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

ABCG5 and ABCG8 are expressed in gallbladder epithelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Effect of arginine 172 on the binding of apolipoprotein E to the low density lipoprotein receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Genes for apolipoprotein B and microsomal triglyceride transfer protein are expressed in the heart: evidence that the heart has the capacity to synthesize and secrete lipoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Human apolipoprotein E4 domain interaction. Arginine 61 and glutamic acid 255 interact to direct the preference for very low density lipoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Donor splice mutation generates a lipid-associated apolipoprotein B-27.6 in a patient with homozygous hypobetalipoproteinemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Studies on lipoprotein metabolism in a family with jejunal chylomicron retention.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Mapping of antigenic determinants of human apolipoprotein B using monoclonal antibodies against low density lipoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Intestinal apoB synthesis, lipids, and lipoproteins in chylomicron retention disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

The effect of abnormal plasma and cellular sterol content and composition on low density lipoprotein uptake and degradation by monocytes and lymphocytes in sitosterolemia with xanthomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

The use of monoclonal antibodies to localize the low density lipoprotein receptor-binding domain of apolipoprotein B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Unexpected failure of bile acid malabsorption to stimulate cholesterol synthesis in sitosterolemia with xanthomatosis. Comparison with lovastatin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Increased sitosterol absorption is offset by rapid elimination to prevent accumulation in heterozygotes with sitosterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

A truncated species of apolipoprotein B, B-83, associated with hypobetalipoproteinemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

31 May 2018

Use of bacterial expression cloning to localize the epitopes for a series of monoclonal antibodies against apolipoprotein B100

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

19 June 2018

Free cholesterol accumulation in macrophage membranes activates Toll-like receptors and p38 mitogen-activated protein kinase and induces cathepsin K.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

The effect of simvastatin on the proteome of detergent-resistant membrane domains: decreases of specific proteins previously related to cytoskeleton regulation, calcium homeostasis and cell fate.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

NuMA is a major acceptor of poly(ADP-ribosyl)ation by tankyrase 1 in mitosis.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Inheritance of cholesterol metabolism of probands with high or low cholesterol absorption

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Lipid profiling of FPLC-separated lipoprotein fractions by electrospray ionization tandem mass spectrometry

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Cholesterol absorption is mainly regulated by the jejunal and ileal ATP-binding cassette sterol efflux transporters Abcg5 and Abcg8 in mice

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Sitosterolemia in ABC-transporter G5-deficient mice is aggravated on activation of the liver-X receptor.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

The plasma concentration and LDL-C relationship in patients receiving ezetimibe

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Inhibition of intestinal cholesterol absorption by ezetimibe in humans

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

The role of ezetimibe in the prevention of cardiovascular disease: where do we stand after ARBITER 6-HALTS.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Niemann-Pick C1 Like 1 (NPC1L1) is the intestinal phytosterol and cholesterol transporter and a key modulator of whole-body cholesterol homeostasis

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Genetic inactivation of NPC1L1 protects against sitosterolemia in mice lacking ABCG5/ABCG8.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Sequence variation in NPC1L1 and association with improved LDL-cholesterol lowering in response to ezetimibe treatment

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Comparison of the intestinal uptake of cholesterol, plant sterols, and stanols in mice

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Phenotypic heterogeneity of sitosterolemia

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Adrenal insufficiency in phytosterolaemia.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Phytosterolemia on the island of Kosrae: founder effect for a novel ABCG8 mutation results in high carrier rate and increased plasma plant sterol levels

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Polymorphisms in the ABCG5 and ABCG8 genes associate with cholesterol absorption and insulin sensitivity

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Hepatic cholesterol transporter ABCG8 polymorphisms in gallstone disease in an Indian population

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Association of the functional variant in the 3-hydroxy-3-methylglutaryl-coenzyme a reductase gene with low-density lipoprotein-cholesterol in Japanese

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Severe hyperthyroidism: aetiology, clinical features and treatment outcome

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Postprandial lipoprotein metabolism in familial hypobetalipoproteinemia.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

A truncated species of apolipoprotein B (B-38.7) in a patient with homozygous hypobetalipoproteinemia associated with diabetes mellitus.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Pediatric gallstone disease in familial hypobetalipoproteinemia.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Normal intestinal dietary fat and cholesterol absorption, intestinal apolipoprotein B (ApoB) mRNA levels, and ApoB-48 synthesis in a hypobetalipoproteinemic kindred without any ApoB truncation.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Abnormal in vivo metabolism of apoB-containing lipoproteins in human apoE deficiency.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Common and rare alleles in apolipoprotein B contribute to plasma levels of low-density lipoprotein cholesterol in the general population

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Transgenic angiopoietin-like (angptl)4 overexpression and targeted disruption of angptl4 and angptl3: regulation of triglyceride metabolism.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Anderson's disease: exclusion of apolipoprotein and intracellular lipid transport genes

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Chylomicron retention disease: a long term study of two cohorts

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

An open conformation of switch I revealed by Sar1-GDP crystal structure at low Mg2+.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Roles for the pro-neurotrophin receptor sortilin in neuronal development, aging and brain injury

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

TRIB1 and GCKR polymorphisms, lipid levels, and risk of ischemic heart disease in the general population.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

4-Phenylbutyrate restores the functionality of a misfolded mutant low-density lipoprotein receptor.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Commentary PCSK9 variants: A new database

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Update of the molecular basis of familial hypercholesterolemia in The Netherlands

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Hypocholesterolemia in adult patients with thalassemia: a link with the severity of genotype in thalassemia intermedia patients

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Determinants of lipid level variability in French-Canadian children with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Two-step mechanism of binding of apolipoprotein E to heparin: implications for the kinetics of apolipoprotein E-heparan sulfate proteoglycan complex formation on cell surfaces

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Harmful effects of increased LDLR expression in mice with human APOE*4 but not APOE*3.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Complete deficiency of the low-density lipoprotein receptor is associated with increased apolipoprotein B-100 production.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Increased production of VLDL apoB-100 in subjects with familial hypercholesterolemia carrying the same null LDL receptor gene mutation

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Apolipoprotein B Arg3500Gln mutation prevalence in children with hypercholesterolemia: a French multicenter study

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Molecular characterization of familial hypercholesterolemia in German and Greek patients.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

A double heterozygote for familial hypercholesterolaemia and familial defective apolipoprotein B-100.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Phenotypic variation in patients heterozygous for familial defective apolipoprotein B (FDB) in three European countries.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Update of the Portuguese Familial Hypercholesterolaemia Study

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Autosomal recessive hypercholesterolaemia: discrimination of ARH protein and LDLR function in the homozygous FH phenotype

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Autosomal recessive hypercholesterolaemia: normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Autosomal recessive hypercholesterolemia in three sisters with phenotypic homozygous familial hypercholesterolemia: diagnostic and therapeutic procedures

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Circulating proprotein convertase subtilisin kexin type 9 has a diurnal rhythm synchronous with cholesterol synthesis and is reduced by fasting in humans

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Increased secretion of lipoproteins in transgenic mice expressing human D374Y PCSK9 under physiological genetic control.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Competitive solubilization of cholesterol and six species of sterol/stanol in bile salt micelles

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

A unified scheme for initiation and conformational adaptation of human apolipoprotein E N-terminal domain upon lipoprotein binding and for receptor binding activity

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Low-density lipoprotein receptor genotype and response to pravastatin in children with familial hypercholesterolemia: substudy of an intima-media thickness trial

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

APOE genotype, lipids, and coronary heart disease risk: a prospective population study

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Relationship of the ApoE polymorphism to plasma lipid traits among South Asians, Chinese, and Europeans living in Canada

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Identification of genetic variants associated with response to statin therapy

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Gallstone disease in Swedish twins: risk is associated with ABCG8 D19H genotype

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of theLDLRgene in patients with familial hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Localization and role of NPC1L1 in cholesterol absorption in human intestine

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R017855

21 January 2018

Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 November 2018

A boy with autosomal recessive hypercholesterolaemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 November 2018

Sitosterolaemia and xanthomatosis in a child.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 November 2018

Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 November 2018

Percent cholesterol absorption in normal women and men quantified with dual stable isotopic tracers and negative ion mass spectrometry.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 November 2018

Donor splice mutation (665 + 1 G_T) in familial hypobetalipoproteinemia with no detectable apoB truncation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 November 2018

Immunoelectron microscopy of low density lipoproteins yields a ribbon and bow model for the conformation of apolipoprotein B on the lipoprotein surface.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 November 2018

Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 November 2018

High prevalence of familial defective apolipoprotein B-100 in Switzerland.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 November 2018

Dysbetalipoproteinemia in a kindred with hypobetalipoproteinemia due to mutations in the genes for ApoB (ApoB-70.5) and ApoE (ApoE2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 November 2018

Screening of hemoglobinopathies and molecular analysis of beta-thalassemia in Central Tunisia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284125

28 November 2018

Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Low Density Lipoprotein Receptor Prevents Secretion of Dense ApoB100-containing Lipoproteins from the Liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ezetimibe; more than a low density lipoprotein cholesterol lowering drug? An update after 4 years

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Down-regulation of cholesterol biosynthesis in sitosterolemia: diminished activities of acetoacetyl-CoA thiolase, 3-hydroxy-3-methylglutaryl-CoA synthase, reductase, squalene synthase, and 7-dehydrocholesterol delta7-reductase in liver and mononucle

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygous familial hypobetalipoproteinemia. Increased LDL catabolism in hypobetalipoproteinemia due to a truncated apolipoprotein B species, apo B-87Padova

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A splice mutation in a Syrian autosomal recessive hypercholesterolemia family causes a two-nucleotide deletion of mRNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial defective apolipoprotein B-100 in Slovakia: are differences in prevalence of familial defective apolipoprotein B-100 explained by ethnicity?

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sterol transporter adenosine triphosphate-binding cassette transporter G8, gallstones, and biliary cancer in 62,000 individuals from the general population

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mechanism of membrane neutral lipid acquisition by the microsomal triglyceride transfer protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A cross-species comparison of the apolipoprotein B domain that binds to the LDL receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The lipid-lowering effect of ezetimibe in pure vegetarians

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial defective apolipoprotein B-100: a lesson from homozygous and heterozygous patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metabolism of apolipoprotein B-100 in a kindred with familial hypobetalipoproteinemia without a truncated form of apoB

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Apolipoprotein E participates in the regulation of very low density lipoprotein-triglyceride secretion by the liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of cholesterol biosynthesis in sitosterolemia: effects of lovastatin, cholestyramine, and dietary sterol restriction

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

B cell antigen receptor-induced Rac1 activation and Rac1-dependent spreading are impaired in transitional immature B cells due to levels of membrane cholesterol

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lipid metabolism in abetalipoproteinemia: a study of cholesterol absorption and sterol balance in two patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypobetalipoproteinemia associated with apo B-48.4, a truncated protein only 14 amino acids longer than apo B-48

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Serum plant sterols and cholesterol precursors reflect cholesterol absorption and synthesis in volunteers of a randomly selected male population

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specificity of Lipid Incorporation Is Determined by Sequences in the N-Terminal 37 of ApoB†

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Apoprotein B-100 production is decreased in subjects heterozygous for truncations of apoprotein B

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypocholesterolemia in chronic anemias with increased erythropoietic activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Apolipoprotein E-1Harrisburg: a new variant of apolipoprotein E dominantly associated with type III hyperlipoproteinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inverse relationship between plasma cholestanol concentrations and bile acid synthesis in sitosterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of polydispersed colloids characterised by light scattering and electron microscopy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of an LDLR-RAP complex reveals a general mode for ligand recognition by lipoprotein receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Siblings with normal LDL receptor activity and severe hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Modulation of apolipoprotein E structure by domain interaction: differences in lipid-bound and lipid-free forms

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Blood dolichols in a patient with abetalipoproteinaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The distribution of squalene and non-cholesterol sterols in lipoproteins in type 2 diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypobetalipoproteinemia with an apparently recessive inheritance due to a “de novo” mutation of apolipoprotein B

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vivo metabolism of apolipoproteins A-I and E in patients with abetalipoproteinemia: implications for the roles of apolipoproteins B and E in HDL metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The sterol transporting heterodimer ABCG5/ABCG8 requires bile salts to mediate cholesterol efflux

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of apolipoprotein E variants on lipolysis of very low density lipoproteins by heparan sulphate proteoglycan-bound lipoprotein lipase

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Apolipoprotein E1-Hammersmith (Lys146-->Asn;Arg147-->Trp), due to a dinucleotide substitution, is associated with early manifestation of dominant type III hyperlipoproteinaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

AP-1 and retromer play opposite roles in the trafficking of sortilin between the Golgi apparatus and the lysosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fast lipoprotein chromatography: new method of analysis for plasma lipoproteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cholesterol turnover and metabolism in two patients with abetalipoproteinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/21862702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1194/JLR.R017855

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21862702%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

2 references

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21862702%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

2 references

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21862702%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

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