Monogenic Hypocholesterolaemic Lipid Disorders and Apolipoprotein B Metabolism

No abstract is available for this paper.

• Publication year

  2005

• Venue

  Critical reviews in clinical laboratory sciences

• Publication date

  2005-01-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1080/10408360500295113PMID 16390683
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• [Familial hypobetalipoproteinemia].

  2007cited by this paper
• Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL.

  2005cited by this paper
• Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.

  2005cited by this paper
• Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9

  2005cited by this paper
• Hepatic and Cardiovascular Consequences of Familial Hypobetalipoproteinemia

  2005cited by this paper
• Reduced intestinal fat absorptive capacity but enhanced susceptibility to diet-induced fatty liver in mice heterozygous for ApoB38.9 truncation.

  2005cited by this paper
• Absence of fatty liver in familial hypobetalipoproteinemia linked to chromosome 3p21.

  2005cited by this paper
• High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent

  2005cited by this paper
• Liver dysfunction and steatosis in familial hypobetalipoproteinemia.

  2005cited by this paper
• Assembly of lipoprotein particles containing apolipoprotein-B: structural model for the nascent lipoprotein particle.

  2005cited by this paper
• Pediatric gallstone disease in familial hypobetalipoproteinemia.

  2005cited by this paper
• Human Placenta Secretes Apolipoprotein B-100-containing Lipoproteins*

  2004cited by this paper
• Fatty liver in familial hypobetalipoproteinemia: roles of the APOB defects, intra-abdominal adipose tissue, and insulin sensitivity.

  2004cited by this paper
• Apolipoprotein B-48: comparison of fasting concentrations measured in normolipidaemic individuals using SDS-PAGE, immunoblotting and ELISA.

  2004cited by this paper
• Overexpression of Human Diacylglycerol Acyltransferase 1, Acyl-CoA:Cholesterol Acyltransferase 1, or Acyl-CoA:Cholesterol Acyltransferase 2 Stimulates Secretion of Apolipoprotein B-containing Lipoproteins in McA-RH7777 Cells*

  2004cited by this paper
• A role for palmitoylation in the quality control, assembly and secretion of apolipoprotein B.

  2004cited by this paper
• Lipoprotein(a): an elusive cardiovascular risk factor.

  2004cited by this paper
• The Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds., 8th ed., McGraw-Hill, New-York, 2001, 7012 p., $550.00)

  2004cited by this paper
• Lipid peroxidation and oxidant stress regulate hepatic apolipoprotein B degradation and VLDL production.

  2004cited by this paper
• Hepatic secretion of apoB-100 is impaired in hypobetalipoproteinemic mice with an apoB-38.9-specifying allele Published, JLR Papers in Press, September 16, 2003. DOI 10.1194/jlr.M300275-JLR200

  2004cited by this paper
• The low density lipoprotein receptor prevents secretion of dense apoB100-containing lipoproteins from the liver.

  2004cited by this paper
• Amino acid sequences within the 1 domain of human apolipoprotein B can mediate rapid intracellular degradation

  2004cited by this paper
• The very low-density lipoprotein (VLDL) receptor: characterization and functions as a peripheral lipoprotein receptor.

  2004cited by this paper
• Overexpression of the endoplasmic reticulum 60 protein ER-60 downregulates apoB100 secretion by inducing its intracellular degradation via a nonproteasomal pathway: evidence for an ER-60-mediated and pCMB-sensitive intracellular degradative pathway.

  2004cited by this paper
• Translational control of apolipoprotein B mRNA: regulation via cis elements in the 5' and 3' untranslated regions.

  2004cited by this paper
• Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B.

  2004cited by this paper
• Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

  2003cited by this paper
• Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis.

  2003cited by this paper
• Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

  2003cited by this paper
• Regulation of human apolipoprotein B gene expression at multiple levels.

  2003cited by this paper
• Overexpression of the Tumor Autocrine Motility Factor Receptor Gp78, a Ubiquitin Protein Ligase, Results in Increased Ubiquitinylation and Decreased Secretion of Apolipoprotein B100 in HepG2 Cells*

  2003cited by this paper
• The Conversion of ApoB100 Low Density Lipoprotein/High Density Lipoprotein Particles to ApoB100 Very Low Density Lipoproteins in Response to Oleic Acid Occurs in the Endoplasmic Reticulum and Not in the Golgi in McA RH7777 Cells*

  2003cited by this paper
• Identification of the Lipoprotein Initiating Domain of Apolipoprotein B*

  2003cited by this paper
• Amino Terminal 38.9% of Apolipoprotein B-100 Is Sufficient to Support Cholesterol-Rich Lipoprotein Production and Atherosclerosis

  2003cited by this paper
• A Novel Nontruncating APOB Gene Mutation, R463W, Causes Familial Hypobetalipoproteinemia*

  2003cited by this paper
• Founder mutation in the BRCA1 gene in Malay breast cancer patients from Singapore

  2003cited by this paper
• Assembly and Secretion of Very Low Density Lipoproteins Containing Apolipoprotein B48 in Transfected McA-RH7777 Cells

  2003cited by this paper
• Microsomal triglyceride transfer protein and its role in apoB-lipoprotein assembly Published, JLR Papers in Press, September 16, 2002. DOI 10.1194/jlr.R200014-JLR200

  2003cited by this paper
• Molecular variation at the apolipoprotein B gene locus in relation to lipids and cardiovascular disease: a systematic meta-analysis

  2003cited by this paper
• Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia

  2003cited by this paper
• Familial hypobetalipoproteinemia Published, JLR Papers in Press, March 16, 2003. DOI 10.1194/jlr.R300002-JLR200

  2003cited by this paper
• Hypobetalipoproteinemic Mice with a Targeted Apolipoprotein (Apo) B-27.6-specifying Mutation

  2002cited by this paper
• Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds.

  2002cited by this paper
• Killing the messenger: new insights into nonsense-mediated mRNA decay.

  2002cited by this paper
• Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation

  2002cited by this paper
• C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme.

  2002cited by this paper
• Intracellular Assembly of Very Low Density Lipoproteins Containing Apolipoprotein B100 in Rat Hepatoma McA-RH7777 Cells*

  2002cited by this paper
• Activities of overt and latent diacylglycerol acyltransferases (DGATs I and II) in liver microsomes of ob/ob mice

  2002cited by this paper
• Subcellular Distributuon of Mitochondrial Carnitine Palmitoyltransferase I in Rat Liver

  2002cited by this paper
• Endoplasmic reticulum localization of the low density lipoprotein receptor mediates presecretory degradation of apolipoprotein B

  2002cited by this paper
• Apolipoprotein B Metabolism: Tracer Kinetics, Models, and Metabolic Studies

  2002cited by this paper
• The N-terminal 1000 residues of apolipoprotein B associate with microsomal triglyceride transfer protein to create a lipid transfer pocket required for lipoprotein assembly.

  2002cited by this paper
• Microsomal Triacylglycerol Transfer Protein Is Required for Lumenal Accretion of Triacylglycerol Not Associated with ApoB, as Well as for ApoB Lipidation*

  2002cited by this paper
• Hepatic Fatty Acid Synthesis Is Suppressed in Mice With Fatty Livers Due to Targeted Apolipoprotein B38.9 Mutation

  2002cited by this paper
• The Late Addition of Core Lipids to Nascent Apolipoprotein B100, Resulting in the Assembly and Secretion of Triglyceride-rich Lipoproteins, Is Independent of Both Microsomal Triglyceride Transfer Protein Activity and New Triglyceride Synthesis*

  2002cited by this paper
• Lipoprotein production by the heart: a novel pathway of triglyceride export from cardiomyocytes

  2002cited by this paper
• Identification of the Proteoglycan Binding Site in Apolipoprotein B48*

  2002cited by this paper
• Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia

  2002cited by this paper
• Microsomal Triglyceride Transfer Protein Binding and Lipid Transfer Activities Are Independent of Each Other, but Both Are Required for Secretion of Apolipoprotein B Lipoproteins from Liver Cells*

  2001cited by this paper
• Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene.

  2001cited by this paper
• Donor splice-site mutation (210+1G_C) in the ApoB gene causes a very low level of ApoB-100 and LDL cholesterol.

  2001cited by this paper
• Co-translational Interactions of Apoprotein B with the Ribosome and Translocon during Lipoprotein Assembly or Targeting to the Proteasome*

  2001cited by this paper
• Identification of a Critical Lysine Residue in Apolipoprotein B-100 That Mediates Noncovalent Interaction with Apolipoprotein(a)*

  2001cited by this paper
• Monogenic dyslipidemias: window on determinants of plasma lipoprotein metabolism.

  2001cited by this paper
• Novel Role for RNA-binding Protein CUGBP2 in Mammalian RNA Editing

  2001cited by this paper
• Structure of apolipoprotein B-100 in low density lipoproteins.

  2001cited by this paper
• Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients.

  2001cited by this paper
• Apoprotein B Degradation Is Promoted by the Molecular Chaperones hsp90 and hsp70*

  2001cited by this paper
• The Molecular Mechanism for the Genetic Disorder Familial Defective Apolipoprotein B100*

  2001cited by this paper
• The Triple Threat to Nascent Apolipoprotein B

  2001cited by this paper
• Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipo-proteinaemia patients

  2001cited by this paper
• The role of the LDL receptor in apolipoprotein B secretion.

  2000cited by this paper
• The role of the microsomal triglygeride transfer protein in abetalipoproteinemia.

  2000cited by this paper
• 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*

  2000cited by this paper
• Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22.

  2000cited by this paper
• An AU-Rich Sequence Element (UUUN[A/U]U) Downstream of the Edited C in Apolipoprotein B mRNA Is a High-Affinity Binding Site for Apobec-1: Binding of Apobec-1 to This Motif in the 3′ Untranslated Region of c-myc Increases mRNA Stability

  2000cited by this paper
• Purification and Molecular Cloning of a Novel Essential Component of the Apolipoprotein B mRNA Editing Enzyme-Complex*

  2000cited by this paper
• Molecular Cloning of Apobec-1 Complementation Factor, a Novel RNA-Binding Protein Involved in the Editing of Apolipoprotein B mRNA

  2000cited by this paper
• Decreased secretion of ApoB follows inhibition of ApoB-MTP binding by a novel antagonist.

  2000cited by this paper
• Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.

  2000cited by this paper
• A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5).

  2000cited by this paper
• Studies on Degradative Mechanisms Mediating Post-translational Fragmentation of Apolipoprotein B and the Generation of the 70-kDa Fragment*

  1999cited by this paper
• Differential regulation of apolipoprotein B secretion from HepG2 cells by two HMG-CoA reductase inhibitors, atorvastatin and simvastatin.

  1999cited by this paper
• ApoB100 secretion from HepG2 cells is decreased by the ACAT inhibitor CI-1011: an effect associated with enhanced intracellular degradation of ApoB.

  1999cited by this paper
• N-terminal domain of apolipoprotein B has structural homology to lipovitellin and microsomal triglyceride transfer protein: a "lipid pocket" model for self-assembly of apob-containing lipoprotein particles.

  1999cited by this paper
• Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia.

  1999cited by this paper
• Acyl-coenzyme A:cholesteryl acyltransferase 2.

  1999cited by this paper
• Truncated apo B-70.5-containing lipoproteins bind to megalin but not the LDL receptor.

  1999cited by this paper
• Evidence that carnitine palmitoyltransferase I (CPT I) is expressed in microsomes and peroxisomes of rat liver

  1999cited by this paper
• The structure of vitellogenin provides a molecular model for the assembly and secretion of atherogenic lipoproteins.

  1999cited by this paper
• The assembly and secretion of apolipoprotein B-containing lipoproteins.

  1999cited by this paper
• Analysis of the role of microsomal triglyceride transfer protein in the liver of tissue-specific knockout mice.

  1999cited by this paper
• Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene.

  1999cited by this paper
• Apolipoprotein B in the rough endoplasmic reticulum: translation, translocation and the initiation of lipoprotein assembly.

  1999cited by this paper
• Subcellular distribution of mitochondrial carnitine palmitoyltransferase I in rat liver. Evidence for a distinctive N-terminal structure of the microsomal but not the peroxisomal enzyme.

  1999cited by this paper
• Apolipoprotein E Participates in the Regulation of Very Low Density Lipoprotein-Triglyceride Secretion by the Liver*

  1999cited by this paper
• Known mutations of apoB account for only a small minority of hypobetalipoproteinemia.

  1999cited by this paper
• Frequency of ApoB and ApoE gene mutations as causes of hypobetalipoproteinemia in the framingham offspring population.

  1998cited by this paper
• Identification of the low density lipoprotein receptor-binding site in apolipoprotein B100 and the modulation of its binding activity by the carboxyl terminus in familial defective apo-B100.

  1998cited by this paper
• Hypobetalipoproteinemia associated with apo B-48.4, a truncated protein only 14 amino acids longer than apo B-48.

  1998cited by this paper

• Diagnosis and prognosis prediction of gastric cancer by high-performance serum lipidome fingerprints

  2024influential citation
• Metformin attenuates high-carbohydrate diet-induced redox imbalance, inflammation, and mitochondrial dysfunction in Megalobrama amblycephala

  2024cites this paper
• Carotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients.

  2023cites this paper
• Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal

  2023cites this paper
• Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review

  2023cites this paper
• Molecular study of Familial Dyslipidaemias by Next Generation Sequencing

  2022cites this paper
• Lipid Metabolic-Related Signature CYP19A1 is a Potential Biomarker for Prognosis and Immune Cell Infiltration in Gastric Cancer

  2022cites this paper
• The genetics of monogenic intestinal epithelial disorders

  2022cites this paper
• Monogenic and polygenic causes of low and extremely low LDL-C levels in patients referred to specialty lipid clinics: Genetics of low LDL-C.

  2021cites this paper
• Lipids Responsible for Intestinal or Hepatic Disorder

  2021influential citation
• The Effect of the PCSK9 Inhibitor Evolocumab on Aldosterone Secretion among High Cardiovascular Risk Patients: A Pilot Study

  2021cites this paper
• Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families

  2021cites this paper
• PRAP1 is a novel lipid-binding protein that promotes lipid absorption by facilitating MTTP-mediated lipid transport

  2020cites this paper
• Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement.

  2020cites this paper
• APOB Gene

  2020cites this paper
• Genetic Disorders of Lipoprotein Metabolism

  2020cites this paper
• Rare Diseases Related with Lipoprotein Metabolism.

  2020cites this paper
• Lipid Transfer in Lipoprotein Metabolism and Cardiovascular Disease

  2020cites this paper
• The crystal structure of human microsomal triglyceride transfer protein

  2019cites this paper
• TEMD DİSLİPİDEMİ TANI ve TEDAVİ KILAVUZU

  2018cites this paper
• Dysrégulations de la production et de la clairance des lipoprotéines riches en triglycérides

  2018cites this paper
• Single, short in‐del, and copy number variations detection in monogenic dyslipidemia using a next‐generation sequencing strategy

  2018cites this paper
• (Pro)renin Receptor Inhibition Reprograms Hepatic Lipid Metabolism and Protects Mice From Diet-Induced Obesity and Hepatosteatosis

  2018cites this paper
• Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.

  2017cites this paper
• Clinical and biochemical characteristics of individuals with low cholesterol syndromes : a comparison between Familial Hypobetalipoproteinemia ( FHBL 1 ) and Familial combined hypolipidemia ( FHBL 2 )

  2017cites this paper
• Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels

  2017cites this paper
• Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts

  2016cites this paper
• Hypolipodemias in children

  2016cites this paper
• 304637/R2 1 Emerging Science Review Full title: Contemporary aspects of the biology and therapeutic regulation of the microsomal triglyceride transfer protein Short title: Hooper, MTP inhibition

  2016cites this paper
• Clinicopathological Phenotype of Autosomal Recessive Cholesterol Deficiency in Holstein Cattle

  2016influential citation
• Update on the molecular biology of dyslipidemias.

  2016cites this paper
• Contemporary Aspects of the Biology and Therapeutic Regulation of the Microsomal Triglyceride Transfer Protein

  2015cites this paper
• Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia.

  2015cites this paper
• The effect of ezetimibe-statin combination on steroid hormone production in men with coronary artery disease and low cholesterol levels

  2015cites this paper
• Up-Regulation Mttp and Apob Gene Expression in Rat Liver is Related to Post-Lipectomy Hypertriglyceridemia

  2015cites this paper
• Genetic Abetalipoproteinaemia and Hypobetalipoproteinaemia

  2015cites this paper
• Novel missense MTTP gene mutations causing abetalipoproteinemia.

  2014cites this paper
• Update on Primary Hypobetalipoproteinemia

  2014cites this paper
• Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.

  2014cites this paper
• The Effect of Aggressive Rosuvastatin Treatment on Steroid Hormone Production in Men with Coronary Artery Disease

  2014cites this paper
• Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management

  2014cites this paper
• Non‐alcoholic fatty liver disease: the role of nuclear receptors and circadian rhythmicity

  2014cites this paper
• Familial Low-Cholesterol Syndromes or Hypobetalipoproteinemias

  2014cites this paper
• Hepatic steatosis and fibrosis despite metabolic differences in congenital hypo-cholesterolemia due to homozygous MTTP and APOB mutations

  2014cites this paper
• Molecular Genetics of Hypobetalipoproteinaemia and Abetalipoproteinaemia

  2013cites this paper
• Molecular cloning, expression, and hormonal regulation of the chicken microsomal triglyceride transfer protein.

  2013cites this paper
• Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene

  2013cites this paper
• Non-alcoholic steatohepatitis-related cirrhosis in a patient with APOB L343V familial hypobetalipoproteinaemia.

  2013cites this paper
• Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis[S]

  2013cites this paper
• Lipoprotein and Lipid Metabolism

  2013cites this paper
• Current Phase II proprotein convertase subtilisin/kexin 9 inhibitor therapies for dyslipidemia

  2013cites this paper
• LDL Cholesterol Goals in High-Risk Patients: How Low Do We Go and How Do We Get There?

  2013influential citation
• Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.

  2013influential citation
• The Lipid Droplet as a Potential Therapeutic Target in NAFLD

  2013cites this paper
• Anti-PCSK9 therapies for the treatment of hypercholesterolemia

  2013cites this paper
• Recent developments in the genetics of LDL deficiency

  2013cites this paper
• Clinical utility gene card for: Familial Hypobetalipoproteinaemia (APOB)

  2012cites this paper
• Clinical utility gene card for: Abetalipoproteinaemia

  2012cites this paper
• Gene Polymorphism and Coronary Heart Disease

  2012cites this paper
• Knee pain: An unanticipated finding related to a rare genetic disorder—Abetalipoproteinemia

  2012cites this paper
• Chronic adrenal failure and hypergonadotropic hypogonadism in a patient with abetalipoproteinemia.

  2012cites this paper
• Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization.

  2012cites this paper
• Mipomersen, an antisense apolipoprotein B synthesis inhibitor

  2011influential citation
• A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia.

  2011influential citation
• Intestinal lymphatic transport for drug delivery

  2011cites this paper
• Genetic determinants of hepatic steatosis in man

  2011cites this paper
• Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum.

  2011cites this paper
• Novel Mutation in the Apob Gene (Apo B-15.56): A Case Report

  2010cites this paper
• Sort1, encoded by the cardiovascular risk locus 1p13.3, is a regulator of hepatic lipoprotein export.

  2010cites this paper
• Molecular Pathology of Hemoglobin and Erythrocyte Membrane Disorders

  2010cites this paper
• Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.

  2010cites this paper
• Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation.

  2010cites this paper
• Apolipoprotein B-mediated control of Staphylococcus aureus virulence

  2010cites this paper
• Relación entre tipo y cantidad de carbohidratos dietarios con el perfil lipídico y ApoB100 en adultos

  2010cites this paper
• Understanding the molecular mechanisms behind lipid homeostasis: the role of apoE and hepatic ACAT 2 in atherogenesis

  2009cites this paper
• Future challenges for microsomal transport protein inhibitors.

  2009cites this paper
• Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.

  2009cites this paper
• Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia.

  2009cites this paper
• Hypobetalipoproteinaemia secondary to chronic hepatitis C virus infection in a patient with familial hypercholesterolaemia

  2009cites this paper
• PCSK9 Dominant Negative Mutant Results in Increased LDL Catabolic Rate and Familial Hypobetalipoproteinemia

  2009cites this paper
• Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases

  2009cites this paper
• The involvement of INSIGs, DGAT1 and APOB in human lipid metabolism

  2008cites this paper
• Postprandial hyperlipidemia: Cardiovascular implications and treatment options

  2008cites this paper
• Disorder of Red Blood Cells: Anemias

  2008cites this paper
• Common and rare gene variants affecting plasma LDL cholesterol.

  2008cites this paper
• Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum.

  2008influential citation
• Ethnic Differences in the Frequency of the Cardioprotective C679X PCSK9 Mutation in a West African Population

  2008cites this paper
• Familial hypobetalipoproteinemia in a Turkish family with hereditary spastic paraplegia.

  2008cites this paper
• Assembly and Secretion of Atherogenic Lipoproteins

  2008cites this paper
• Missense Mutations in APOB within the βα1 Domain of Human APOB-100 Result in Impaired Secretion of ApoB and ApoB-containing Lipoproteins in Familial Hypobetalipoproteinemia*

  2007cites this paper
• [Familial hypobetalipoproteinemia].

  2007cites this paper
• CGI-58 facilitates the mobilization of cytoplasmic triglyceride for lipoprotein secretion in hepatoma cellss⃞s⃞ The online version of this article (available at http://www.jlr.org) contains supplementary data in the form of 2 figures. Published, JLR Papers in Press, July 30, 2007.

  2007cites this paper
• Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia

  2007cites this paper
• A Novel Loss of Function Mutation of PCSK9 Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol

  2007cites this paper
• Heritability and genetics of lipid metabolism

  2007cites this paper
• Human cholesterol metabolism and therapeutic molecules

  2007cites this paper
• Postprandial lipoprotein metabolism in familial hypobetalipoproteinemia.

  2007cites this paper
• [Familial hypobetalipoproteinemia].

  2007cites this paper
• MTP inhibition as a treatment for dyslipidaemias: time to deliver or empty promises?

  2007cites this paper
• Molecular diagnosis of hypobetalipoproteinemia: an ENID review.

  2007influential citation