LDLR

Summary

Gene Symbol: LDLR
Description: low density lipoprotein receptor
Alias: FHC, LDLCQ2, LDL receptor, low-density lipoprotein receptor, low-density lipoprotein receptor class A domain-containing protein 3
Species: human

Top Publications

  1. ncbi Sex-dependent association of a common low-density lipoprotein receptor polymorphism with RNA splicing efficiency in the brain and Alzheimer's disease
    Fanggeng Zou
    Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Hum Mol Genet 17:929-35. 2008
  2. ncbi A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol
    Haiyan Zhu
    Department of Physiology and Sanders Brown Center on Aging, 800 S Limestone Street, University of Kentucky, Lexington, KY 40536 0230, USA
    Hum Mol Genet 16:1765-72. 2007
  3. ncbi Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment
    Kara N Maxwell
    Laboratory of Biochemical Genetics and Metabolism, The Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    Proc Natl Acad Sci U S A 102:2069-74. 2005
  4. ncbi Low-density lipoprotein receptor genotype and response to pravastatin in children with familial hypercholesterolemia: substudy of an intima-media thickness trial
    Kristel C M C Koeijvoets
    Department of Internal Medicine and Vascular Medicine, Erasmus Medical Center, Rotterdam, The Netherlands
    Circulation 112:3168-73. 2005
  5. ncbi Genetic study evaluating LDLR polymorphisms and Alzheimer's disease
    R Lamsa
    Clinical Department, Unit of Neurology, Brain Research Unit, Clinical Research Center, Mediteknia, University of Kuopio, Finland
    Neurobiol Aging 29:848-55. 2008
  6. ncbi Functional interaction between APOE4 and LDL receptor isoforms in Alzheimer's disease
    D Cheng
    Institute of Molecular Medicine and Genetics, Medical College of Georgia, Augusta, GA 30912, USA
    J Med Genet 42:129-31. 2005
  7. ncbi Genetic association of low density lipoprotein receptor and Alzheimer's disease
    Rangaraj K Gopalraj
    Department of Physiology, University of Kentucky, Lexington, KY 40536 0230, USA
    Neurobiol Aging 26:1-7. 2005
  8. ncbi Polymorphisms of the apolipoprotein E gene regulatory region and of the LDL receptor gene in late-onset Alzheimer's disease in relation to the plasma lipidic pattern
    R Scacchi
    CNR Center of Evolutionary Genetics, Department of Genetics and Molecular Biology, University La Sapienza, Rome, Italy
    Dement Geriatr Cogn Disord 12:63-8. 2001
  9. ncbi Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations
    M Chmara
    Department of Biology and Genetics, Medical University of Gdansk, Debinki 1, 80 210 Gdansk, Poland
    J Appl Genet 51:95-106. 2010
  10. ncbi Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations
    K Widhalm
    Department of Pediatrics, University of Vienna, Vienna, Austria
    J Inherit Metab Dis 30:239-47. 2007

Research Grants

  1. Alternative Splicing in Regulation of Cholesterol Synthesis and Uptake
    Marisa Wong Medina; Fiscal Year: 2010
  2. NUCLEAR RECEPTOR SIGNALING PATHWAYS IN ATHEROGENESIS
    PETER J TONTONOZ; Fiscal Year: 2010
  3. LRP structure and function
    Peter G W Gettins; Fiscal Year: 2011
  4. METABOLISM OF INTRAVENOUS LIPID EMULSIONS
    Richard Deckelbaum; Fiscal Year: 2007
  5. Regulation of Apolipoprotein B Secretion
    ALAN ATTIE; Fiscal Year: 2006
  6. Regulation of Apolipoprotein B Secretion
    ALAN ATTIE; Fiscal Year: 2003
  7. EFFECT OF APOLIPOPROTEIN STRUCTURAL ADAPTABILITY
    ROBERT O apos MARA RYAN; Fiscal Year: 2010
  8. Functions of Lipoprotein Receptors in Alzheimer Disease
    G Rebeck; Fiscal Year: 2005
  9. Regulation of factor VIII Levels and Activity by Members of LDL Receptor Family
    Dudley Strickland; Fiscal Year: 2009
  10. Regulation of factor VIII Levels and Activity by Members of LDL Receptor Family
    DUDLEY K contact STRICKLAND; Fiscal Year: 2010

Detail Information

Publications212 found, 100 shown here

  1. ncbi Sex-dependent association of a common low-density lipoprotein receptor polymorphism with RNA splicing efficiency in the brain and Alzheimer's disease
    Fanggeng Zou
    Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Hum Mol Genet 17:929-35. 2008
    ..Recently, we identified a SNP, rs688, as modulating the splicing efficiency of low-density lipoprotein receptor (LDLR) exon 12 in female human liver and in minigene-transfected HepG2 cells...
  2. ncbi A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol
    Haiyan Zhu
    Department of Physiology and Sanders Brown Center on Aging, 800 S Limestone Street, University of Kentucky, Lexington, KY 40536 0230, USA
    Hum Mol Genet 16:1765-72. 2007
    ..Since mutations in low-density lipoprotein receptor (LDLR) are a primary cause of familial hypercholesterolemia, we evaluated whether LDLR SNPs may alter splicing efficiency ..
  3. ncbi Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment
    Kara N Maxwell
    Laboratory of Biochemical Genetics and Metabolism, The Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    Proc Natl Acad Sci U S A 102:2069-74. 2005
    ..leads to increased total and low-density lipoprotein (LDL) cholesterol levels because of a decrease in hepatic LDL receptor (LDLR) protein with normal mRNA levels...
  4. ncbi Low-density lipoprotein receptor genotype and response to pravastatin in children with familial hypercholesterolemia: substudy of an intima-media thickness trial
    Kristel C M C Koeijvoets
    Department of Internal Medicine and Vascular Medicine, Erasmus Medical Center, Rotterdam, The Netherlands
    Circulation 112:3168-73. 2005
    ..Whether the type of LDL receptor mutation predicts the response to statin treatment is not yet established...
  5. ncbi Genetic study evaluating LDLR polymorphisms and Alzheimer's disease
    R Lamsa
    Clinical Department, Unit of Neurology, Brain Research Unit, Clinical Research Center, Mediteknia, University of Kuopio, Finland
    Neurobiol Aging 29:848-55. 2008
    ..The specific risk haplotype GTT was associated with an increased level of tau and ptau in both men and women. Our findings suggest that LDLR gene may be associated with AD risk and its CSF biomarkers, especially in women.
  6. ncbi Functional interaction between APOE4 and LDL receptor isoforms in Alzheimer's disease
    D Cheng
    Institute of Molecular Medicine and Genetics, Medical College of Georgia, Augusta, GA 30912, USA
    J Med Genet 42:129-31. 2005
    Multiple genes have been provisionally associated with Alzheimer's disease, including the coding polymorphisms in exons 8 and 13 in the low density lipoprotein receptor gene (LDLR), situated on chromosome 19p13.2.
  7. ncbi Genetic association of low density lipoprotein receptor and Alzheimer's disease
    Rangaraj K Gopalraj
    Department of Physiology, University of Kentucky, Lexington, KY 40536 0230, USA
    Neurobiol Aging 26:1-7. 2005
    The low density lipoprotein receptor (LDLR) is an attractive candidate gene for genetic association with Alzheimer's disease (AD) because: (i) the LDLR is an apolipoprotein E (apoE) receptor, alleles of which have been associated with AD, ..
  8. ncbi Polymorphisms of the apolipoprotein E gene regulatory region and of the LDL receptor gene in late-onset Alzheimer's disease in relation to the plasma lipidic pattern
    R Scacchi
    CNR Center of Evolutionary Genetics, Department of Genetics and Molecular Biology, University La Sapienza, Rome, Italy
    Dement Geriatr Cogn Disord 12:63-8. 2001
    ..We examined these two polymorphisms, as well as the MspI polymorphism in the LDL receptor gene, in a series of elderly patients with late-onset sporadic AD and in an age-matched control group but ..
  9. ncbi Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations
    M Chmara
    Department of Biology and Genetics, Medical University of Gdansk, Debinki 1, 80 210 Gdansk, Poland
    J Appl Genet 51:95-106. 2010
    ..hypercholesterolemia (ADH) is caused by mutations in the genes coding for the low-density lipoprotein receptor (LDLR), apolipoprotein B-100 (APOB), or proprotein convertase subtilisin/kexin type 9 (PCSK9)...
  10. ncbi Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations
    K Widhalm
    Department of Pediatrics, University of Vienna, Vienna, Austria
    J Inherit Metab Dis 30:239-47. 2007
    ....
  11. ncbi Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia
    A Taylor
    Regional Molecular Genetics Laboratory, Great Ormond Street Hospital for Children, London WC1N 3JH, UK
    Clin Genet 76:69-75. 2009
    ..in patients with autosomal dominant hypercholesterolaemia is a mutation of the low-density lipoprotein receptor (LDLR) gene...
  12. ncbi Two novel mutations 685del 1 and D129G in the low-density lipoprotein receptor gene in a compound heterozygote Chinese family with familial hypercholesterolemia
    Kang Chen
    Department of Endocrinology, Chinese PLA General Hospital, Beijing, PR China
    Metabolism 56:636-40. 2007
    ..DNA analysis of the other family members showed that the 2 mutations should be respectively located in different alleles of the proband. Both of the 2 mutations have not been reported previously...
  13. ncbi Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia
    Faina M Zakharova
    Department of Molecular Genetics, Institute of Experimental Medicine, St Petersburg, Russia
    BMC Med Genet 6:6. 2005
    ..Despite thirteen different mutations of the LDL receptor gene were reported from Russia prior to 2003, the whole spectrum of disease-causing gene alterations in this ..
  14. ncbi Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia
    Felix Eduardo R Punzalan
    Lipid Research Unit, Department of Medicine, University of the Philippines Philippine General Hospital UP PGH, Taft Avenue, Manila 1000, Philippines
    J Atheroscler Thromb 12:276-83. 2005
    Familial Hypercholesterolemia (FH) is an autosomal dominant disease resulting from mutations of the LDL (LDLR) receptor gene leading to a diminished catabolism and elevated level of LDL cholesterol (LDL-C)...
  15. ncbi Exploration of the relationship between phlegm-dampness constitution and polymorphism of low density lipoprotein receptor genes Pvu II and Ava II
    Jing Zhou
    Department of Internal Cardiology, Yueyang Hospital of Integrative Chinese and Western Medicine, Shanghai University of TCM, Shanghai, 200437, China
    Chin J Integr Med 13:170-4. 2007
    To explore the polymorphism of low density lipoprotein receptor (LDL-R) genes Pvu II and Ava II in a population with phlegm-dampness constitution (PDC).
  16. ncbi Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations
    M Bourbon
    Unidade de Investigação Cardiovascular, Instituto Nacional de Saude Dr Ricardo Jorge, Lisboa, Portugal
    J Med Genet 46:352-7. 2009
    Familial hypercholesterolemia (FH) results from defective low-density lipoprotein receptor (LDLR) activity, mainly due to LDLR gene defects...
  17. ncbi Effect of Ava II and NcoI polymorphisms at the low density lipoprotein receptor gene on plasma lipid levels in a group of Thai subjects
    K U Pongrapeeporn
    Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
    J Med Assoc Thai 83:S74-80. 2000
    The contribution of common genetic variations at the LDL receptor gene in determining interindividual differences in plasma lipid levels in the general population has been observed in several studies...
  18. ncbi Polymorphic DNA haplotypes at the human low-density lipoprotein receptor gene locus in Koreans
    J J Chae
    School of Biological Sciences, Seoul National University, Korea
    Hum Biol 73:105-19. 2001
    ..Owing to the high degree of linkage disequilibrium over the entire locus, not all RFLPs were informative. We rank each RFLP according to its informativeness and present a strategy for the optimal selection of RFLPs for pedigree analysis...
  19. ncbi [The relationship of low density lipoprotein receptor gene polymorphism and hyperlipidemia]
    A Liu
    Department of Epidemiology, Beijing Medical University, China
    Zhonghua Liu Xing Bing Xue Za Zhi 22:30-3. 2001
    To study the relationship of low density lipoprotein receptor gene polymorphism and hyperlipidemia in the population with essential hypertension.
  20. ncbi Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population
    Yasuko Miyake
    Department of Etiology and Pathophysiology, National Cardiovascular Center Research Institute, 5 7 1 Fujishirodai, Suita, Osaka 565 8565, Japan
    Atherosclerosis 203:153-60. 2009
    We investigated the LDLR gene mutations in 205 unrelated Japanese FH (familial hypercholesterolemia) heterozygotes to see if there is a prevalence of common mutations in the Japanese population...
  21. ncbi Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia
    R Thiart
    MRC Cape Heart Group, Division of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa
    J Med Genet 37:514-9. 2000
    ..resulted in the identification of seven different mutations in the coding region of the low density lipoprotein (LDLR) gene in 10 of the patients analysed...
  22. ncbi [Interaction of ApoE and LDL-R gene polymorphisms and alcohol drinking and smoking on coronary heart disease]
    Chun Hong Wang
    Zhongnan Hospital, School of Public Health, Wuhan University, Wuhan 430071, China
    Zhonghua Yi Xue Za Zhi 84:554-8. 2004
    To investigate the association between the ApoE and LDLR-R gene loci on coronary heart disease (CHD) and their interaction with alcohol drinking and smoking in Hans of Chinese.
  23. ncbi Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review
    Melissa A Austin
    Institute for Public Health Genetics and Department of Epidemiology, School of Public Health and Community Medicine, University of Washington, 1959 NE Pacific Avenue, Seattle, WA 98195, USA
    Am J Epidemiol 160:407-20. 2004
    ..FH can result from mutations in the low density lipoprotein receptor gene (LDLR), the apolipoprotein B-100 gene (APOB), and the recently identified proprotein convertase ..
  24. ncbi [Low density lipoprotein receptor gene mutations in patients with clinical diagnosis of familial hypercholesterolemia.]
    A N Meshkov
    Russian Cardiology Research Complex ul Tretiya Cherepkovskaya, 15a, 121552 Moscow, Russia
    Kardiologiia 44:58-61. 2004
    b>Low density lipoprotein receptor (LDLR) gene mutations cause familial hypercholesterolemia which is associated with elevated risk of ischemic heart disease.
  25. ncbi Nef induces multiple genes involved in cholesterol synthesis and uptake in human immunodeficiency virus type 1-infected T cells
    Angélique B van 't Wout
    Department of Microbiology, University of Washington School of Medicine, Seattle, 98195, USA
    J Virol 79:10053-8. 2005
    ....
  26. ncbi The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population
    Dorte Damgaard
    Department of Medicine and Cardiology, Aarhus Sygehus, Aarhus University Hospital, Tage Hansens Gade 2, DK 8000 Aarhus C, Denmark
    Atherosclerosis 180:155-60. 2005
    The genes encoding the LDL receptor and apoB were screened for mutations associated with familial hypercholesterolemia (FH) in 408 patients referred to the Lipid Clinic in 1995-2003...
  27. ncbi Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA
    Øystein L Holla
    Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet, N 0027 Oslo, Norway
    Clin Chim Acta 356:164-71. 2005
    ..In this study we have compared multiplex ligation-dependent probe amplification (MLPA) and long-range PCR to detect large deletions/duplications in the LDL receptor gene.
  28. ncbi The low density lipoprotein receptor regulates the level of central nervous system human and murine apolipoprotein E but does not modify amyloid plaque pathology in PDAPP mice
    John D Fryer
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Biol Chem 280:25754-9. 2005
    ..The primary apoE receptor that regulates levels of apoE in the brain is unknown. We report that the low density lipoprotein receptor (LDLR) regulates the cellular uptake and central nervous system levels of astrocyte-derived apoE...
  29. ncbi Potential genetic markers of sporadic Alzheimer's dementia
    W Retz
    Psychiatric Department, University of the Saarland, Hamburg Saar, Germany
    Psychiatr Genet 11:115-22. 2001
    ..Concerning the polymorphism within exon 8 of the LDL receptor (alanin/threonin), there was also a predominance of the allele carrying threonin in the index group, which ..
  30. ncbi Detection of large deletions in the LDL receptor gene with quantitative PCR methods
    Dorte Damgaard
    Department of Medicine and Cardiology, Aarhus Sygehus, Aarhus University Hospital, Tage Hansens Gade 2, 8000 Aarhus C, Denmark
    BMC Med Genet 6:15. 2005
    ..FH) is a common genetic disease and at the molecular level most often due to mutations in the LDL receptor gene...
  31. ncbi Distribution and function of AP-1 clathrin adaptor complexes in polarized epithelial cells
    H FOLSCH
    Department of Cell Biology and Ludwig Institute for Cancer Research, Yale University School of Medicine, New Haven, Connecticut 06520, USA
    J Cell Biol 152:595-606. 2001
    ..is sufficient to couple basolateral plasma membrane proteins, such as a low-density lipoprotein receptor (LDLR), to the AP-1B complex and to clathrin...
  32. ncbi Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia
    Fernando Civeira
    Hospital Universitario Miguel Servet, Instituto Aragones de Ciencias de la Salud, Zaragoza, Spain
    Am J Cardiol 102:1187-93, 1193.e1. 2008
    ..Genetic testing for low-density lipoprotein (LDL) receptor (LDLR) and apolipoprotein B (APOB) gene defects is the preferable diagnostic method, but the best phenotype indication to ..
  33. ncbi The low density lipoprotein receptor. Identification of amino acids in cytoplasmic domain required for rapid endocytosis
    C G Davis
    J Biol Chem 262:4075-82. 1987
    The 50-residue cytoplasmic domain of the low density lipoprotein receptor (amino acids 790-839) directs the receptor to coated pits, thereby facilitating rapid endocytosis of bound low density lipoprotein...
  34. ncbi Deletion of clustered O-linked carbohydrates does not impair function of low density lipoprotein receptor in transfected fibroblasts
    C G Davis
    J Biol Chem 261:2828-38. 1986
    ..144 base pairs (48 amino acids) that encode this serine- and threonine-rich region from the cDNA for the human LDL receptor. Upon transfection into receptor-deficient hamster fibroblasts, this mutated cDNA encoded a shortened receptor ..
  35. ncbi Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia
    M A Lehrman
    Cell 48:827-35. 1987
    A defective LDL receptor gene in a child with familial hypercholesterolemia produces a receptor precursor that is 50,000 daltons larger than normal (apparent Mr 170,000 vs. 120,000)...
  36. ncbi Domain map of the LDL receptor: sequence homology with the epidermal growth factor precursor
    D W Russell
    Cell 37:577-85. 1984
    ..The extracytoplasmic domain of the LDL receptor contains a region that is 38% identical with a 96 amino acid sequence in the precursor to mouse epidermal ..
  37. ncbi Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
    H H Hobbs
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235
    Hum Mutat 1:445-66. 1992
    ..To date, 71 mutations in the LDL receptor gene have been characterized at a molecular level...
  38. ncbi Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia
    H H Hobbs
    J Biol Chem 261:13114-20. 1986
    ..We describe here a mutant allele at the LDL receptor locus in which one of the seven repeats has been deleted...
  39. ncbi Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation
    Da Wei Zhang
    Department of Molecular Genetics, The Donald W Reynolds Cardiovascular Clinical Research Center, Howard Hughes Institute, University of Texas Southwestern Medical Center, Dallas 75390, USA
    J Biol Chem 282:18602-12. 2007
    ..convertase subtilisin/kexin type 9 (PCSK9) promotes degradation of hepatic low density lipoprotein receptors (LDLR), the major route of clearance of circulating cholesterol...
  40. ncbi Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects
    Peter H Nissen
    Department of Clinical Biochemistry, Aarhus Sygehus, Aarhus University Hospital, Aarhus, Denmark
    BMC Med Genet 7:55. 2006
    ..disease that is most frequently caused by mutations in the gene encoding the receptor for low density lipoproteins (LDLR)...
  41. ncbi Concordant association of lipid gene variation with a combined HDL/LDL-cholesterol phenotype in two European populations
    Anja Bauerfeind
    Department of Bioinformatics, Max Delbruck Center for Molecular Medicine, Berlin, Germany
    Hum Hered 61:123-31. 2006
    ..This comparative study demonstrates significant contribution of candidate genes to the variation of a complex cholesterol phenotype, measured in two general populations by a gene-based approach...
  42. ncbi Membership in genetic groups predicts Alzheimer disease
    Elizabeth H Corder
    Center for Demographic Studies, Duke University, Durham, North Carolina, USA
    Rejuvenation Res 9:89-93. 2006
    ..latent classification statistical model; that is, grade-of-membership analysis, and genotypes for APOE, APOCI, LDLr, cystatin C, and cathepsin D (180 cases, 120 controls)...
  43. ncbi Polymorphisms associated with cholesterol and risk of cardiovascular events
    Sekar Kathiresan
    Cardiovascular Disease Prevention Center, Cardiology Division, Massachusetts General Hospital, MA 02114, USA
    N Engl J Med 358:1240-9. 2008
    ..We tested the hypothesis that a combination of such SNPs contributes to the risk of cardiovascular disease...
  44. ncbi Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort
    Caroline F Bunn
    Molecular Pathology, Canterbury Health Laboratories, Christchurch, New Zealand
    Hum Mutat 19:311. 2002
    ..FH may be caused by many different mutations in the low density lipoprotein receptor (LDLR) gene, about 700 mutations have been described, most of which occur rarely and often only in ..
  45. ncbi LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias
    B Gorski
    Department of Genetics and Pathology, Pomeranian Medical Academy, Szczecin, Poland
    Hum Genet 102:562-5. 1998
    ..Additionally, one large (approximately 1-kb) LDL-R gene deletion between exons 6 and 9 was identified. In five families, the B-3500 mutation within the ApoB-100 gene was revealed...
  46. ncbi Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients
    V Kuhrova
    Research Institute of Child Health, Department of Biochemical and Molecular Genetics, Brno, Czech Republic
    Hum Mutat 18:253. 2001
    ..Molecular searching in the promoter region and coding sequence of the low density lipoprotein receptor (LDLR) gene in 130 patients from 68 unrelated families resulted in the identification of 37 sequence ..
  47. ncbi Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH)
    S Langlois
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Am J Hum Genet 43:60-8. 1988
    ..Total genomic DNA was analyzed by Southern blot hybridization to probes encompassing exons 1-18 of the LDL receptor gene...
  48. ncbi Common low-density lipoprotein receptor mutations in the French Canadian population
    E Leitersdorf
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235
    J Clin Invest 85:1014-23. 1990
    ..Previous studies demonstrated that a single mutation at the LDL receptor locus, the so-called French Canadian deletion, makes up 60% of the mutant genes responsible for FH in the ..
  49. ncbi Uptake of HIV-1 tat protein mediated by low-density lipoprotein receptor-related protein disrupts the neuronal metabolic balance of the receptor ligands
    Y Liu
    Department of Microbiology and Immunology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    Nat Med 6:1380-7. 2000
    ..These results indicate that HIV-1 Tat may mediate HIV-1-induced neuropathology through a pathway involving disruption of the metabolic balance of LRP ligands and direct activation of neuronal genes...
  50. ncbi Polymorphisms of the low-density lipoprotein receptor gene in Brazilian individuals with heterozygous familial hypercholesterolemia
    L A Salazar
    Departamento de Analises Clinicas e Toxicologicas, Faculdade de Ciencias Farmaceuticas, Universidade de Sao Paulo, Sao Paulo, SP, Brasil
    Braz J Med Biol Res 33:1301-4. 2000
    ..The disease is caused by several different mutations in the LDL receptor gene...
  51. ncbi Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia
    Livia Pisciotta
    Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, I 16132 Genoa, Italy
    Atherosclerosis 186:433-40. 2006
    Patients homozygous or compound heterozygous for LDLR mutations or double heterozygous for LDLR and apo B R3500Q mutation have higher LDL-C levels, more extensive xanthomatosis and more severe premature coronary disease (pCAD) than simple ..
  52. ncbi [Relationship between the Nco I, Ava II polymorphism of low density lipoprotein receptor gene and atherosclerotic cerebral infarction]
    Yang Guo
    Department of Neurology, the Second Clinical College, China Medical University, Shenyang, Liaoning, 110004 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 19:209-12. 2002
    OBJECTIVE To investigate the relationship between the Nco I, Ava II polymorphism of low density lipoprotein receptor (LDL-R) gene in patients with the occurrence of atherosclerotic cerebral infarction (ACI) among the Han nationality in ..
  53. ncbi Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density
    Efrat Arnheim
    Gaucher Clinic, Shaare Zedek Medical Center, One Bazak Road, PO Box 3235, Jerusalem, Israel
    Rheumatol Int 28:873-7. 2008
    ..01) in patients. Haplotypes of bone-specific candidate genes associated with BMD may predict severity of these features in Gaucher disease...
  54. ncbi Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana
    E Pereira
    Hospital Hermanos Ameijeiras, La Habana, Cuba
    Hum Genet 96:319-22. 1995
    ..The Arg3500Gln mutation of apolipoprotein B-100 was not found. Identification of low density lipoprotein receptor (LDLR) gene haplotypes segregating with FH guided the characterisation of three point mutations by ..
  55. ncbi Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia
    David Cunningham
    Pfizer Inc, Eastern Point Road, Groton, Connecticut 06430, USA
    Nat Struct Mol Biol 14:413-9. 2007
    ..Biosensor studies show that PCSK9 binds the extracellular domain of LDL receptor with K(d) = 170 nM at the neutral pH of plasma, but with a K(d) as low as 1 nM at the acidic pH of endosomes...
  56. ncbi The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA
    T Yamamoto
    Cell 39:27-38. 1984
    The nucleotide sequence of a cloned 5.3 kilobase cDNA for the human low density lipoprotein receptor revealed five domains in the 839 amino acid protein: 322 NH2-terminal amino acids, extremely rich in disulfide-bonded cysteine residues (..
  57. ncbi Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes
    V Lindgren
    Proc Natl Acad Sci U S A 82:8567-71. 1985
    ..By in situ hybridization we have regionally mapped the LDL receptor gene, LDLR, to the short arm of chromosome 19 in bands p13.1-p13.3...
  58. ncbi The Delta>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in Quebec
    L R Simard
    Centre de Recherche, Hôpital Sainte Justine and Université de Montréal, McGill University, 3175 Cote Sainte Catherine, Montreal, Quebec, Canada H3T 1C5
    Clin Genet 65:202-8. 2004
    ..has autosomal dominant familial hypercholesterolemia due to mutations in the low-density lipoprotein receptor (LDLR) gene. Screening for these mutations is hampered by their large number, except in founder populations...
  59. ncbi Genetic variation in lectin-like oxidized low-density lipoprotein receptor 1 (LOX1) gene and the risk of coronary artery disease
    Qi Chen
    Department of Human Genetics, University of Pittsburgh, PA 15261, USA
    Circulation 107:3146-51. 2003
    We examined the association of 3 polymorphisms in the lectin-like oxidized LDL receptor-1 (LOX1 or OLR1) gene with coronary artery disease in the Women's Ischemia Syndrome Evaluation (WISE) study population.
  60. ncbi Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia
    M Mandelshtam
    Institute for Experimental Medicine, St Petersburg, Russia
    Hum Mutat 12:255-8. 1998
    We used polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis to detect LDL receptor gene defects in the St. Petersburg population. We have found a deltaG197 mutation in several patients of Jewish origin...
  61. ncbi Genetic basis of familial dyslipidemia and hypertension: 15-year results from Utah
    R R Williams
    Department of Internal Medicine, University of Utah Cardiovascular Genetics Research Clinic, Salt Lake City 84108
    Am J Hypertens 6:319S-327S. 1993
    ..In addition, important gene-gene interactions (LDL receptor with apo E2) and gene-environment interactions (kallikrein with potassium intake) were found...
  62. ncbi Effects of probucol on atherosclerosis of apoE-deficient or LDL receptor-deficient mice
    T Yoshikawa
    Department of Metabolic Diseases, Faculty of Medicine, University of Tokyo, Tokyo, Japan
    Horm Metab Res 33:472-9. 2001
    ..levels in both apolipoprotein E (apoE)-deficient mice fed a western diet and in low-density lipoprotein receptor (LDLR)-deficient mice fed a Paigen diet by 60 % and 30 % to 60 %, respectively...
  63. ncbi Generation of intracellular signals by low density lipoprotein is independent of the classical LDL receptor
    A Sachinidis
    Medical Policlinic, , Germany
    Am J Hypertens 4:274-9. 1991
    ..in the absence or in the presence of 15 micrograms/mL monoclonal antibodies against the classical low density lipoprotein receptor or in the presence of apolipoprotein B-100...
  64. ncbi Can antihypertensive drugs reduce atherosclerosis and its clinical complications?
    A V Chobanian
    Boston University School of Medicine, MA 02118
    Am J Hypertens 7:119S-125S. 1994
    ..lesions and their action may be species specific and, at least in part, dependent on the integrity of the LDL receptor. The action of alpha 1-blockers and of a combined calcium antagonist/alpha 1-blocker in hypercholesterolemic ..
  65. ncbi Plasma lipoprotein (a) concentrations in hypothyroid, euthyroid and hyperthyroid subjects
    C Erem
    Department of Internal Medicine, Karadeniz Technical University Faculty of Medicine, Turkey
    Acta Cardiol 54:77-81. 1999
    ..Thyroid hormones regulate lipid metabolism through various mechanisms, but a key role is played by the LDL receptor pathway. Thyroid hormone influence on lipoprotein (a) [Lp(a)] metabolism is known...
  66. ncbi Low density lipoprotein receptors mediate intracellular calcium signals in microalbuminuric hypertensives
    R L Fong
    Department of Internal Medicine, King/Drew Medical Center, Los Angeles, CA 90059, USA
    Am J Hypertens 11:113-6. 1998
    ..that hypertensive patients with early glomerular capillary injury display exaggerated influx of [Ca2+]i after LDL receptor stimulation...
  67. ncbi Screening and identification of familial defective apolipoprotein B-100 in clinical samples by capillary gel electrophoresis
    R Lehmann
    , Innere Medizin Abteilung IV, Germany
    J Chromatogr A 744:187-94. 1996
    ..It is characterized by a decreased affinity of low density lipoprotein (LDL) for the LDL receptor, as a consequence of a substitution of adenine by guanine in exon 26 of the apolipoprotein B-100 gene, coding ..
  68. ncbi The relationship between lipoprotein(a) and low density lipoprotein receptors during the treatment of hyperthyroidism
    H Hayashi
    Department of Internal Medicine, Yokohama Red Cross Hospital, Japan
    Horm Metab Res 28:384-7. 1996
    ..receptor pathway is involved in the catabolism of plasma lipoprotein (a) [Lp(a)], serum lipids, Lp(a), and LDL receptor activity were measured in seven patients with hyperthyroidism before and after methimazole treatment given ..
  69. ncbi Lipoprotein (a) in thyroid dysfunction before and after treatment
    S Spandrio
    Clinica Medica, , Italy
    Horm Metab Res 25:586-9. 1993
    ..Thyroid hormones regulate lipid metabolism through various mechanisms, but a key role is played by the LDL receptor pathway...
  70. ncbi Binding of apoB-containing lipoproteins from unfractionated human blood sera to immobilized LDL receptor
    V V Yakushkin
    Institute of Experimental Cardiology, Russian Cardiology Complex, Moscow, 121552, Russia
    Biochemistry (Mosc) 63:1164-71. 1998
    ..from unfractionated human blood sera to the immobilized bovine receptor of low density lipoproteins (LDL receptor) was studied. Peroxidase-labeled anti-human apoB antibodies were used to evaluate the lipoprotein binding...
  71. ncbi Liver LDL receptor mRNA expression is decreased in human ApoB/CETP double transgenic mice and is regulated by diet as well as the cytokine oncostatin M
    J Liu
    Department of Veterans Affairs Medical Center, Boise, Idaho, USA
    Arterioscler Thromb Vasc Biol 17:2948-54. 1997
    We have investigated liver LDL receptor mRNA expression in nontransgenic, human cholesteryl ester transfer protein (CETP) transgenic, and human apolipoprotein (Apo) B/CETP double transgenic mice fed a normal chow diet and a high fat, high ..
  72. ncbi Truncated apo B-70.5-containing lipoproteins bind to megalin but not the LDL receptor
    Z Chen
    Division of Atherosclerosis, Lipid Research and Nutrition, Department of Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Clin Invest 103:1419-30. 1999
    Apo B-100 of LDL can bind to both the LDL receptor and megalin, but the molecular interactions of apo B-100 with these 2 receptors are not completely understood...
  73. ncbi Increasing hepatic cholesterol 7alpha-hydroxylase reduces plasma cholesterol concentrations in normocholesterolemic and hypercholesterolemic rabbits
    G Xu
    Medical Service, Veterans Affairs Medical Center, East Orange, NJ, USA
    Hepatology 24:882-7. 1996
    ..Plasma and liver cholesterol concentrations were 13 times and 50% greater, respectively, hepatic LDL receptor-mediated binding was 26% less, and cholesterol 7alpha-hydroxylase activity and mRNA levels were 62% and 86% ..
  74. ncbi A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene
    D Wang
    Department of Pathology, Medical Department of Peking University, Beijing, PR China
    J Hum Genet 46:152-4. 2001
    ..FH) is an autosomal dominant disorder caused by mutations in the low-density lipoprotein receptor (LDLR) gene; it is characterized by a high concentration of LDL, which frequently gives rise to tendon xanthomas and ..
  75. ncbi Rapid initial removal of chylomicron remnants by the mouse liver does not require hepatically localized apolipoprotein E
    K C Yu
    Research Institute, Palo Alto Medical Foundation, Palo Alto, CA 94301, USA
    J Lipid Res 41:1715-27. 2000
    Apolipoprotein E (apoE) is a ligand for the low density lipoprotein receptor (LDLR) and the low density lipoprotein receptor-related protein (LRP)...
  76. ncbi The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia
    K E Heath
    Centre for Genetics of Cardiovascular Disorders, Department of Medicine, The Rayne Institute, University College London Medical School, UK
    Atherosclerosis 143:41-54. 1999
    ..the influence of gender, apolipoprotein (apo) E genotype and the type of molecular defect in the LDL-receptor (LDLR) gene on the reduction of plasma LDL-cholesterol levels to treatment with a HMG-CoA reductase inhibitor (..
  77. ncbi Cholesterol efflux via ATP-binding cassette transporter A1 (ABCA1) and cholesterol uptake via the LDL receptor influences cholesterol-induced impairment of beta cell function in mice
    J K Kruit
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, 950 West 28th Ave, Vancouver, BC, Canada V5Z 4H4
    Diabetologia 53:1110-9. 2010
    ..In this study, we aimed to determine the role of the LDL receptor (LDLr) in islet cholesterol uptake and to assess the contributions of cholesterol uptake compared with efflux ..
  78. ncbi Acceleration of uptake of LDL but not chylomicrons or chylomicron remnants by cells that secrete apoE and hepatic lipase
    S Y Choi
    Research Institute, Palo Alto Medical Foundation, CA 94301
    J Lipid Res 35:848-59. 1994
    ApoE is a ligand for the low density lipoprotein (LDL) receptor as well as for the LDL receptor-related protein (LRP). The enzyme hepatic lipase (HL) may also affect the uptake of lipoproteins by modifying their composition...
  79. ncbi Induction of fatal inflammation in LDL receptor and ApoA-I double-knockout mice fed dietary fat and cholesterol
    Manal Zabalawi
    Department of Pathology, Wake Forest University Health Sciences, Medical Center Boulevard, Winston Salem, NC 27157, USA
    Am J Pathol 163:1201-13. 2003
    Atherogenic response to dietary fat and cholesterol challenge was evaluated in mice lacking both the LDL receptor (LDLr(-/-)) and apoA-I (apoA-I(-/-)) gene, LDLr(-/-)/apoA-I(-/-) or double-knockout mice...
  80. ncbi Hepatic tissue sterol regulatory element binding protein 2 and low-density lipoprotein receptor in nephrotic syndrome
    Choong H Kim
    Division of Nephrology and Hypertension, University of California, Irvine, Orange, CA 92868, USA
    Metabolism 56:1377-82. 2007
    ..The LDL receptor deficiency in NS is accompanied by normal hepatic LDL receptor messenger RNA (mRNA) abundance...
  81. ncbi Atherosclerosis, vascular remodeling, and impairment of endothelium-dependent relaxation in genetically altered hyperlipidemic mice
    S Bonthu
    Department of Internal Medicine, University of Iowa College of Medicine, Iowa City 52242 1081, USA
    Arterioscler Thromb Vasc Biol 17:2333-40. 1997
    ..in two genetic models of hypercholesterolemia: apolipoprotein E (apoE)-knockout mice and combined apoE/LDL receptor-double-knockout mice...
  82. ncbi Intracellular localization and metabolism of chylomicron remnants in the livers of low density lipoprotein receptor-deficient mice and apoE-deficient mice. Evidence for slow metabolism via an alternative apoE-dependent pathway
    B C Mortimer
    Department of Physiology, University of Western Australia, Nedlands, Australia
    J Biol Chem 270:28767-76. 1995
    The metabolism of chylomicron remnants in mice deficient in low density lipoprotein receptor (LDLr) or apolipoprotein E (apoE) was compared with that of control C57BL/6J mice...
  83. ncbi Dietary fat saturation effects on low-density-lipoprotein concentrations and metabolism in various animal models
    R J Nicolosi
    Department of Health and Clinical Sciences, University of Massachusetts Lowell 01854, USA
    Am J Clin Nutr 65:1617S-1627S. 1997
    ..associated with consumption of saturated vegetable oils and fats is largely explained by a decrease in hepatic LDL receptor activity and an increase in the LDL-C production rate...
  84. ncbi Low-density lipoprotein receptor-mediated delivery of a lipophilic daunorubicin derivative to B16 tumours in mice using apolipoprotein E-enriched liposomes
    A J Versluis
    Division of Biopharmaceutics, Leiden Amsterdam Center for Drug Research, University of Leiden, The Netherlands
    Br J Cancer 78:1607-14. 1998
    Many tumours express relatively high levels of low-density lipoprotein (LDL) receptors on their membranes. The LDL receptor is, therefore, an attractive target for the selective delivery of antineoplastic drugs to tumour cells...
  85. ncbi Reversal of hypercholesterolemia in low density lipoprotein receptor knockout mice by adenovirus-mediated gene transfer of the very low density lipoprotein receptor
    K Kobayashi
    Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030, USA
    J Biol Chem 271:6852-60. 1996
    ..used the technique of adenovirus-mediated gene transfer to study the in vivo function of the very low density lipoprotein receptor (VLDLR) in low density lipoprotein receptor (LDLR) knockout mice...
  86. ncbi Apolipoprotein E2 reduces the low density lipoprotein level in transgenic mice by impairing lipoprotein lipase-mediated lipolysis of triglyceride-rich lipoproteins
    Y Huang
    Gladstone Institute of Cardiovascular Disease, University of California, San Francisco, California 94141 9100, USA
    J Biol Chem 273:17483-90. 1998
    ..Mice expressing apoE2 also have low LDL levels. To evaluate the possible role of the LDL receptor in the cholesterol-lowering effect of apoE2, we bred transgenic mice expressing low levels of apoE2 with LDL ..
  87. ncbi Reversal of hyperlipidaemia in apolipoprotein C1 transgenic mice by adenovirus-mediated gene delivery of the low-density-lipoprotein receptor, but not by the very-low-density-lipoprotein receptor
    M C Jong
    TNO Prevention and Health, Gaubius Laboratory, 2301 CE Leiden, The Netherlands
    Biochem J 338:281-7. 1999
    ..In the absence of at least the low-density-lipoprotein receptor (LDLR), it was shown that APOC1 overexpression in transgenic mice inhibited the hepatic uptake of VLDL via the LDLR-..
  88. ncbi Western-type diets induce insulin resistance and hyperinsulinemia in LDL receptor-deficient mice but do not increase aortic atherosclerosis compared with normoinsulinemic mice in which similar plasma cholesterol levels are achieved by a fructose-rich diet
    S Merat
    Department of Medicine, University of California San Diego, La Jolla 92093 0682, USA
    Arterioscler Thromb Vasc Biol 19:1223-30. 1999
    ..We assumed that fructose-fed LDL receptor-deficient (LDLR-/-) mice might be a model of IR and atherosclerosis because (1) fructose feeding induces ..
  89. ncbi Relative importance of the LDL receptor and scavenger receptor class B in the beta-VLDL-induced uptake and accumulation of cholesteryl esters by peritoneal macrophages
    N Herijgers
    Division of Biopharmaceutics, Leiden Amsterdam Center for Drug Research, Sylvius Laboratories, Leiden University, The Netherlands
    J Lipid Res 41:1163-71. 2000
    ..from control mice and low density lipoprotein (LDL) receptor-deficient mice to elucidate the role of the LDL receptor in this process. The LDL receptor appeared to be of major importance for beta-VLDL metabolism...
  90. ncbi Mouse very low-density lipoprotein receptor (VLDLR): gene structure, tissue-specific expression and dietary and developmental regulation
    O Tiebel
    Department of Cell Biology and Medicine, Baylor College of Medicine, Houston, TX 77030, USA
    Atherosclerosis 145:239-51. 1999
    The very low density lipoprotein receptor (VLDLR) is a multifunctional apolipoprotein (apo) E receptor that shares a common structural feature as well as some ligand specificity to apo E with members of the low density lipoprotein ..
  91. ncbi Hepatic low-density lipoprotein receptor-related protein deficiency in mice increases atherosclerosis independent of plasma cholesterol
    Sonia M S Espirito Santo
    TNO Prevention and Health, Leiden, The Netherlands
    Blood 103:3777-82. 2004
    ..Mice that allow inducible inactivation of hepatic LRP were combined with LDL receptor and APOE double-deficient mice (MX1Cre(+)LRP(flox/flox)LDLR(-/-)APOE(-/-))...
  92. ncbi Cellular catabolism of lipid poor apolipoprotein E via cell surface LDL receptor-related protein
    Masaaki Narita
    Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, St Louis, Missouri 63110, USA
    J Biochem 132:743-9. 2002
    ..the binding of lipoproteins to members of the low density lipoprotein (LDL) receptor family including the LDL receptor and the LDL receptor-related protein (LRP)...
  93. ncbi Efficient transfer of receptor-associated protein (RAP) across the blood-brain barrier
    Weihong Pan
    Pennington Biomedical Research Center, Louisiana State University System, 6400 Perkins Road, Baton Rouge 70808, USA
    J Cell Sci 117:5071-8. 2004
    ..Previous studies have shown that two large members of the LDL receptor family, LDL receptor-related protein 1 (LRP1) and LDL receptor-related protein 2 (LRP2 or megalin), possess the ..
  94. ncbi Hyperlipidemia of ApoE2(Arg(158)-Cys) and ApoE3-Leiden transgenic mice is modulated predominantly by LDL receptor expression
    K W van Dijk
    Department of Human Genetics, Leiden University Medical Center, The Netherlands
    Arterioscler Thromb Vasc Biol 19:2945-51. 1999
    To investigate the relative roles of the LDL receptor- and non-LDL receptor-mediated pathways in the clearance of apolipoprotein E (apoE) variants in vivo, we have generated apoE2(Arg(158)-Cys) (apoE2) and apoE3-Leiden transgenic mice ..
  95. ncbi Effect of bone marrow transplantation on lipoprotein metabolism and atherosclerosis in LDL receptor-knockout mice
    N Herijgers
    Division of Biopharmaceutics, Leiden Amsterdam Center for Drug Research, Sylvius Laboratories, Leiden University, Netherlands
    Arterioscler Thromb Vasc Biol 17:1995-2003. 1997
    The LDL receptor (LDLR) plays an important role in the removal of LDL and its precursors, the intermediate and very low density lipoproteins, from the blood circulation. The receptor is expressed on various cell types...
  96. ncbi Dietary isoflavones reduce plasma cholesterol and atherosclerosis in C57BL/6 mice but not LDL receptor-deficient mice
    E A Kirk
    Department of Medicine and the Nutritional Sciences Program, University of Washington, Seattle, WA 98195, USA
    J Nutr 128:954-9. 1998
    ..C57BL/6 and LDL receptor-deficient (LDLr-null) mice were fed soy protein-based, high fat diets with isoflavones present (IF+, 20...
  97. ncbi A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: application of the CD3/CD28 assay in lymphocytes
    Hayato Tada
    Division of Cardiovascular Medicine, Department of Internal Medicine, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan
    Clin Chim Acta 400:42-7. 2009
    The objective of this study was to develop a new and simple method for measuring low-density lipoprotein receptor (LDLR) activity using peripheral lymphocytes enabling us to clinically diagnose familial hypercholesterolemia (FH) and ..
  98. ncbi Structural peculiarities of the binding of very low density lipoproteins and low density lipoproteins to the LDL receptor in hypertriglyceridemia: role of apolipoprotein E
    A D Dergunov
    National Research Center for Preventive Medicine, 10 Petroverigsky street, 101953, Moscow, Russia
    Biochim Biophys Acta 1484:29-40. 2000
    ..The efficiencies of VLDL and LDL binding to the LDL receptor (LDLr) in vitro were compared by solid-phase assay free of steric hindrance observed in cell binding...
  99. ncbi Functional role of lipoprotein receptors in Alzheimer's disease
    Sebastian Jaeger
    Institute of Physiological Chemistry and Pathobiochemistry, Molecular Neurodegeneration, Johannes Gutenberg University Mainz, Mainz, Germany
    Curr Alzheimer Res 5:15-25. 2008
    The LDL receptor gene family constitutes a class of structurally closely related cell surface receptors fulfilling diverse functions in different organs, tissues, and cell types...

Research Grants65

  1. Alternative Splicing in Regulation of Cholesterol Synthesis and Uptake
    Marisa Wong Medina; Fiscal Year: 2010
    ..coenzyme A reductase (HMGCR), the rate-limiting enzyme of cholesterol biosynthesis, and the LDL receptor (LDLR), responsible for uptake of LDL, have been associated with variation in plasma LDL as well as with the ..
  2. NUCLEAR RECEPTOR SIGNALING PATHWAYS IN ATHEROGENESIS
    PETER J TONTONOZ; Fiscal Year: 2010
    ..Finally, we identified a novel mechanism whereby LXR activation regulates cholesterol uptake through the LDL receptor pathway...
  3. LRP structure and function
    Peter G W Gettins; Fiscal Year: 2011
    ..One of the receptors involved in regulating these processes is LRP1, a member of the low density lipoprotein receptor family...
  4. METABOLISM OF INTRAVENOUS LIPID EMULSIONS
    Richard Deckelbaum; Fiscal Year: 2007
    ..away from classical" pathways used for n-6 TGRP clearance (such as those involving intravascular lipolysis, the LDL receptor, and apoprotein E) to "non-classical" metabolic pathways involving cell surface proteoglycans (PG), anchoring ..
  5. Regulation of Apolipoprotein B Secretion
    ALAN ATTIE; Fiscal Year: 2006
    ..Until recently, there has been no direct mechanism for explaining the relationship between loss of the LDL receptor and lipoprotein overproduction. We have identified a novel role for the LDL receptor...
  6. Regulation of Apolipoprotein B Secretion
    ALAN ATTIE; Fiscal Year: 2003
    ..Until recently, there has been no direct mechanism for explaining the relationship between loss of the LDL receptor and lipoprotein overproduction. We have identified a novel role for the LDL receptor...
  7. EFFECT OF APOLIPOPROTEIN STRUCTURAL ADAPTABILITY
    ROBERT O apos MARA RYAN; Fiscal Year: 2010
    ..3) The interaction of apoE with LDL receptor related protein 6 (LRP6) will be studied...
  8. Functions of Lipoprotein Receptors in Alzheimer Disease
    G Rebeck; Fiscal Year: 2005
    ..We found expression of these receptors in subsets of cells in the CNS, focusing our attention primarily on the LDL receptor related protein, LRP...
  9. Regulation of factor VIII Levels and Activity by Members of LDL Receptor Family
    Dudley Strickland; Fiscal Year: 2009
    ..LRP along with the LDL receptor (LDLR) functions in vivo to mediate the hepatic clearance of fVIII...
  10. Regulation of factor VIII Levels and Activity by Members of LDL Receptor Family
    DUDLEY K contact STRICKLAND; Fiscal Year: 2010
    ..LRP along with the LDL receptor (LDLR) functions in vivo to mediate the hepatic clearance of fVIII...
  11. Prevention of high fat diet-induced vascular injury
    Ming Hui Zou; Fiscal Year: 2010
    ..Consistently, genetic deletion of AMPK12 in either ApoE knockout (Apo E-/-) or LDL receptor knockout (LDLr-/-) strain markedly increased 26S proteasome activity, I?B degradation, NF:B transactivation, ..
  12. HEPATITIS C VIRUS IN ETIOLOGY OF WA RHEUMATOID FACTORS
    Vincent Agnello; Fiscal Year: 2001
    ..We have also established that the LDL receptor mediates endocytosis of HCV and other members of the Flaviviridae family and that the apolipoprotein E epsilon2 ..
  13. Sir2 Regulates AMPK and Lipid Metabolism in Diabetes
    Mengwei Zang; Fiscal Year: 2010
    ..I have established in vitro hepatocyte models and in vivo models of type 1 and type 2 diabetic LDL receptor-deficient (LDLR-/-) mice to provide new evidence that 1) polyphenols strongly prevent the inhibition of AMPK, ..
  14. Sir2 Regulates AMPK and Lipid Metabolism in Diabetes
    Mengwei Zang; Fiscal Year: 2010
    ..I have established in vitro hepatocyte models and in vivo models of type 1 and type 2 diabetic LDL receptor-deficient (LDLR-/-) mice to provide new evidence that 1) polyphenols strongly prevent the inhibition of AMPK, ..
  15. Sir2 Regulates AMPK and Lipid Metabolism in Diabetes
    Mengwei Zang; Fiscal Year: 2009
    ..I have established in vitro hepatocyte models and in vivo models of type 1 and type 2 diabetic LDL receptor-deficient (LDLR-/-) mice to provide new evidence that 1) polyphenols strongly prevent the inhibition of AMPK, ..
  16. OVARIAN LDL RECEPTOR AND STAR GENE REGULATION
    HOLLY LAVOIE; Fiscal Year: 2003
    ..Years 1-2): The LDL receptor and StAR promoters will be mapped for putative transcription factors responding to gonadotropins and IGF-I...
  17. Role of Lipoprotein Receptors in Diet-induced Obesity and Diabetes
    David Hui; Fiscal Year: 2007
    The importance of the LDL receptor family proteins in lipid metabolism and protection against cardiovascular and Alzheimer's diseases is well established in the literature...
  18. Role of Lipoprotein Receptors in Diet-induced Obesity and Diabetes
    David Y Hui; Fiscal Year: 2010
    The importance of the LDL receptor family proteins in lipid metabolism and protection against cardiovascular and Alzheimer's diseases is well established in the literature...
  19. MACROPHAGE ACTIVATION AND LIPOPROTEIN METABOLISM
    Maria Lopes Virella; Fiscal Year: 2001
    ..of these cells into foam cells and promotes their activation leading to a paradoxical increase in LDL receptor cell surface expression and to the release of cytokines...