LDLR

Summary

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

Top Publications

  1. pmc Hyperglycemic Ins2AkitaLdlr⁻/⁻ mice show severely elevated lipid levels and increased atherosclerosis: a model of type 1 diabetic macrovascular disease
    Changcheng Zhou
    Laboratory of Biochemical Genetics and Metabolism, Rockefeller University, New York, NY, USA
    J Lipid Res 52:1483-93. 2011
  2. doi 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
  3. pmc An LXR agonist promotes glioblastoma cell death through inhibition of an EGFR/AKT/SREBP-1/LDLR-dependent pathway
    Deliang Guo
    Department of Radiation Oncology, Arthur G James Comprehensive Cancer Center, The Ohio State University Medical School, Columbus, OH, USA
    Cancer Discov 1:442-56. 2011
  4. pmc Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk
    S E Humphries
    J Med Genet 43:943-9. 2006
  5. pmc 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
  6. pmc Antibody-mediated disruption of the interaction between PCSK9 and the low-density lipoprotein receptor
    Christopher J Duff
    Proteolysis Research Group, Institute of Molecular and Cellular Biology, Faculty of Biological Sciences, and Leeds Institute of Genetics, Health and Therapeutics, University of Leeds, Leeds, U K
    Biochem J 419:577-84. 2009
  7. pmc Low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl coenzyme A reductase gene expression in human mononuclear leukocytes is regulated coordinately and parallels gene expression in human liver
    E E Powell
    Department of Biochemistry, University of Queensland, Brisbane, Australia
    J Clin Invest 93:2168-74. 1994
  8. pmc PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment
    Kristian Tveten
    Department of Medical Genetics, Oslo University Hospital Rikshospitalet, Oslo, Norway
    J Lipid Res 54:1560-6. 2013
  9. pmc Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia
    Alyaa Al-Khateeb
    Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia
    BMC Med Genet 12:40. 2011
  10. pmc Proprotein convertase subtilisin/kexin type 9 (PCSK9) can mediate degradation of the low density lipoprotein receptor-related protein 1 (LRP-1)
    Maryssa Canuel
    Laboratory of Biochemical Neuroendocrinology, Clinical Research Institute of Montreal, affiliated to the University of Montreal, Montreal, Quebec, Canada
    PLoS ONE 8:e64145. 2013

Research Grants

  1. Targeting the serine protease PCSK9 via covalent complementarity
    John Chorba; Fiscal Year: 2013
  2. Nutritional and Hormonal Pathways for Reduction of ApoB-lipoproteins
    Li Shin Huang; Fiscal Year: 2013
  3. JOACHIM J HERZ; Fiscal Year: 2016
  4. Sudha B Biddinger; Fiscal Year: 2016
  5. Zahid Ahmad; Fiscal Year: 2016
  6. Angel Baldán; Fiscal Year: 2016
  7. Guojun Bu; Fiscal Year: 2016
  8. Ann Marie Schmidt; Fiscal Year: 2016
  9. Hong Wang; Fiscal Year: 2016
  10. Functions of apoE in cholesterol and triglyceride homeostasis
    Vassilis I Zannis; Fiscal Year: 2010

Detail Information

Publications267 found, 100 shown here

  1. pmc Hyperglycemic Ins2AkitaLdlr⁻/⁻ mice show severely elevated lipid levels and increased atherosclerosis: a model of type 1 diabetic macrovascular disease
    Changcheng Zhou
    Laboratory of Biochemical Genetics and Metabolism, Rockefeller University, New York, NY, USA
    J Lipid Res 52:1483-93. 2011
    ..for studying diabetic macrovascular disease, we have generated type 1 diabetic Akita mice lacking the low density lipoprotein receptor (Ins2(Akita)Ldlr⁻/⁻)...
  2. doi 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...
  3. pmc An LXR agonist promotes glioblastoma cell death through inhibition of an EGFR/AKT/SREBP-1/LDLR-dependent pathway
    Deliang Guo
    Department of Radiation Oncology, Arthur G James Comprehensive Cancer Center, The Ohio State University Medical School, Columbus, OH, USA
    Cancer Discov 1:442-56. 2011
    ..an EGFRvIII-activated, PI3K/SREBP-1-dependent tumor survival pathway through the low-density lipoprotein receptor (LDLR)...
  4. pmc Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk
    S E Humphries
    J Med Genet 43:943-9. 2006
    To determine the relative frequency of mutations in three different genes (low-density lipoprotein receptor (LDLR), APOB, PCSK9), and to examine their effect in development of coronary heart disease (CHD) in patients with clinically ..
  5. pmc 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
    ....
  6. pmc Antibody-mediated disruption of the interaction between PCSK9 and the low-density lipoprotein receptor
    Christopher J Duff
    Proteolysis Research Group, Institute of Molecular and Cellular Biology, Faculty of Biological Sciences, and Leeds Institute of Genetics, Health and Therapeutics, University of Leeds, Leeds, U K
    Biochem J 419:577-84. 2009
    PCSK9 (proprotein convertase subtilisin/kexin type 9) promotes degradation of the LDLR [LDL (low-density lipoprotein) receptor] through an as-yet-undefined mechanism, leading to a reduction in cellular LDLc (LDL-cholesterol) and a ..
  7. pmc Low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl coenzyme A reductase gene expression in human mononuclear leukocytes is regulated coordinately and parallels gene expression in human liver
    E E Powell
    Department of Biochemistry, University of Queensland, Brisbane, Australia
    J Clin Invest 93:2168-74. 1994
    The liver plays a key regulatory role in cholesterol metabolism. Two proteins are central in this role; the LDL receptor and 3-hydroxy-3-methylglutaryl CoA reductase (HMG CoA reductase), the rate-limiting enzyme in cholesterol ..
  8. pmc PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment
    Kristian Tveten
    Department of Medical Genetics, Oslo University Hospital Rikshospitalet, Oslo, Norway
    J Lipid Res 54:1560-6. 2013
    Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the LDL receptor (LDLR) at the cell surface and reroutes the internalized LDLR to intracellular degradation...
  9. pmc Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia
    Alyaa Al-Khateeb
    Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia
    BMC Med Genet 12:40. 2011
    ..The promoter region and exons 2-15 of the LDLR gene were screened by denaturing high-performance liquid chromatography to detect short deletions and nucleotide ..
  10. pmc Proprotein convertase subtilisin/kexin type 9 (PCSK9) can mediate degradation of the low density lipoprotein receptor-related protein 1 (LRP-1)
    Maryssa Canuel
    Laboratory of Biochemical Neuroendocrinology, Clinical Research Institute of Montreal, affiliated to the University of Montreal, Montreal, Quebec, Canada
    PLoS ONE 8:e64145. 2013
    ..is insensitive to PCSK9 in murine B16F1 melanoma cells, PCSK9 is able to induce degradation of the low density lipoprotein receptor-related protein 1 (LRP-1), suggesting distinct targeting mechanisms for these receptors...
  11. doi 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)...
  12. pmc A proprotein convertase subtilisin-like/kexin type 9 (PCSK9) C-terminal domain antibody antigen-binding fragment inhibits PCSK9 internalization and restores low density lipoprotein uptake
    Yan G Ni
    Department of Cardiovascular Diseases, Merck Research Laboratories, Rahway, New Jersey 07065, USA
    J Biol Chem 285:12882-91. 2010
    PCSK9 binds to the low density lipoprotein receptor (LDLR) and leads to LDLR degradation and inhibition of plasma LDL cholesterol clearance...
  13. 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...
  14. 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.
  15. 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, ..
  16. 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...
  17. pmc Site-specific effects of PECAM-1 on atherosclerosis in LDL receptor-deficient mice
    Reema Goel
    Blood Research Institute, BloodCenter of Wisconsin, Milwaukee, WI 53201, USA
    Arterioscler Thromb Vasc Biol 28:1996-2002. 2008
    ..PECAM-1 also inhibits inflammatory responses, on which basis it is predicted to be atheroprotective...
  18. pmc 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...
  19. pmc 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 ..
  20. pmc 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...
  21. 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.
  22. ncbi Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia
    Vassil A Mihaylov
    Department of Chemistry and Biochemistry, Medical University of Sofia, 2 Zdrave Str, Sofia, 1431, Bulgaria
    J Hum Genet 49:173-6. 2004
    ..caused by defects in the receptor-mediated uptake of LDL (low-density lipoproteins) due to mutations in the LDL receptor gene ( LDLR). Mutations underlying FH in Bulgaria are largely unknown...
  23. 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...
  24. 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.
  25. 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)...
  26. pmc Structural requirements for PCSK9-mediated degradation of the low-density lipoprotein receptor
    Da Wei Zhang
    Department of Molecular Genetics, McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390 8591, USA
    Proc Natl Acad Sci U S A 105:13045-50. 2008
    ..is a secreted protein that controls plasma LDL cholesterol levels by posttranslational regulation of the LDL receptor (LDLR)...
  27. doi Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy
    Maria Romano
    CEINGE S C a r l Biotecnologie Avanzate, Napoli, Italy
    Atherosclerosis 210:493-6. 2010
    Autosomal dominant hypercholesterolemias are due to defects in the LDL receptor (LDLR) gene, in the apolipoprotein B-100 gene or in the proprotein convertase subtilisin/kexin type 9 gene...
  28. doi Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients
    Waqas Ahmed
    Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Park Road, Islamabad 45600, Pakistan
    Mol Biol Rep 39:7365-72. 2012
    ..with the autosomal dominant disorder familial hypercholesterolemia (FH) carry novel mutations in the low density lipoprotein receptor (LDLR) that is involved in cholesterol regulation...
  29. 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...
  30. 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)...
  31. ncbi Structure of the LDL receptor extracellular domain at endosomal pH
    Gabby Rudenko
    Department of Biochemistry, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard Y4 206, Dallas, TX 75390, USA
    Science 298:2353-8. 2002
    ..We propose a mechanism for lipoprotein release in the endosome whereby the beta propeller functions as an alternate substrate for the ligand-binding domain, binding in a calcium-dependent way and promoting lipoprotein release...
  32. pmc Infectious hepatitis C virus pseudo-particles containing functional E1-E2 envelope protein complexes
    Birke Bartosch
    Laboratoire de Vectorologie Rétrovirale et Thérapie Génique, Institut National de la Santé et de la Recherche Médicale U412, IFR 128, Ecole Normale Superieure de Lyon, 69364 Lyon Cedex 07, France
    J Exp Med 197:633-42. 2003
    ..Although our results tend to confirm their involvement, they provide evidence that neither LDLr nor CD81 is sufficient to mediate HCV cell entry...
  33. ncbi Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia
    Christopher Jones
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9046, USA
    J Biol Chem 278:29024-30. 2003
    ..As in FH, the rate of clearance of circulating low density lipoprotein (LDL) by the LDL receptor (LDLR) in the liver is markedly reduced in ARH...
  34. ncbi [Association between AvaII exon 13 polymorphism at the LDL receptor gene different and serum lipid levels in normotensives and essential hypertensives in Shanghai]
    Ai Ping Liu
    Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100083, China
    Zhonghua Liu Xing Bing Xue Za Zhi 24:542-6. 2003
    To investigate the AvaII polymorphism of low density lipoprotein receptor gene in both health and essential hypertension populations, and to evaluate the association of AvaII polymorphism with level of blood lipid.
  35. 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.
  36. ncbi 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
    Steve E Humphries
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medical School, Rayne Building, 5 University Street, London WC1E 6JJ, UK
    J Mol Med (Berl) 84:203-14. 2006
    ..245 probands), using single-strand conformation polymorphism of all exons of the low-density lipoprotein receptor (LDLR) gene, 48 different pathogenic mutations were found in 62 probands (25%), while 7 (2...
  37. 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...
  38. 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.
  39. 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
    ....
  40. pmc 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...
  41. doi Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors
    R Alonso
    Lipid Clinic, Fundacion Jimenez Diaz, Madrid, Spain
    Atherosclerosis 200:315-21. 2008
    ....
  42. pmc Genetic variation at the LDL receptor and HMG-CoA reductase gene loci, lipid levels, statin response, and cardiovascular disease incidence in PROSPER
    Eliana Polisecki
    Cardiovascular Research and Lipid Metabolism Laboratories, Friedman School of Nutrition Science and Policy, Tufts University School of Medicine and the Jean Mayer USDA Human Nutrition Research Center at Tufts University, Boston, MA USA
    Atherosclerosis 200:109-14. 2008
    ..to evaluate associations of single nucleotide polymorphisms (SNPs) at the low density lipoprotein (LDL) receptor (LDLR C44857T, minor allele frequency (MAF) 0.26, and A44964G, MAF 0...
  43. doi Annexin A2 is a C-terminal PCSK9-binding protein that regulates endogenous low density lipoprotein receptor levels
    Gaetan Mayer
    Laboratory of Biochemical Neuroendocrinology, Clinical Research Institute of Montreal, Montreal, Quebec H2W 1R7, Canada
    J Biol Chem 283:31791-801. 2008
    The proprotein convertase subtilisin/kexin-type 9 (PCSK9), which promotes degradation of the hepatic low density lipoprotein receptor (LDLR), is now recognized as a major player in plasma cholesterol metabolism...
  44. doi 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...
  45. pmc A locked nucleic acid antisense oligonucleotide (LNA) silences PCSK9 and enhances LDLR expression in vitro and in vivo
    Nidhi Gupta
    Laboratory of Biochemical Neuroendocrinology, Clinical Research Institute of Montreal, Montreal, Quebec, Canada
    PLoS ONE 5:e10682. 2010
    ..PCSK9 accelerates the degradation of hepatic low density lipoprotein receptor (LDLR) and low levels of hepatic PCSK9 activity are associated with reduced levels of circulating LDL-..
  46. doi Association between PCSK9 and LDLR gene polymorphisms with coronary heart disease: case-control study and meta-analysis
    Lina Zhang
    Zhejiang Provincial Key Laboratory of Pathophysiology, School of Medicine, Ningbo University, Ningbo 315211, Zhejiang Province, China
    Clin Biochem 46:727-32. 2013
    To explore the association of rs11206510 (PCSK9 gene) and rs1122608 (LDLR gene) polymorphisms with coronary heart disease (CHD) in Han Chinese.
  47. pmc The LDL receptor gene: a mosaic of exons shared with different proteins
    T C Sudhof
    Science 228:815-22. 1985
    ..The LDL receptor appears to be a mosaic protein built up of exons shared with different proteins, and it therefore belongs to ..
  48. ncbi The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors
    C G Davis
    Cell 45:15-24. 1986
    ..These results support the hypothesis that cytoplasmic domains direct receptors to coated pits, thereby determining the high rate of receptor internalization in animal cells...
  49. 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 ..
  50. ncbi Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR
    Pilar Mozas
    Departamento de Bioquimica y Biologia Molecular y Celular, Universidad de Zaragoza, Spain
    Hum Mutat 24:187. 2004
    Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), an autosomal dominant inherited disorder associated with an increased risk of premature atherosclerosis...
  51. ncbi Low-density lipoprotein receptor structure and folding
    J Gent
    Department of Bio organic Chemistry 1, Utrecht University, Padualaan 8, 3584, CH Utrecht, The Netherlands
    Cell Mol Life Sci 61:2461-70. 2004
    ..The low-density lipoprotein receptor (LDLR) is the prototype of a large family of structurally homologous cell surface receptors, which fold in the ER and ..
  52. pmc LXR regulates cholesterol uptake through Idol-dependent ubiquitination of the LDL receptor
    Noam Zelcer
    Howard Hughes Medical Institute and Department of Pathology and Laboratory Medicine, University of California, Los Angeles UCLA, Los Angeles, CA 90095, USA
    Science 325:100-4. 2009
    ..LXR inhibits the LDL receptor (LDLR) pathway through transcriptional induction of Idol (inducible degrader of the LDLR), an E3 ubiquitin ..
  53. pmc A two-step binding model of PCSK9 interaction with the low density lipoprotein receptor
    Taichi Yamamoto
    Center for Prevention of Obesity, Cardiovascular Disease and Diabetes, Children s Hospital Oakland Research Institute, Oakland, California 94609, USA
    J Biol Chem 286:5464-70. 2011
    ..This multidomain protein interacts with the LDL receptor (LDLR), promoting receptor degradation...
  54. 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...
  55. 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 ..
  56. 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...
  57. 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 (..
  58. 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 ..
  59. pmc Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland
    W K Lee
    Department of Medicine and Therapeutics, Gardiner Institute, Western Infirmary, Glasgow, UK
    J Med Genet 35:573-8. 1998
    ..Our aims were to track the low density lipoprotein receptor (LDLR) gene in individual families with phenotypic FH and to identify and characterise any mutations ..
  60. 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...
  61. 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...
  62. ncbi Disabled-2 colocalizes with the LDLR in clathrin-coated pits and interacts with AP-2
    S M Morris
    Fred Hutchinson Cancer Research Center, Division of Basic Sciences, 1100 Fairview Avenue North, Seattle, WA 98109 1024, USA
    Traffic 2:111-23. 2001
    ..protein that binds to and receives signals from members of the low-density lipoprotein receptor (LDLR) family...
  63. ncbi Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece
    G Miltiadous
    Department of Internal Medicine, Medical School, University of Ioannina, Ioannina, Greece
    Hum Mutat 17:432-3. 2001
    ..Typically, it results from mutations in the low-density lipoprotein receptor (LDLR) gene. So far, over 600 mutations have been reported for the LDLR gene and account for FH...
  64. ncbi Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia
    M S Nauck
    Department of Clinical Chemistry, University Hospital, Freiburg, Germany
    Hum Mutat 18:165-6. 2001
    In order to identify mutations in the low density lipoprotein receptor (LDLR) gene in primary hypercholesterolemia, we screened 100 unrelated German individuals with elevated plasma LDL-C (LDL-C > 4,7 mmol/l) for mutations in the 18 ..
  65. 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 ..
  66. 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 ..
  67. ncbi ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2
    Guocheng He
    McDermott Center for Human Growth and Development, The Howard Hughes Medical Institute, University of Texas Southwestern Medical Center at Dallas, 75290, USA
    J Biol Chem 277:44044-9. 2002
    ..hypercholesterolemia, a disorder caused by defective internalization of low density lipoprotein receptors (LDLR) in the liver...
  68. 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 ..
  69. pmc 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.
  70. pmc 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 ..
  71. 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...
  72. pmc 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...
  73. ncbi Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia
    Diego Tejedor
    Departamento de Bioquimica y Biologia Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain
    Clin Chem 51:1137-44. 2005
    ..Mutations in the LDL receptor (LDLR) gene and the R3500Q mutation in the apolipoprotein B (APOB) gene are known to cause FH, but lack of high-..
  74. 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 ..
  75. 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)...
  76. ncbi Retention of mutant low density lipoprotein receptor in endoplasmic reticulum (ER) leads to ER stress
    Stine Sørensen
    Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet, University Hospital, N 0027 Oslo, Norway
    J Biol Chem 281:468-76. 2006
    ..hypercholesterolemia is an autosomal dominant disease caused by mutations in the gene encoding the low density lipoprotein receptor (LDLR)...
  77. 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...
  78. pmc 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)...
  79. ncbi The low-density lipoprotein receptor plays a role in the infection of primary human hepatocytes by hepatitis C virus
    Sonia Molina
    INSERM, U632, Hepatic Physiopathology, 1919 Route de Mende, 34293 Montpellier Cedex 5, France
    J Hepatol 46:411-9. 2007
    The direct implication of low-density lipoprotein receptor (LDLR) in hepatitis C virus (HCV) infection of human hepatocyte has not been demonstrated. Normal primary human hepatocytes infected by serum HCV were used to document this point.
  80. 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...
  81. 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...
  82. 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...
  83. ncbi The cellular trafficking of the secretory proprotein convertase PCSK9 and its dependence on the LDLR
    Nasha Nassoury
    Laboratory of Biochemical Neuroendocrinology, Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal, Quebec, Canada H2W 1R7
    Traffic 8:718-32. 2007
    ..proprotein convertase subtilisin kexin 9 (PCSK9) to elicit the degradation of the low-density lipoprotein receptor (LDLR) protein...
  84. pmc 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 ..
  85. 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).
  86. ncbi Genetic heterogeneity of autosomal dominant hypercholesterolemia
    M Varret
    INSERM U781, Hopital Necker Enfants Malades, Universite Paris 5 Rene Descartes, Paris, France
    Clin Genet 73:1-13. 2008
    ..More than 1000 mutations in the LDLR gene and 9 in the APOB gene have been implicated...
  87. ncbi Association of polymorphisms of ABCA1 and ROS1 with hypertension in Japanese individuals
    Yoshiji Yamada
    Department of Human Functional Genomics, Life Science Research Center, Mie University, Mie 514 8507, Japan
    Int J Mol Med 21:83-9. 2008
    ..polymorphism of ABCA1, the C-->G (Ser2229Cys) polymorphism of ROS1, the C-->T (Asn591Asn) polymorphism of LDLR, the 13989A-->G (Ile118Val) polymorphism of CYP3A4, the C-->G and A-->C polymorphisms of ADIPOR1, and the -..
  88. doi Development of a universal chemiluminometric genotyping method for high-throughput detection of 7 LDLR gene mutations in Greek population
    Kyriaki Glynou
    Medicon Hellas SA, R and D Department, Gerakas, Greece
    Clin Biochem 41:335-42. 2008
    Familial hypercholesterolemia (FH) is caused by mutations in the LDL receptor (LDLR) gene...
  89. ncbi Analysis of polymorphisms in the 3' untranslated region of the LDL receptor gene and their effect on plasma cholesterol levels and drug response
    Wei Chen
    VA Palo Alto Health Care System, Palo Alto, CA 94304, USA
    Int J Mol Med 21:345-53. 2008
    The proximal section of the 3' untranslated region (3'UTR) of LDL receptor (LDLR) mRNA contains important regulatory sequences that control the messenger stability and mediate the cholesterol-lowering drug berberine (BBR)-induced increase ..
  90. ncbi Functional analysis of low-density lipoprotein receptor in homozygous familial hypercholesterolemia patients with novel 1439 C-->T mutation of low-density lipoprotein receptor gene
    Jie Lin
    Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing, China
    Chin Med J (Engl) 121:776-81. 2008
    ..Until now, limited molecular data concerning FH are available in China. The present study described the clinical profiles and cell biological defects of a Chinese FH kindred with novel LDL-R gene mutation...
  91. doi 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...
  92. doi 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 ..
  93. doi Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients
    L Wang
    Department of Atherosclerosis, Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing Anzhen Hospital, Affiliated of Capital University of Medical Sciences, Beijing 100029, PR China
    Nutr Metab Cardiovasc Dis 19:391-400. 2009
    ..In this article, from four homozygous FH phenotype probands we identified disease causing mutations and analyzed the relationship between genotype and phenotype...
  94. pmc Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
    Sekar Kathiresan
    Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Nat Genet 41:334-41. 2009
    ..six replicated prior observations (9p21, 1p13 near CELSR2-PSRC1-SORT1, 10q11 near CXCL12, 1q41 in MIA3, 19p13 near LDLR and 1p32 near PCSK9)...
  95. pmc Antagonism of secreted PCSK9 increases low density lipoprotein receptor expression in HepG2 cells
    Markey C McNutt
    Departments of Molecular Genetics, Biochemistry, and Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    J Biol Chem 284:10561-70. 2009
    ..receptors (LDLRs) in liver by binding to the epidermal growth factor-like repeat A (EGF-A) domain of the LDLR. It is not known whether PCSK9 causes degradation of LDLRs within the secretory pathway or following secretion and ..
  96. doi Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform
    Rodrigo Alonso
    Lipid Clinic, Fundacion Jimenez Diaz, Madrid, Spain
    Clin Biochem 42:899-903. 2009
    ..This platform includes the use of a DNA micro array, the detection of large gene rearrangements and the complete resequencing of the low-density lipoprotein receptor gene...
  97. doi 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...
  98. doi Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia
    Muhammad Ajmal
    Department of Biosciences, COMSATS Institute of Information Technology, Park Road, Chak Shahzad, Islamabad, 45600, Pakistan
    Mol Biol Rep 37:3869-75. 2010
    ..In order to find the causative mutation in this family, direct sequencing of the low density lipoprotein receptor (LDLR) gene was performed...
  99. doi Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project
    A Taylor
    Great Ormond Street Hospital for Children, London, UK
    Clin Genet 77:572-80. 2010
    ..Six hundred and thirty-five probands from six UK centres were tested for 18 low-density lipoprotein receptor gene (LDLR) mutations, APOB p.Arg3527Gln and PCSK9 p...
  100. doi Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile
    Nicola Martinelli
    Department of Medicine, University of Verona, Verona, Italy
    Blood 116:5688-97. 2010
    ..Low-density lipoprotein receptor (LDLR) has been recently demonstrated to contribute to FVIII clearance from plasma...
  101. doi A novel pathogenic nonsense triple-nucleotide mutation in the low-density lipoprotein receptor gene and its clinical correlation with familial hypercholesterolemia
    Muhammad Ajmal
    COMSATS Institute of Information Technology, Islamabad, Pakistan
    Genet Test Mol Biomarkers 15:601-6. 2011
    ..The aim of this study was to determine the genetic basis of familial hypercholesterolemia in a Pakistani family with a history of myocardial infarction and premature coronary artery disease...

Research Grants82

  1. Targeting the serine protease PCSK9 via covalent complementarity
    John Chorba; Fiscal Year: 2013
    ..test the hypothess that binding of inhibitor to the PCSK9 active site will cause allosteric inhibition of the PCSK9/LDLR interaction. In Aim 3, the role of intracellular and extracelullar PCSK9 to LDL regulation will be evaluated...
  2. Nutritional and Hormonal Pathways for Reduction of ApoB-lipoproteins
    Li Shin Huang; Fiscal Year: 2013
    ..Unlike thyromimetics, we have found that T2 effectively lowers cholesterol in LDL receptor knockout mice...
  3. JOACHIM J HERZ; Fiscal Year: 2016
    ....
  4. Sudha B Biddinger; Fiscal Year: 2016
    ..showed that insulin, in the presence of a high-fat, high-cholesterol diet, produces a five-fold increase in LDL receptor protein which correlates with improved LDL clearance and protection from atherosclerosis (Biddinger et al...
  5. Zahid Ahmad; Fiscal Year: 2016
    ..ADH is genetically heterogeneous and has been associated with variants in at least three genes including LDL receptor (LDLR), apolipoprotein B-100 (APOB), and proprotein convertase subtilisin-like kexin type 9 (PCSK9)...
  6. Angel Baldán; Fiscal Year: 2016
    ..role of macrophage miR-33 expression on cholesterol -/- mobilization and progression of atherosclerotic lesions in Ldlr mice;and 3) Test the hypothesis that systemic silencing of miR-33 is atheroprotective in vivo, by characterizing ..
  7. Guojun Bu; Fiscal Year: 2016
    ..Mounting evidence indicates that both apoE and apoE receptors, members of the low-density lipoprotein receptor (LDLR) family, play important roles in A[unreadable] clearance, aggregation and toxicity...
  8. Ann Marie Schmidt; Fiscal Year: 2016
    ..Studies in non-diabetic and diabetic LDL receptor (LDLR) null mice and apolipoprotein Apoe null mice revealed that blockade of ligand-RAGE interaction resulted ..
  9. Hong Wang; Fiscal Year: 2016
    ..unreadable]-synthase (CBS) which degrade homocysteine (Hcy), and either apolipoprotein E (ApoE) or low density lipoprotein receptor (LDLR), and with an inducible human CBS gene (Tg-hCBS ApoE-/- Cbs-/-, Tg- hCBS Cbs-/-, and Ldlr-/- ..
  10. Functions of apoE in cholesterol and triglyceride homeostasis
    Vassilis I Zannis; Fiscal Year: 2010
    ..These residues also influence the formation of apoE-containing HDL particles. Deficiency of the LDL receptor or mutations in the receptor binding domain of apoE decreases the threshold of apoE required for induction of ..
  11. An immunoadhesin for treatment of hypercholesterolemia
    KEITH WYCOFF; Fiscal Year: 2012
    ..in maintaining cholesterol homeostasis by regulating cell-surface levels of the low-density lipoprotein receptor (LDLR), a plasma membrane glycoprotein that removes LDL-C particles from the plasma...
  12. Joseph L Goldstein; Fiscal Year: 2016
    DESCRIPTION (provided by applicant): This Program Project Grant (PPG) began 35 years ago when we delineated the LDL receptor pathway for control of cholesterol metabolism and showed that defects in the LDL receptor produce Familial ..
  13. Sergio Fazio; Fiscal Year: 2014
    ..kexin type 9 (PCSK9) regulates plasma cholesterol levels by enhancing the intracellular degradation of the LDL receptor (LDLR), the primary driver of LDL clearance from plasma. Human PCSK9 is composed of 692 amino-acids...
  14. Scalable Production of New Generation Adeno-Associated Virus Gene Therapy Vectors
    MARTIN W LOCK; Fiscal Year: 2010
    ..manufacture of an adeno- associated virus (AAV) serotype 8-based gene therapy vector bearing a human low density lipoprotein receptor (hLDLR) transgene for the treatment of familial hypercholesterolemia (FH)...
  15. Kasey C Vickers; Fiscal Year: 2015
    ..proposal aims to determine the contribution of lipoprotein receptors, SR-BI and low-density lipoprotein receptor (LDLR), in transferring lipoprotein-bound miR-223 to the liver in vivo...
  16. Guojun Bu; Fiscal Year: 2016
    ..cholesterol and other lipids to neurons via apoE receptors, which belong to the low-density lipoprotein receptor (LDLR) family...
  17. Ronald M Krauss; Fiscal Year: 2015
    ..including post-heparin plasma hepatic lipase activity, which is critical for production of smaller LDL, and LDL receptor activity as assessed in peripheral blood mononuclear cells, a system demonstrated to reflect physiologically ..
  18. Vasanthy Narayanaswami; Fiscal Year: 2016
    ..It mediates its role by serving as a ligand for the low- density lipoprotein receptor (LDLr) family of proteins, which facilitate receptor-mediated endocytosis of lipoproteins, thereby eventually lowering ..
  19. Characterization of Diet1, a hypercholesterolemia resistance gene
    Karen Reue; Fiscal Year: 2013
    ..Diet1 encodes a novel protein characterized by repeating MAM and LDL receptor type A domains, and is expressed predominantly in the small intestine...
  20. The Effect of Diet and Nutrients on the Progression and Treatment of Prostate Can
    George Thomas; Fiscal Year: 2013
    ..Among these, obesity is an increasingly important risk factor. This project will examine the role of diet in the progression of prostate cancer and as an avenue for designing new therapeutic approaches based on existing mouse models. ..
  21. Jingwen Liu; Fiscal Year: 2016
    ..in the control of circulating LDL- cholesterol (LDL-C) levels via modulation of rates of degradation of hepatic LDL receptor (LDLR)...
  22. Macrophage, ABCA1, Inflammation, and Atherosclerosis
    John S Parks; Fiscal Year: 2012
    ..studies, we hypothesize in Specific aim 2 that atherosclerotic lesions in MSKO mice in the low density lipoprotein receptor (LDLr) KO background have fewer macrophages that are CE-enriched relative to LDLrKO mice, resulting ..
  23. PETER A MICHAELY; Fiscal Year: 2015
    DESCRIPTION (provided by applicant): The LDL receptor (LDLR) is the principal endocytic receptor that removes both LDL and its lipoprotein precursor, VLDL remnants, from the circulation...
  24. ABCG1 Function in Diabetes
    Catherine C Hedrick; Fiscal Year: 2012
    ..b>Low density lipoprotein receptor (LDLR)-deficient mice are atherosclerosis-susceptible mice that develop diabetes when fed a ..
  25. The Role of Adaptor Protein Phosphorylation in Regulating Receptor Transport
    Sean D Conner; Fiscal Year: 2012
    ..3) We will de[unreadable]ne how AAK1-mediated ARH phosphorylation regulates low density lipoprotein receptor (LDLR) endocytosis using in vitro assays to determine if ARH phosphorylation impacts binding to the ..
  26. Deliang Guo; Fiscal Year: 2016
    ..Our preliminary data shows that cholesteryl esters and cholesterol-rich low density lipoprotein (LDL) receptor (LDLR) are both highly elevated in GBM cell lines and patient tissues, particularly in EGFRvIII- expressing cells...
  27. Dyslipidemia, Lipoic Acid and Diabetic Vascular Complications in Humanized
    Nobuyo Maeda; Fiscal Year: 2010
    ..Aim 1 by inducing diabetes in mice with humanized apoE of the three isoforms (E2, E3, and E4) and humanized LDL receptor (LDLR), with or without overexpression of human apoB...
  28. Max A Cayo; Fiscal Year: 2016
    ..Familial hypercholesterolemia (FH) is a common (1:500) inherited hyperlipidemia caused by mutations in the LDL receptor (LDLR)...
  29. Response to and signals of caloric restriction and intermittent feeding regimens
    MARC KOPEL HELLERSTEIN; Fiscal Year: 2010
    ....
  30. Effect of apoE on CNS neurons: Role of LRP
    David M Holtzman; Fiscal Year: 2013
    ..New data suggest that the LDL receptor (LDLR) should be re- explored as a potential modulator of apoE/A_ clearance in vivo...
  31. Development of a Porcine Model of Atherosclerosis
    Christopher Rogers; Fiscal Year: 2010
    ..have long been used as models of cardiovascular disease, and pigs with naturally occurring mutations in their LDL receptor (LDLR) gene, and therefore possessing elevated LDL, have been reported...
  32. Genetic and physiological causes of inherited Vascular and Metabolic Diseases
    Arya Mani; Fiscal Year: 2013
    ..arginine (R611C) at a highly conserved residue of the second epidermal growth factor precursor domain in the LDL receptor like protein (LRP6), which encodes a co-receptor in the Wnt signaling pathway...
  33. Development of a Porcine Model of Atherosclerosis
    Christopher Rogers; Fiscal Year: 2012
    ..have long been used as models of cardiovascular disease, and pigs with naturally occurring mutations in their LDL receptor (LDLR) gene, and therefore possessing elevated LDL, have been reported...
  34. Active Immunity Targeted at PCSK9 for the Treatment of Hypercholesterolemia
    Ba Bie Teng; Fiscal Year: 2012
    ..type 9) is a newly discovered gene that has a profound effect on LDL cholesterol levels by binding to LDL receptor and acts as a chaperon, mediates LDL receptor to lysosome for degradation...
  35. Green Tea Nanocarriers: A Promising Approach for the Prevention and Treatment of
    Shu Wang; Fiscal Year: 2011
    ..a target ligand;and 2) preventing and reversing the development of atherosclerosis in genetically susceptible LDL receptor null mice...
  36. Selective inhibitors of ubiquitin E3 ligase to treat high cholesterol
    David E Sterner; Fiscal Year: 2011
    ..The LDL receptor (LDLR) is critical to cholesterol regulation, as mutation of LDLR increases serum cholesterol levels and risk ..
  37. PETER J TONTONOZ; Fiscal Year: 2016
    ..Finally, we identified a novel mechanism whereby LXR activation regulates cholesterol uptake through the LDL receptor pathway...
  38. DAVID YIU KWAN HUI; Fiscal Year: 2016
    DESCRIPTION (provided by applicant): Genetic association studies have identified polymorphism of LDL receptor-related protein-1 (LRP1) as a risk factor for metabolic diseases including premature atherosclerosis...
  39. CELLULAR METABOLISM IN RESPONSE TO HYPERCHOLESTEROLEMIA
    Judah Weinberger; Fiscal Year: 1993
    ..Cells depleted of cholesterol increase their LDL receptor numbers and increase the activity of cholesterol biosynthetic enzymes...
  40. Inflammasome activation by cholesterol crystals
    Eicke Latz; Fiscal Year: 2013
    ..of NALP3 inflammasome activation using a mouse atherosclerosis model with double knock-out mice that lack the LDL receptor and components of the inflammasome (NALP3 and ASC) pathway...
  41. Regulation of factor VIII Levels and Activity by Members of LDL Receptor Family
    Dudley K Strickland; Fiscal Year: 2013
    ..LRP along with the LDL receptor (LDLR) functions in vivo to mediate the hepatic clearance of fVIII...
  42. Nobuyo Maeda; Fiscal Year: 2016
    ..These mice recapitulate the human results, but only when they also express high levels of the human LDL receptor (LDLR)...
  43. NATALIA V GUEVARA; Fiscal Year: 2014
    ..This project will advance our understanding of the natural function of LDL as nucleic acid delivery vector. ..
  44. 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...
  45. An Immune Tolerance Strategy for Prevention and Treatment of Atherosclerosis
    JAYME contact BORENSZTAJN; Fiscal Year: 2011
    ..in two well-establish murine models of atherosclerosis: the low-density lipoprotein receptor deficient mouse (LDLR-/-) and the apolipoprotein E deficient mouse (apoE-/-)...
  46. Alzheimer's Abeta, apolipoproteins and blood-brain barrier
    Berislav V Zlokovic; Fiscal Year: 2013
    ..We hypothesize that the interactions between apolipoprotein (apo) E and the low density lipoprotein receptor (LDLR) and the interactions between apoJ and LDLR-related protein 2 (LRP2) regulate A[unreadable] ..
  47. ROBERT O MARA RYAN; Fiscal Year: 2016
    ..3) The interaction of apoE with LDL receptor related protein 6 (LRP6) will be studied...
  48. Huntington Potter; Fiscal Year: 2015
    ..play in AD pathogenesis, we have obtained evidence that APP/Abeta alters the expression and localization of the LDLR, such that it becomes concentrated in single perinuclear aggregate, rather than sorting to the cell surface...
  49. Role of MicroRNA mi R-33 in Controlling Cholesterol/Lipid Homeostasis
    Anders M Naar; Fiscal Year: 2010
    ..As SREBPs promote cholesterol uptake and synthesis through the transactivation of the LDL receptor gene and cholesterol biosynthesis genes, inhibition of cholesterol efflux by miR-33-dependent down-regulation ..
  50. Peter G W Gettins; Fiscal Year: 2014
    ..One of the receptors involved in regulating these processes is LRP1, a member of the low density lipoprotein receptor family...
  51. Marisa Wong Medina; Fiscal Year: 2014
    ..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 ..
  52. Inflammation, Atherosclerosis and ApoA-I
    Mary G Sorci-Thomas; Fiscal Year: 2013
    ..atherosclerosis and the development of an autoimmune phenotype in response to an atherogenic diet in LDL receptor, apoA-Idouble knockout (DKO) mice...
  53. Vince N Montes; Fiscal Year: 2014
    ..We plan on using LDL receptor knockout (Ldlr-/-) mice on the C57BL/6 background...
  54. Jeffrey D Esko; Fiscal Year: 2016
    ..Hepatocytes express several receptors, including members of the LDL receptor family and Syndecan-1 (Sdc1), a trans-membrane heparan sulfate proteoglycan...
  55. Sampath Parthasarathy; Fiscal Year: 2014
    ..To compare the efficacy of sesame oil with sunflower oil in its anti-atherosclerotic effects with using LDL receptor knockout animals and to delineate and identify the anti-atherosclerotic effects of its non- saponifiable ..
  56. Ming Hui Zou; Fiscal Year: 2014
    ..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, ..
  57. David A Ford; Fiscal Year: 2014
    ..1-ClFALD metabolites will also be identified in atherosclerotic tissue and plasma from LDL receptor-/- mice on an atherogenic diet that overexpress human MPO in their macrophages...
  58. APOE3 AND APOE4 EFFECTS ON CELLULAR PATHOBIOLOGY
    ROBERT PITAS; Fiscal Year: 1999
    ..2) to determine if the low density lipoprotein (LDL) receptor, heparan sulfate proteoglycans (HSPG) and/or the LDL receptor- related protein (LRP) are required for the differential effects; 3) to examine in detail the binding, ..
  59. The genetics and pathophysiology of impaired Wnt signaling in metabolic syndrome
    Arya Mani; Fiscal Year: 2012
    ..identified the disease causing mutations that substitute evolutionarily highly conservative amino acids in the LDL receptor like protein (LRP6), a co-receptor in the Wnt signaling pathway...
  60. Abdominal Adipose Tissue Inflammation
    Peter S Tobias; Fiscal Year: 2013
    ..When hypercholesterolemic Low Density Lipoprotein receptor knockout (LDLr-/-) mice are exposed multiple times to a potent Toll-Like Receptor (TLR) agonist, ..
  61. Steven W Barger; Fiscal Year: 2014
    The LDL receptor-related protein (LRP) family is of interest in Alzheimer disease (AD) research because it includes several receptors for apolipoprotein E (ApoE), and polymorphisms in the gene for the latter (APOE) create the most ..
  62. The role of b-carotene in maternal-fetal nutrition
    Loredana Quadro; Fiscal Year: 2013
    ..We will also use mice lacking low density lipoprotein receptor (LDLr) or class B scavenger receptor (SR-BI) or lipoprotein lipase (LPL) to investigate the role of ..
  63. Emilio B Gonzalez; Fiscal Year: 2014
    ..anti-annexin A2 Abs or soluble binding domain 1 (BD1) of apoER2', or a common antagonist to members of the LDL receptor family named receptor associated protein (RAP) affect aPL-mediated upregulation of TF, ICAM-1, cytokines and ..
  64. 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...
  65. Role of ERK1/2 in Neuromuscular Synapses and Myofiber Development in vivo
    Mendell Rimer; Fiscal Year: 2013
    ..Agrin acts by binding and activating a receptor complex containing LDL receptor related protein 4 (Lrp4) and muscle specific kinase (MuSK)...
  66. Obesity, Inflammation and BPH
    Simon W Hayward; Fiscal Year: 2013
    ..and systemic inflammatory marker changes induced in wild type, leptin receptor knockout (ob/ob) and low density lipoprotein receptor knockout (LDLR-/-) C57/BL6 mice by high fat/high sucrose or high fat/high corn starch dietary ..
  67. Xinchun Pi; Fiscal Year: 2016
    ..Recently I identified LRP1 (low density lipoprotein receptor-related protein 1) as a novel regulator of PPAR signaling...
  68. Li Zhang; Fiscal Year: 2016
    ..facilitate efficient activation of latent PDGF-CC in a mechanism that depends on tPA, integrin Mac-1 and the LDL receptor- related protein-1 (LRP1)...
  69. FAMILIAL DEFECTIVE APO-B100
    THOMAS INNERARITY; Fiscal Year: 1993
    ..A mutation in apo-B100 severely diminishes the ability of low density lipoproteins (LDL) to bind to the LDL receptor. Therefore, LDL accumulate in the plasma because their efficient receptor- mediated catabolism is disrupted...
  70. Roman Covarrubias; Fiscal Year: 2014
    ..preliminary data showing that a receptor previously known to be involved in lipoprotein metabolism, the LDL receptor related protein (LRP), can play a role in iNKT cell activation...
  71. 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 ..
  72. 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...
  73. REGULATION OF LDL RECEPTORS IN ADIPOCYTES
    FREDRIC KRAEMER; Fiscal Year: 1993
    ..b>LDL receptor content in subcellular fractions isolated by differential centrifugation will be quantitated using ..
  74. GENETIC ANALYSIS OF ENDOCYTOSIS
    Monty Krieger; Fiscal Year: 1990
    ..in the endocytosis of LDL and to use these mutants to help define the gene products and functions required for LDL receptor activity...
  75. 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...
  76. Trafficking of LRP and Megalin in Polarized Cells
    Guojun Bu; Fiscal Year: 2006
    ..lipoprotein (LDL) receptor-related protein (LRP) are two large membrane glycoproteins that belong to the LDL receptor gene family...
  77. CELLULAR MECHANISMS IN ATHEROGENESIS
    COLIN SCHWARTZ; Fiscal Year: 1992
    ..oscillatory laminar shear stress, emphasizing changes in cell stiffness, intracellular potential and LDL and Ac-LDL receptor expression and function...