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Volumn 52, Issue 8, 2006, Pages 1469-1479

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

Author keywords

[No Author keywords available]

Indexed keywords

IODINE 125; LOW DENSITY LIPOPROTEIN RECEPTOR;

EID: 33746584774     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2006.068627     Document Type: Article
Times cited : (12)

References (35)
  • 1
    • 0000600880 scopus 로고    scopus 로고
    • Familial hypercholesterolemia
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
    • Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. New York: McGraw-Hill, 2001:2863-913.
    • (2001) The Metabolic Basis of Inherited Disease , pp. 2863-2913
    • Goldstein, J.L.1    Hobbs, H.H.2    Brown, M.S.3
  • 4
    • 0020420335 scopus 로고
    • Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia
    • Tolleshaug H, Goldstein JL, Schneider WJ, Brown MS. Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia. Cell 1982;30:715-24.
    • (1982) Cell , vol.30 , pp. 715-724
    • Tolleshaug, H.1    Goldstein, J.L.2    Schneider, W.J.3    Brown, M.S.4
  • 5
    • 0022549920 scopus 로고
    • A receptor-mediated pathway for cholesterol homeostasis
    • Brown MS, Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis. Science 1986;232:34-47.
    • (1986) Science , vol.232 , pp. 34-47
    • Brown, M.S.1    Goldstein, J.L.2
  • 6
    • 0022456630 scopus 로고
    • The J.D. mutation in familial hypercholesterolemia: Amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors
    • Davis CG, Lehrman MA, Russell DW, Anderson RG, Brown MS, Goldstein JL. The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. Cell 1986;45:15-24.
    • (1986) Cell , vol.45 , pp. 15-24
    • Davis, C.G.1    Lehrman, M.A.2    Russell, D.W.3    Anderson, R.G.4    Brown, M.S.5    Goldstein, J.L.6
  • 7
    • 0027026881 scopus 로고
    • Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
    • Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1992; 1:445-66.
    • (1992) Hum Mutat , vol.1 , pp. 445-466
    • Hobbs, H.H.1    Brown, M.S.2    Goldstein, J.L.3
  • 9
    • 0025597137 scopus 로고
    • The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein
    • Hobbs HH, Russell DW, Brown MS, Goldstein JL. The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Annu Rev Genet 1990;24:133-70.
    • (1990) Annu Rev Genet , vol.24 , pp. 133-170
    • Hobbs, H.H.1    Russell, D.W.2    Brown, M.S.3    Goldstein, J.L.4
  • 10
    • 0023835243 scopus 로고
    • Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions
    • Hobbs HH, Leitersdorf E, Goldstein JL, Brown MS, Russell DW. Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions. J Clin Invest 1988;81:909-17.
    • (1988) J Clin Invest , vol.81 , pp. 909-917
    • Hobbs, H.H.1    Leitersdorf, E.2    Goldstein, J.L.3    Brown, M.S.4    Russell, D.W.5
  • 12
    • 0021932361 scopus 로고
    • Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain
    • Lehrman MA, Goldstein JL, Brown MS, Russell DW, Schneider WJ. Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain. Cell 1985;41:735-43.
    • (1985) Cell , vol.41 , pp. 735-743
    • Lehrman, M.A.1    Goldstein, J.L.2    Brown, M.S.3    Russell, D.W.4    Schneider, W.J.5
  • 13
    • 6344253104 scopus 로고    scopus 로고
    • Cooperation between fixed and low pH-inducible interfaces controls lipoprotein release by the LDL receptor
    • Beglova N, Jeon H, Fisher C, Blacklow SC. Cooperation between fixed and low pH-inducible interfaces controls lipoprotein release by the LDL receptor. Mol Cell 2004;16:281-92.
    • (2004) Mol Cell , vol.16 , pp. 281-292
    • Beglova, N.1    Jeon, H.2    Fisher, C.3    Blacklow, S.C.4
  • 14
    • 33644863652 scopus 로고    scopus 로고
    • Retention of mutant low density lipoprotein receptor in ER leads to ER stress
    • Sorensen S, Ranheim T, Bakken KS, Leren TP, Kulseth MA. Retention of mutant low density lipoprotein receptor in ER leads to ER stress. J Biol Chem 2006;281:468-76.
    • (2006) J Biol Chem , vol.281 , pp. 468-476
    • Sorensen, S.1    Ranheim, T.2    Bakken, K.S.3    Leren, T.P.4    Kulseth, M.A.5
  • 16
    • 0024278745 scopus 로고
    • Human low density lipoprotein receptor expressed in Xenopus oocytes. Conserved signals for 0-linked glycosylation and receptor-mediated endocytosis
    • Peacock SL, Bates MP, Russell DW, Brown MS, Goldstein JL. Human low density lipoprotein receptor expressed in Xenopus oocytes. Conserved signals for 0-linked glycosylation and receptor-mediated endocytosis. J Biol Chem 1988;263:7838-45.
    • (1988) J Biol Chem , vol.263 , pp. 7838-7845
    • Peacock, S.L.1    Bates, M.P.2    Russell, D.W.3    Brown, M.S.4    Goldstein, J.L.5
  • 17
    • 0019888656 scopus 로고
    • Monoclonal antibodies to the low density lipoprotein receptor as probes for study of receptor-mediated endocytosis and the genetics of familial hypercholesterolemia
    • Beisiegel U, Schneider WJ, Goldstein JL, Anderson RG, Brown MS. Monoclonal antibodies to the low density lipoprotein receptor as probes for study of receptor-mediated endocytosis and the genetics of familial hypercholesterolemia. J Biol Chem 1981;256: 11923-31.
    • (1981) J Biol Chem , vol.256 , pp. 11923-11931
    • Beisiegel, U.1    Schneider, W.J.2    Goldstein, J.L.3    Anderson, R.G.4    Brown, M.S.5
  • 18
    • 33745026603 scopus 로고
    • The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum
    • Havel RJ, Eder HA, Bragdon JH. The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. J Clin Invest 1955;34:1345-53.
    • (1955) J Clin Invest , vol.34 , pp. 1345-1353
    • Havel, R.J.1    Eder, H.A.2    Bragdon, J.H.3
  • 19
    • 0019796014 scopus 로고
    • Acetoacetylated lipoproteins used to distinguish fibroblasts from macrophages in vitro by fluorescence microscopy
    • Pitas RE, Innerarity TL, Weinstein JN, Mahley RW. Acetoacetylated lipoproteins used to distinguish fibroblasts from macrophages in vitro by fluorescence microscopy. Arteriosclerosis 1981;1:177-85.
    • (1981) Arteriosclerosis , vol.1 , pp. 177-185
    • Pitas, R.E.1    Innerarity, T.L.2    Weinstein, J.N.3    Mahley, R.W.4
  • 20
    • 0020526063 scopus 로고
    • A radioiodinated, intracellularly trapped ligand for determining the sites of plasma protein degradation in vivo
    • Pittman RC, Carew TE, Glass CK, Green SR, Taylor CA Jr, Attie AD. A radioiodinated, intracellularly trapped ligand for determining the sites of plasma protein degradation in vivo. Biochem J 1983;212: 791-800.
    • (1983) Biochem J , vol.212 , pp. 791-800
    • Pittman, R.C.1    Carew, T.E.2    Glass, C.K.3    Green, S.R.4    Taylor Jr., C.A.5    Attie, A.D.6
  • 21
    • 0020973547 scopus 로고
    • Receptor-mediated endocytosis of low-density lipoprotein in cultured cells
    • Goldstein JL, Basu SK, Brown MS. Receptor-mediated endocytosis of low-density lipoprotein in cultured cells. Methods Enzymol 1983;98:241-60.
    • (1983) Methods Enzymol , vol.98 , pp. 241-260
    • Goldstein, J.L.1    Basu, S.K.2    Brown, M.S.3
  • 22
    • 0037007109 scopus 로고    scopus 로고
    • Endoplasmic reticulum localization of the low density lipoprotein receptor mediates presecretory degradation of apolipoprotein B
    • Gillian-Daniel DL, Bates PW, Tebon A, Attie AD. Endoplasmic reticulum localization of the low density lipoprotein receptor mediates presecretory degradation of apolipoprotein B. Proc Natl Acad Sci U S A 2002;99:4337-42.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 4337-4342
    • Gillian-Daniel, D.L.1    Bates, P.W.2    Tebon, A.3    Attie, A.D.4
  • 23
    • 0029030937 scopus 로고
    • EEA1, an early endosome-associated protein. EEA1 is a conserved α-helical peripheral membrane protein flanked by cysteine "fingers" and contains a calmodulin-binding IQ motif
    • Mu FT, Callaghan JM, Steele-Mortimer O, Stenmark H, Parton RG, Campbell PL, et al. EEA1, an early endosome-associated protein. EEA1 is a conserved α-helical peripheral membrane protein flanked by cysteine "fingers" and contains a calmodulin-binding IQ motif. J Biol Chem 1995;270:13503-11.
    • (1995) J Biol Chem , vol.270 , pp. 13503-13511
    • Mu, F.T.1    Callaghan, J.M.2    Steele-Mortimer, O.3    Stenmark, H.4    Parton, R.G.5    Campbell, P.L.6
  • 24
    • 0017661852 scopus 로고
    • Genetics of the LDL receptor: Evidence that the mutations affecting binding and internalization are allelic
    • Goldstein JL, Brown MS, Stone NJ. Genetics of the LDL receptor: evidence that the mutations affecting binding and internalization are allelic. Cell 1977;12:629-41.
    • (1977) Cell , vol.12 , pp. 629-641
    • Goldstein, J.L.1    Brown, M.S.2    Stone, N.J.3
  • 25
    • 0028026793 scopus 로고
    • The role of clathrin, adaptors and dynamin in endocytosis
    • Robinson MS. The role of clathrin, adaptors and dynamin in endocytosis. Curr Opin Cell Biol 1994;6:538-44.
    • (1994) Curr Opin Cell Biol , vol.6 , pp. 538-544
    • Robinson, M.S.1
  • 26
    • 0027453262 scopus 로고
    • Rapid fluorometric assay of LDL receptor activity by Dil-labeled LDL
    • Stephan ZF, Yurachek EC. Rapid fluorometric assay of LDL receptor activity by Dil-labeled LDL. J Lipid Res 1993;34:325-30.
    • (1993) J Lipid Res , vol.34 , pp. 325-330
    • Stephan, Z.F.1    Yurachek, E.C.2
  • 27
    • 0027230461 scopus 로고
    • Fluorescence flow cytometry of human leukocytes in the detection of LDL receptor defects in the differential diagnosis of hypercholesterolemia
    • Schmitz G, Bruning T, Kovacs E, Barlage S. Fluorescence flow cytometry of human leukocytes in the detection of LDL receptor defects in the differential diagnosis of hypercholesterolemia. Arterioscler Thromb 1993;13:1053-65.
    • (1993) Arterioscler Thromb , vol.13 , pp. 1053-1065
    • Schmitz, G.1    Bruning, T.2    Kovacs, E.3    Barlage, S.4
  • 28
    • 0023720346 scopus 로고
    • Transport-deficient mutations in the low density lipoprotein receptor. Alterations in the cysteine-rich and cysteine-poor regions of the protein block intracellular transport
    • Esser V, Russell DW. Transport-deficient mutations in the low density lipoprotein receptor. Alterations in the cysteine-rich and cysteine-poor regions of the protein block intracellular transport. J Biol Chem 1988;263:13276-81.
    • (1988) J Biol Chem , vol.263 , pp. 13276-13281
    • Esser, V.1    Russell, D.W.2
  • 29
    • 0024806811 scopus 로고
    • Different combinations of cysteine-rich repeats mediate binding of low density lipoprotein receptor to two different proteins
    • Russell DW, Brown MS, Goldstein JL. Different combinations of cysteine-rich repeats mediate binding of low density lipoprotein receptor to two different proteins. J Biol Chem 1989;264: 21682-8.
    • (1989) J Biol Chem , vol.264 , pp. 21682-21688
    • Russell, D.W.1    Brown, M.S.2    Goldstein, J.L.3
  • 30
    • 0037417807 scopus 로고    scopus 로고
    • The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): Liver regeneration and neuronal differentiation
    • Seidah NG, Benjannet S, Wickham L, Marcinkiewicz J, Jasmin SB, Stifani S, et al. The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation. Proc Natl Acad Sci U S A 2003;100: 928-33.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 928-933
    • Seidah, N.G.1    Benjannet, S.2    Wickham, L.3    Marcinkiewicz, J.4    Jasmin, S.B.5    Stifani, S.6
  • 31
    • 9644266673 scopus 로고    scopus 로고
    • Post-transcriptional regulation of low density lipoprotein receptor protein by proprotein convertase subtilisin/kexin type 9a in mouse liver
    • Park SW, Moon YA, Norton JD. Post-transcriptional regulation of low density lipoprotein receptor protein by proprotein convertase subtilisin/kexin type 9a in mouse liver. J Biol Chem 2004;279: 50630-8.
    • (2004) J Biol Chem , vol.279 , pp. 50630-50638
    • Park, S.W.1    Moon, Y.A.2    Norton, J.D.3
  • 32
    • 0023091262 scopus 로고
    • Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region
    • Davis CG, Goldstein JL, Sudhof TC, Anderson RG, Russell DW, Brown MS. Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region. Nature 1987;326:760-5.
    • (1987) Nature , vol.326 , pp. 760-765
    • Davis, C.G.1    Goldstein, J.L.2    Sudhof, T.C.3    Anderson, R.G.4    Russell, D.W.5    Brown, M.S.6
  • 33
    • 0018746767 scopus 로고
    • Coated pits, coated vesicles, and receptor-mediated endocytosis
    • Goldstein JL, Anderson RG, Brown MS. Coated pits, coated vesicles, and receptor-mediated endocytosis. Nature 1979;279: 679-85.
    • (1979) Nature , vol.279 , pp. 679-685
    • Goldstein, J.L.1    Anderson, R.G.2    Brown, M.S.3
  • 34
    • 10744229723 scopus 로고    scopus 로고
    • Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese
    • Chang JH, Pan JP, Tai DY, Huang AC, Li PH, Ho HL, et al. Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese. J Lipid Res 2003;44:1850-8.
    • (2003) J Lipid Res , vol.44 , pp. 1850-1858
    • Chang, J.H.1    Pan, J.P.2    Tai, D.Y.3    Huang, A.C.4    Li, P.H.5    Ho, H.L.6
  • 35
    • 0030167583 scopus 로고    scopus 로고
    • Rapid characterization of disease-causing mutations in the low density lipoprotein receptor (LDL-R) gene by overexpression in COS cells
    • Jensen TG, Andresen BS, Jensen HK, Jensen LG, Heath F, Pedersen S, et al. Rapid characterization of disease-causing mutations in the low density lipoprotein receptor (LDL-R) gene by overexpression in COS cells. Z Gastroenterol 1996;34(Suppl 3):9-11.
    • (1996) Z Gastroenterol , vol.34 , Issue.SUPPL. 3 , pp. 9-11
    • Jensen, T.G.1    Andresen, B.S.2    Jensen, H.K.3    Jensen, L.G.4    Heath, F.5    Pedersen, S.6


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