메뉴 건너뛰기




Volumn 44, Issue 10, 2008, Pages 1134-1140

Monogenic hypercholesterolemias: New genes, new drug targets

Author keywords

[No Author keywords available]

Indexed keywords

MAMMALIA;

EID: 54049132876     PISSN: 10227954     EISSN: 16083369     Source Type: Journal    
DOI: 10.1134/S1022795408100025     Document Type: Review
Times cited : (3)

References (39)
  • 2
    • 0035906980 scopus 로고    scopus 로고
    • Molecular Medicine: The Cholesterol Quartet
    • J.L. Goldstein M.S. Brown 2001 Molecular Medicine: The Cholesterol Quartet Science 292 1310 1312
    • (2001) Science , vol.292 , pp. 1310-1312
    • Goldstein, J.L.1    Brown, M.S.2
  • 3
    • 0025102741 scopus 로고
    • Familial Defective Apolipoprotein B-100: A Mutation of Apolipoprotein B That Causes Hypercholesterolemia
    • T.L. Innerarity R.W. Mahley K.H. Weisgraber 1990 Familial Defective Apolipoprotein B-100: A Mutation of Apolipoprotein B That Causes Hypercholesterolemia Lipid Res. 31 1337 1349
    • (1990) Lipid Res. , vol.31 , pp. 1337-1349
    • Innerarity, T.L.1    Mahley, R.W.2    Weisgraber, K.H.3
  • 4
    • 0031706072 scopus 로고    scopus 로고
    • Familial Defective Apolipoprotein B-100
    • 4
    • P.S. Hansen 1998 Familial Defective Apolipoprotein B-100 Dan. Med. Bull. 45 4 370 382
    • (1998) Dan. Med. Bull. , vol.45 , pp. 370-382
    • Hansen, P.S.1
  • 5
    • 34848900091 scopus 로고    scopus 로고
    • Familial Hypercholesterolemia in St. Petersburg: Diversity of Mutations Argues against a Strong Founder Effect
    • 9
    • F.M. Zakharova Yu.A. Tatishcheva V.I. Golubkov 2007 Familial Hypercholesterolemia in St. Petersburg: Diversity of Mutations Argues against a Strong Founder Effect Russ. J. Genet. 43 9 1046 1052
    • (2007) Russ. J. Genet. , vol.43 , pp. 1046-1052
    • Zakharova, F.M.1    Tatishcheva, Yu.A.2    Golubkov, V.I.3
  • 6
    • 0035906961 scopus 로고    scopus 로고
    • Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor Protein
    • C.K. Garcia K. Wilund M. Arca 2001 Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor Protein Science 292 1394 1398
    • (2001) Science , vol.292 , pp. 1394-1398
    • Garcia, C.K.1    Wilund, K.2    Arca, M.3
  • 7
    • 0037045847 scopus 로고    scopus 로고
    • Autosomal Recessive Hypercholesterolemia in Sardinia, Italy, and Mutations in ARH: A Clinical and Molecular Genetic Analysis
    • M. Arca G. Zuliani K. Wilund 2002 Autosomal Recessive Hypercholesterolemia in Sardinia, Italy, and Mutations in ARH: A Clinical and Molecular Genetic Analysis Lancet 359 841 847
    • (2002) Lancet , vol.359 , pp. 841-847
    • Arca, M.1    Zuliani, G.2    Wilund, K.3
  • 8
    • 0037417807 scopus 로고    scopus 로고
    • The Secretory Proprotein Convertase Neural Apoptosis-Regulated Convertase 1 (NARC-1): Liver Regeneration and Neuronal Differentiation
    • 3
    • N.G. Seidah S. Benjannet L. Wickham 2003 The Secretory Proprotein Convertase Neural Apoptosis-Regulated Convertase 1 (NARC-1): Liver Regeneration and Neuronal Differentiation Proc. Natl. Acad. Sci. USA 100 3 928 933
    • (2003) Proc. Natl. Acad. Sci. USA , vol.100 , pp. 928-933
    • Seidah, N.G.1    Benjannet, S.2    Wickham, L.3
  • 9
    • 0037603589 scopus 로고    scopus 로고
    • Mutations in PCSK9 Cause Autosomal Dominant Hypercholesterolemia
    • 2
    • M. Abifadel M. Varret J.P. Rabès 2003 Mutations in PCSK9 Cause Autosomal Dominant Hypercholesterolemia Nat. Genet. 34 2 154 156
    • (2003) Nat. Genet. , vol.34 , pp. 154-156
    • Abifadel, M.1    Varret, M.2    Rabès, J.P.3
  • 10
    • 40949136906 scopus 로고    scopus 로고
    • PCSK9: An Enigmatic Protease
    • 4
    • D. Lopez 2008 PCSK9: An Enigmatic Protease Biochim. Biophys. Acta 1781 4 184 191
    • (2008) Biochim. Biophys. Acta , vol.1781 , pp. 184-191
    • Lopez, D.1
  • 11
    • 33344464808 scopus 로고    scopus 로고
    • A Spectrum of PCKS9 Alleles Contributes to Plasma Levels of Low-Density Lipoprotein Cholesterol
    • I.K. Kotowski A. Pertsemlidis A. Luke 2006 A Spectrum of PCKS9 Alleles Contributes to Plasma Levels of Low-Density Lipoprotein Cholesterol Am. J. Hum. Genet. 78 410 422
    • (2006) Am. J. Hum. Genet. , vol.78 , pp. 410-422
    • Kotowski, I.K.1    Pertsemlidis, A.2    Luke, A.3
  • 12
    • 13944265645 scopus 로고    scopus 로고
    • Low LDL Cholesterol in Individuals of African Descent Resulting from Frequent Nonsense Mutations in PCSK9
    • 2
    • J. Cohen A. Pertsemlidis I.K. Kotowski 2005 Low LDL Cholesterol in Individuals of African Descent Resulting from Frequent Nonsense Mutations in PCSK9 Nat. Genet. 37 2 161 165
    • (2005) Nat. Genet. , vol.37 , pp. 161-165
    • Cohen, J.1    Pertsemlidis, A.2    Kotowski, I.K.3
  • 13
    • 33846679386 scopus 로고    scopus 로고
    • Molecular Biology of PCSK9: Its Role in LDL Metabolism
    • 2
    • J.D. Horton J.C. Cohen H.H. Hobbs 2007 Molecular Biology of PCSK9: Its Role in LDL Metabolism Trends Biochem. Sci. 32 2 71 77
    • (2007) Trends Biochem. Sci. , vol.32 , pp. 71-77
    • Horton, J.D.1    Cohen, J.C.2    Hobbs, H.H.3
  • 14
    • 26444565085 scopus 로고    scopus 로고
    • What Has Familial Hypercholesterolemia Study Contributed towards the Understanding of Dislipidemia Genetics?
    • 12
    • M.Yu. Mandelshtam 2003 What Has Familial Hypercholesterolemia Study Contributed towards the Understanding of Dislipidemia Genetics? Med. Genet. 2 12 509 519
    • (2003) Med. Genet. , vol.2 , pp. 509-519
    • Mandelshtam, M.Yu.1
  • 15
    • 0018746012 scopus 로고
    • Inhibition of Cholesterol Synthesis with Compactin Renders Growth of Cultured Cells Dependent on the Low Density Lipoprotein Receptor
    • 12
    • J.L. Goldstein J.A. Helgeson M.S. Brown 1979 Inhibition of Cholesterol Synthesis with Compactin Renders Growth of Cultured Cells Dependent on the Low Density Lipoprotein Receptor J. Biol. Chem. 254 12 5403 5409
    • (1979) J. Biol. Chem. , vol.254 , pp. 5403-5409
    • Goldstein, J.L.1    Helgeson, J.A.2    Brown, M.S.3
  • 16
    • 0030848734 scopus 로고    scopus 로고
    • In Vivo Mechanism-Based Discovery of a Potent Cholesterol Absorption Inhibitor (SCH 58235) through the Identifications of the Active Metabolites of SCH48461
    • M. Van Heek C. France D.S. Compton 1997 In Vivo Mechanism-Based Discovery of a Potent Cholesterol Absorption Inhibitor (SCH 58235) through the Identifications of the Active Metabolites of SCH48461 J. Pharmacol. Exptl. Ther. 283 157 163
    • (1997) J. Pharmacol. Exptl. Ther. , vol.283 , pp. 157-163
    • Van Heek, M.1    France, C.2    Compton, D.S.3
  • 17
    • 10744221008 scopus 로고    scopus 로고
    • Niemann-Pick C1 Like 1 Protein Is Critical for Intestinal Cholesterol Absorption
    • S.W. Altmann H.R. Davis L. Zhu 2004 Niemann-Pick C1 Like 1 Protein Is Critical for Intestinal Cholesterol Absorption Science 303 1201 1204
    • (2004) Science , vol.303 , pp. 1201-1204
    • Altmann, S.W.1    Davis, H.R.2    Zhu, L.3
  • 18
    • 34547857877 scopus 로고    scopus 로고
    • Zetia: Inhibition of Niemann-Pick C1 Like 1 (NPC1L1) to Reduce Intestinal Cholesterol Absorption and Treat Hyperlipidemia
    • 3
    • H.R. Davis E.P. Veltri 2007 Zetia: Inhibition of Niemann-Pick C1 Like 1 (NPC1L1) to Reduce Intestinal Cholesterol Absorption and Treat Hyperlipidemia J. Atheroscler. Thromb. 14 3 99 108
    • (2007) J. Atheroscler. Thromb. , vol.14 , pp. 99-108
    • Davis, H.R.1    Veltri, E.P.2
  • 19
    • 34548285811 scopus 로고    scopus 로고
    • Ezetimibe: An Update on the Mechanism of Action, Pharmacokinetics and Recent Clinical Trials
    • 3
    • M.E. Sweeney R.R. Johnson 2007 Ezetimibe: An Update on the Mechanism of Action, Pharmacokinetics and Recent Clinical Trials Expert Opin. Drug. Metab. Toxicol. 3 3 441 450
    • (2007) Expert Opin. Drug. Metab. Toxicol. , vol.3 , pp. 441-450
    • Sweeney, M.E.1    Johnson, R.R.2
  • 20
    • 0034127788 scopus 로고    scopus 로고
    • Genetic Localization to Chromosome 1p32 of the Third Locus for Familial Hypercholesterolemia in a Utah Kindred
    • S.C. Hunt P.N. Hopkins K. Bulka 2000 Genetic Localization to Chromosome 1p32 of the Third Locus for Familial Hypercholesterolemia in a Utah Kindred Arterioscler. Thromb. Vasc. Biol. 20 1089 1093
    • (2000) Arterioscler. Thromb. Vasc. Biol. , vol.20 , pp. 1089-1093
    • Hunt, S.C.1    Hopkins, P.N.2    Bulka, K.3
  • 21
    • 10344253854 scopus 로고    scopus 로고
    • NARC-1/PCSK9 and Its Natural Mutants: Zymogen Cleavage and Effects on the Low Density Lipoprotein (LDL) Receptor and LDL Cholesterol
    • 47
    • S. Benjannet D. Rhainds R. Essalmani 2004 NARC-1/PCSK9 and Its Natural Mutants: Zymogen Cleavage and Effects on the Low Density Lipoprotein (LDL) Receptor and LDL Cholesterol J. Biol. Chem. 279 47 48865 48875
    • (2004) J. Biol. Chem. , vol.279 , pp. 48865-48875
    • Benjannet, S.1    Rhainds, D.2    Essalmani, R.3
  • 22
    • 2342451128 scopus 로고    scopus 로고
    • Adenoviral-Mediated Expression of Pcsk9 in Mice Results in a Low-Density Lipoprotein Receptor Knockout Phenotype
    • 18
    • K.N. Maxwell J.L. Breslow 2004 Adenoviral-Mediated Expression of Pcsk9 in Mice Results in a Low-Density Lipoprotein Receptor Knockout Phenotype Proc. Natl. Acad. Sci. USA 101 18 7100 7105
    • (2004) Proc. Natl. Acad. Sci. USA , vol.101 , pp. 7100-7105
    • Maxwell, K.N.1    Breslow, J.L.2
  • 23
    • 9644266673 scopus 로고    scopus 로고
    • Post-Transcriptional Regulation of Low Density Lipoprotein Receptor Protein by Proprotein Convertase Subtilisin/Kexin Type 9a in Mouse Liver
    • 48
    • S.W. Park Y.A. Moon J.D. Horton 2004 Post-Transcriptional Regulation of Low Density Lipoprotein Receptor Protein by Proprotein Convertase Subtilisin/Kexin Type 9a in Mouse Liver J. Biol. Chem. 279 48 50630 50638
    • (2004) J. Biol. Chem. , vol.279 , pp. 50630-50638
    • Park, S.W.1    Moon, Y.A.2    Horton, J.D.3
  • 24
    • 33645103550 scopus 로고    scopus 로고
    • Sequence Variations in PCSK9, Low LDL, and Protection against Coronary Heart Disease
    • 12
    • J.C. Cohen E. Boerwinkle T.H. Mosley H.H. Hobbs 2006 Sequence Variations in PCSK9, Low LDL, and Protection against Coronary Heart Disease N. Engl. J. Med. 354 12 1264 1272
    • (2006) N. Engl. J. Med. , vol.354 , pp. 1264-1272
    • Cohen, J.C.1    Boerwinkle, E.2    Mosley, T.H.3    Hobbs, H.H.4
  • 25
    • 17244377696 scopus 로고    scopus 로고
    • Decreased Plasma Cholesterol and Hypersensitivity to Statins in Mice Lacking Pcsk9
    • 15
    • S. Rashid D.E. Curtis R. Garuti 2005 Decreased Plasma Cholesterol and Hypersensitivity to Statins in Mice Lacking Pcsk9 Proc. Natl. Acad. Sci. USA 102 15 5374 5379
    • (2005) Proc. Natl. Acad. Sci. USA , vol.102 , pp. 5374-5379
    • Rashid, S.1    Curtis, D.E.2    Garuti, R.3
  • 26
    • 13844310887 scopus 로고    scopus 로고
    • Overexpression of PCSK9 Accelerates the Degradation of the LDLR in a Post-Endoplasmic Reticulum Compartment
    • 6
    • K.N. Maxwell E.A. Fisher J.L. Breslow 2005 Overexpression of PCSK9 Accelerates the Degradation of the LDLR in a Post-Endoplasmic Reticulum Compartment Proc. Natl. Acad. Sci. USA 102 6 2069 2074
    • (2005) Proc. Natl. Acad. Sci. USA , vol.102 , pp. 2069-2074
    • Maxwell, K.N.1    Fisher, E.A.2    Breslow, J.L.3
  • 27
    • 33646199829 scopus 로고    scopus 로고
    • Effect of Mutations in the PCSK9 Gene on the Cell Surface LDL Receptors
    • 9
    • J. Cameron L. Holla T. Ranheim 2006 Effect of Mutations in the PCSK9 Gene on the Cell Surface LDL Receptors Hum. Mol. Genet. 15 9 1551 1558
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 1551-1558
    • Cameron, J.1    Holla, L.2    Ranheim, T.3
  • 28
    • 33750597734 scopus 로고    scopus 로고
    • Secreted PCSK9 Decreases the Number of LDL Receptors in Hepatocytes and in Livers of Parabiotic Mice
    • 11
    • T.A. Lagace D.E. Curtis R. Garuti 2006 Secreted PCSK9 Decreases the Number of LDL Receptors in Hepatocytes and in Livers of Parabiotic Mice J. Clin. Invest. 116 11 2995 3005
    • (2006) J. Clin. Invest. , vol.116 , pp. 2995-3005
    • Lagace, T.A.1    Curtis, D.E.2    Garuti, R.3
  • 29
    • 34547137377 scopus 로고    scopus 로고
    • Catalytic Activity Is not Required for Secreted PCSK9 to Reduce Low Density Lipoprotein Receptors in HepG2 Cells
    • M.C. McNutt T.A. Lagace J.D. Horton 2007 Catalytic Activity Is not Required for Secreted PCSK9 to Reduce Low Density Lipoprotein Receptors in HepG2 Cells J. Biol. Chem. 282 20799 20803
    • (2007) J. Biol. Chem. , vol.282 , pp. 20799-20803
    • McNutt, M.C.1    Lagace, T.A.2    Horton, J.D.3
  • 30
    • 33745875635 scopus 로고    scopus 로고
    • Implication of the Proprotein Convertase NARC-1/PCSK9 in the Development of the Nervous System
    • 3
    • S. Poirier A. Prat E. Marcinkiewicz 2006 Implication of the Proprotein Convertase NARC-1/PCSK9 in the Development of the Nervous System J. Neurochem. 98 3 838 850
    • (2006) J. Neurochem. , vol.98 , pp. 838-850
    • Poirier, S.1    Prat, A.2    Marcinkiewicz, E.3
  • 31
    • 33748661502 scopus 로고    scopus 로고
    • Molecular Characterization of Loss-of-Function Mutations in PCSK9 and Identification of a Compound Heterozygote
    • 3
    • Z. Zhao Y. Tuakli-Wosornu T.A. Lagace 2006 Molecular Characterization of Loss-of-Function Mutations in PCSK9 and Identification of a Compound Heterozygote Am. J. Hum. Genet. 79 3 514 523
    • (2006) Am. J. Hum. Genet. , vol.79 , pp. 514-523
    • Zhao, Z.1    Tuakli-Wosornu, Y.2    Lagace, T.A.3
  • 32
    • 34447299120 scopus 로고    scopus 로고
    • The C679X Mutation in PCSK9 Is Present and Lowers Blood Cholesterol in a Southern African Population
    • 2
    • A.J. Hooper A.D. Marais D.M. Tanyanyiwa J.R. Burnett 2007 The C679X Mutation in PCSK9 Is Present and Lowers Blood Cholesterol in a Southern African Population Atherosclerosis 193 2 445 448
    • (2007) Atherosclerosis , vol.193 , pp. 445-448
    • Hooper, A.J.1    Marais, A.D.2    Tanyanyiwa, D.M.3    Burnett, J.R.4
  • 33
    • 3943060193 scopus 로고    scopus 로고
    • Statins Upregulate PCSK9, the Gene Encoding the Proprotein Convertase Neural Apoptosis-Regulated Convertase-1 Implicated in Familial Hypercholesterolemia, Arterioscler
    • 8
    • G. Dubuc A. Chamberland H. Wassef 2004 Statins Upregulate PCSK9, the Gene Encoding the Proprotein Convertase Neural Apoptosis-Regulated Convertase-1 Implicated in Familial Hypercholesterolemia, Arterioscler Thromb. Vasc. Biol. 24 8 1454 1459
    • (2004) Thromb. Vasc. Biol. , vol.24 , pp. 1454-1459
    • Dubuc, G.1    Chamberland, A.2    Wassef, H.3
  • 34
    • 38949137409 scopus 로고    scopus 로고
    • Sterol-Dependent Regulation of Proprotein Convertase Subtilisin/Kexin Type 9 Expression by Sterol-Regulatory Element Binding Protein-2
    • 2
    • H.J. Jeong H.S. Lee K.S. Kim 2008 Sterol-Dependent Regulation of Proprotein Convertase Subtilisin/Kexin Type 9 Expression by Sterol-Regulatory Element Binding Protein-2 J. Lipid Res. 49 2 399 409
    • (2008) J. Lipid Res. , vol.49 , pp. 399-409
    • Jeong, H.J.1    Lee, H.S.2    Kim, K.S.3
  • 35
    • 44349177547 scopus 로고    scopus 로고
    • Dual Mechanisms for the Fibrate-Mediated Repression of Proprotein Convertasesubtilisin/Kexin Type 9
    • 15
    • S. Kourimate C. Le May C. Langhi 2008 Dual Mechanisms for the Fibrate-Mediated Repression of Proprotein Convertasesubtilisin/Kexin Type 9 J. Biol. Chem. 283 15 9666 9673
    • (2008) J. Biol. Chem. , vol.283 , pp. 9666-9673
    • Kourimate, S.1    Le May, C.2    Langhi, C.3
  • 36
    • 34247892364 scopus 로고    scopus 로고
    • The Crystal Structure of PCSK9: A Regulator of Plasma LDL-Cholesterol
    • 5
    • D.E. Piper S. Jackson Q. Liu 2007 The Crystal Structure of PCSK9: A Regulator of Plasma LDL-Cholesterol Structure 15 5 545 552
    • (2007) Structure , vol.15 , pp. 545-552
    • Piper, D.E.1    Jackson, S.2    Liu, Q.3
  • 37
    • 35548988009 scopus 로고    scopus 로고
    • The Self-Inhibited Structure of Full-Length PCSK9 at 1.9 Å Reveals Structural Homology with Resistin within the C-Terminal Domain
    • 37
    • E.N. Hampton M.W. Knuth J. Li 2007 The Self-Inhibited Structure of Full-Length PCSK9 at 1.9 Å Reveals Structural Homology with Resistin within the C-Terminal Domain Proc. Natl. Acad. Sci. USA 104 37 14604 14609
    • (2007) Proc. Natl. Acad. Sci. USA , vol.104 , pp. 14604-14609
    • Hampton, E.N.1    Knuth, M.W.2    Li, J.3
  • 38
    • 38949103409 scopus 로고    scopus 로고
    • Self-Association of Human PCSK9 Correlates with Its LDLR-Degrading Activity
    • 6
    • D. Fan P.G. Yancey S. Qiu 2008 Self-Association of Human PCSK9 Correlates with Its LDLR-Degrading Activity Biochemistry 47 6 1631 1639
    • (2008) Biochemistry , vol.47 , pp. 1631-1639
    • Fan, D.1    Yancey, P.G.2    Qiu, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.