-
1
-
-
33947679772
-
Mechanisms of disease: Genetic causes of familial hypercholesterolemia
-
Soutar, A. K., and R. P. Naoumova. 2007. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat. Clin. Pract. Cardiovasc. Med. 4: 214-225.
-
(2007)
Nat. Clin. Pract. Cardiovasc. Med.
, vol.4
, pp. 214-225
-
-
Soutar, A.K.1
Naoumova, R.P.2
-
2
-
-
0037603589
-
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
-
Abifadel, M., M. Varret, J-P. Rabes, D. Allard, K. Ouguerram, M. Devillers, C. Cruaud, S. Benjannet, L. Wickham, D. Erlich, et al. 2003. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat. Genet. 34: 154-156.
-
(2003)
Nat. Genet.
, vol.34
, pp. 154-156
-
-
Abifadel, M.1
Varret, M.2
Rabes, J.-P.3
Allard, D.4
Ouguerram, K.5
Devillers, M.6
Cruaud, C.7
Benjannet, S.8
Wickham, L.9
Erlich, D.10
-
3
-
-
2442670243
-
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia
-
Leren, T. 2004. Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. Clin. Genet. 65: 419-422.
-
(2004)
Clin. Genet.
, vol.65
, pp. 419-422
-
-
Leren, T.1
-
4
-
-
12144285659
-
A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree
-
Timms, K. M., S. Wagner, M. Samuels, K. Forbey, H. Goldfine, S. Jammulapati, M. Skolnick, P. Hopkins, S. Hunt, and D. Shattuck. 2004. A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Hum. Genet. 114: 349-353.
-
(2004)
Hum. Genet.
, vol.114
, pp. 349-353
-
-
Timms, K.M.1
Wagner, S.2
Samuels, M.3
Forbey, K.4
Goldfine, H.5
Jammulapati, S.6
Skolnick, M.7
Hopkins, P.8
Hunt, S.9
Shattuck, D.10
-
5
-
-
38349100729
-
Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa
-
Homer, V. M., A. D. Marais, F. Charlton, A. D. Laurie, N. Hurndell, R. Scott, F. Mangili, D. R. Sullivan, P. J. Barter, K. A. Rye, et al. 2007. Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa. Atherosclerosis. 196: 659-666.
-
(2007)
Atherosclerosis
, vol.196
, pp. 659-666
-
-
Homer, V.M.1
Marais, A.D.2
Charlton, F.3
Laurie, A.D.4
Hurndell, N.5
Scott, R.6
Mangili, F.7
Sullivan, D.R.8
Barter, P.J.9
Rye, K.A.10
-
6
-
-
38349133635
-
Familial hypercholesterolaemia in Portugal
-
and Investigators of Portuguese FH Study.
-
Bourbon, M., A. C. Alves, A. M. Medeiros, S. Silva, A. K. Soutar, and Investigators of Portuguese FH Study. 2007. Familial hypercholesterolaemia in Portugal. Atherosclerosis. 196: 633-642.
-
(2007)
Atherosclerosis
, vol.196
, pp. 633-642
-
-
Bourbon, M.1
Alves, A.C.2
Medeiros, A.M.3
Silva, S.4
Soutar, A.K.5
-
7
-
-
13944265645
-
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
-
Cohen, J., A. Pertsemlidis, I. K. Kotowski, R. Graham, C. K. Garcia, and H. H. Hobbs. 2005. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat. Genet. 37: 161-165.
-
(2005)
Nat. Genet.
, vol.37
, pp. 161-165
-
-
Cohen, J.1
Pertsemlidis, A.2
Kotowski, I.K.3
Graham, R.4
Garcia, C.K.5
Hobbs, H.H.6
-
8
-
-
33646443979
-
Missense mutations in the PCSK9 gene are associated with hypocholesterolemia and possibly increased response to statin therapy
-
Berge, K. E., L. Ose, and T. P. Leren. 2006. Missense mutations in the PCSK9 gene are associated with hypocholesterolemia and possibly increased response to statin therapy. Arterioscler. Thromb. Vasc. Biol. 26: 1094-1100.
-
(2006)
Arterioscler. Thromb. Vasc. Biol.
, vol.26
, pp. 1094-1100
-
-
Berge, K.E.1
Ose, L.2
Leren, T.P.3
-
9
-
-
33344464808
-
A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol
-
Kotowski, I., A. Pertsemlidis, A. Luke, R. S. Cooper, G. L. Vega, J. C. Cohen, and H. H. Hobbs. 2006. A spectrum of PCSK9 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.1
Pertsemlidis, A.2
Luke, A.3
Cooper, R.S.4
Vega, G.L.5
Cohen, J.C.6
Hobbs, H.H.7
-
10
-
-
33748661502
-
Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote
-
Zhao, Z., Y. Tuakli-Wosornu, T. A. Lagace, L. Kinch, N. V. Grishin, J. D. Horton, J. C. Cohen, and H. H. Hobbs. 2006. Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote. Am. J. Hum. Genet. 79: 514-523.
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 514-523
-
-
Zhao, Z.1
Tuakli-Wosornu, Y.2
Lagace, T.A.3
Kinch, L.4
Grishin, N.V.5
Horton, J.D.6
Cohen, J.C.7
Hobbs, H.H.8
-
11
-
-
17244377696
-
Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9
-
Rashid, S., D. E. Curtis, R. Garuti, N. N. Anderson, Y. Bashmakov, Y. K. Ho, R. E. Hammer, Y-A. Moon, and J. D. Horton. 2005. Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9. Proc. Natl. Acad. Sci. USA. 102: 5374-5379.
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 5374-5379
-
-
Rashid, S.1
Curtis, D.E.2
Garuti, R.3
Anderson, N.N.4
Bashmakov, Y.5
Ho, Y.K.6
Hammer, R.E.7
Moon, Y.-A.8
Horton, J.D.9
-
12
-
-
0033452452
-
Proprotein and prohormone convertases: A family of subtilases generating diverse bioactive polypeptides
-
DOI 10.1016/S0006-8993(99)01909-5, PII S0006899399019095
-
Seidah, N. G., and M. Chretien. 1999. Proprotein and prohormone convertases: a family of subtilases generating diverse bioactive polypeptides. Brain Res. 848: 45-62. (Pubitemid 30001653)
-
(1999)
Brain Research
, vol.848
, Issue.1-2
, pp. 45-62
-
-
Seidah, N.G.1
Chretien, M.2
-
13
-
-
0037417807
-
The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): Liver regeneration and neuronal differentiation
-
Seidah, N. G., S. Benjannet, L. Wickham, J. Marcinkiewicz, S. B. Jasmin, S. Stifani, A. Basak, A. Prat, and M. Chretien. 2003. The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): Liver regeneration and neuronal differentiation. Proc. Natl. Acad. Sci. USA. 100: 928-933.
-
(2003)
Proc. Natl. Acad. Sci. USA
, 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
Basak, A.7
Prat, A.8
Chretien, M.9
-
14
-
-
0031995477
-
The proprotein convertases
-
Steiner, D. F. 1998. The proprotein convertases. Curr. Opin. Chem. Biol. 2: 31-39.
-
(1998)
Curr. Opin. Chem. Biol.
, vol.2
, pp. 31-39
-
-
Steiner, D.F.1
-
15
-
-
10744230230
-
Functional characterization of Narc 1, a novel proteinase related to proteinase K
-
Naureckiene, S., L. Ma, K. Sreekumar, U. Purandare, C. F. Lo, Y. Huang, L.W. Chiang, J.M. Grenier, B. A. Ozenberger, J. S. Jacobsen, et al. 2003. Functional characterization of Narc 1, a novel proteinase related to proteinase K. Arch. Biochem. Biophys. 420: 55-67.
-
(2003)
Arch. Biochem. Biophys.
, vol.420
, pp. 55-67
-
-
Naureckiene, S.1
Ma, L.2
Sreekumar, K.3
Purandare, U.4
Lo, C.F.5
Huang, Y.6
Chiang, L.W.7
Grenier, J.M.8
Ozenberger, B.A.9
Jacobsen, J.S.10
-
16
-
-
10344253854
-
NARC-1/PCSK9 and its natural mutants: Zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol
-
Benjannet, S., D. Rhainds, R. Essalmani, J. Mayne, L. Wickham, W. Jin, M-C. Asselin, J. Hamelin, M. Varret, D. Allard, et al. 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: 48865-48875.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 48865-48875
-
-
Benjannet, S.1
Rhainds, D.2
Essalmani, R.3
Mayne, J.4
Wickham, L.5
Jin, W.6
Asselin, M.-C.7
Hamelin, J.8
Varret, M.9
Allard, D.10
-
17
-
-
34247605063
-
Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia
-
Cunningham, D., D. E. Danley, K. F. Geoghegan, M. C. Griffor, J. L. Hawkins, T. A. Subashi, A. H. Varghese, M. J. Ammirati, J. S. Culp, L. R. Hoth, et al. 2007. Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia. Nat. Struct. Mol. Biol. 14: 413-419.
-
(2007)
Nat. Struct. Mol. Biol.
, vol.14
, pp. 413-419
-
-
Cunningham, D.1
Danley, D.E.2
Geoghegan, K.F.3
Griffor, M.C.4
Hawkins, J.L.5
Subashi, T.A.6
Varghese, A.H.7
Ammirati, M.J.8
Culp, J.S.9
Hoth, L.R.10
-
18
-
-
34247892364
-
The Crystal Structure of PCSK9: A Regulator of Plasma LDL-Cholesterol
-
DOI 10.1016/j.str.2007.04.004, PII S0969212607001463
-
Piper, D. E., S. Jackson, Q. Liu, W. G. Romanow, S. Shetterly, S. T. Thibault, B. Shan, and N. P. C. Walker. 2007. The crystal structure of PCSK9: a regulator of plasma LDL-cholesterol. Structure. 15: 545-552. (Pubitemid 46702689)
-
(2007)
Structure
, vol.15
, Issue.5
, pp. 545-552
-
-
Piper, D.E.1
Jackson, S.2
Liu, Q.3
Romanow, W.G.4
Shetterly, S.5
Thibault, S.T.6
Shan, B.7
Walker, N.P.C.8
-
19
-
-
35548988009
-
The self-inhibited structure of full-length PCSK9 at 1.9 a reveals structural homology with resistin within the C-terminal domain
-
Hampton, E. N., M. W. Knuth, J. Li, J. L. Harris, S. A. Lesley, and G. Spraggon. 2007. The self-inhibited structure of full-length PCSK9 at 1.9 A reveals structural homology with resistin within the C-terminal domain. Proc. Natl. Acad. Sci. USA. 104: 14604-14609.
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 14604-14609
-
-
Hampton, E.N.1
Knuth, M.W.2
Li, J.3
Harris, J.L.4
Lesley, S.A.5
Spraggon, G.6
-
20
-
-
33750597734
-
Secreted PCSK9 decreases the number of LDL receptors in hepatocytes and in livers of parabiotic mice
-
Lagace, T. A., D. E. Curtis, R. Garuti, M. C. McNutt, S. W. Park, H. B. Prather, N. N. Anderson, Y. K. Ho, R. E. Hammer, and J. D. Horton. 2006. Secreted PCSK9 decreases the number of LDL receptors in hepatocytes and in livers of parabiotic mice. J. Clin. Invest. 116: 2995-3005.
-
(2006)
J. Clin. Invest.
, vol.116
, pp. 2995-3005
-
-
Lagace, T.A.1
Curtis, D.E.2
Garuti, R.3
McNutt, M.C.4
Park, S.W.5
Prather, H.B.6
Anderson, N.N.7
Ho, Y.K.8
Hammer, R.E.9
Horton, J.D.10
-
21
-
-
34547129121
-
PCSK9-dependent LDL receptor regulation: Effects of pH and LDL
-
Fisher, T. S., P. Lo Surdo, S. Pandit, M. Mattu, J. C. Santoro, D. Wisniewski, R. T. Cummings, A. Calzetta, R. M. Cubbon, P. A. Fischer, et al. 2007. PCSK9-dependent LDL receptor regulation: effects of pH and LDL. J. Biol. Chem. 282: 20502-20512.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 20502-20512
-
-
Fisher, T.S.1
Lo Surdo, P.2
Pandit, S.3
Mattu, M.4
Santoro, J.C.5
Wisniewski, D.6
Cummings, R.T.7
Calzetta, A.8
Cubbon, R.M.9
Fischer, P.A.10
-
22
-
-
34548175537
-
Secreted proprotein convertase subtilisin/kexin-type 9 downregulates low-density lipoprotein receptor through receptor-mediated endocytosis
-
Qian, Y-W., R. J. Schmidt, Y. Zhang, S. Chu, A. Lin, H. Wang, X. Wang, T. P. Beyer, W. R. Bensch, W. Li, et al. 2007. Secreted proprotein convertase subtilisin/kexin-type 9 downregulates low-density lipoprotein receptor through receptor-mediated endocytosis. J. Lipid Res. 48: 1488-1498.
-
(2007)
J. Lipid Res.
, vol.48
, pp. 1488-1498
-
-
Qian, Y.-W.1
Schmidt, R.J.2
Zhang, Y.3
Chu, S.4
Lin, A.5
Wang, H.6
Wang, X.7
Beyer, T.P.8
Bensch, W.R.9
Li, W.10
-
23
-
-
34548163845
-
Secreted PCSK9 promotes LDL receptor degradation independently of proteolytic activity
-
DOI 10.1042/BJ20070664
-
Li, J., C. Tumanut, J-A. Gavigan, W-J. Huang, E. N. Hampton, R. Tumanut, K. F. Suen, J. W. Trauger, G. Spraggon, S. A. Lesley, et al. 2007. Secreted PCSK9 promotes LDL receptor degradation independently of proteolytic activity. Biochem. J. 406: 203-207. (Pubitemid 47310950)
-
(2007)
Biochemical Journal
, vol.406
, Issue.2
, pp. 203-207
-
-
Li, J.1
Tumanut, C.2
Gavigan, J.-A.3
Huang, W.-J.4
Hampton, E.N.5
Tumanut, R.6
Suen, K.F.7
Trauger, J.W.8
Spraggon, G.9
Lesley, S.A.10
Liau, G.11
Yowe, D.12
Harris, J.L.13
-
24
-
-
34547137377
-
Catalytic activity is not required for secreted PCSK9 to reduce LDL receptors in HepG2 cells
-
McNutt, M. C., T. A. Lagace, and J. D. Horton. 2007. Catalytic activity is not required for secreted PCSK9 to reduce LDL receptors in HepG2 cells. J. Biol. Chem. 282: 561-568.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 561-568
-
-
McNutt, M.C.1
Lagace, T.A.2
Horton, J.D.3
-
25
-
-
34249021762
-
The cellular trafficking of the secretory proprotein convertase PCSK9 and its dependence on the LDLR
-
DOI 10.1111/j.1600-0854.2007.00562.x
-
Nassoury, N., D. A. Blasiole, A. Tebon Oler, S. Benjannet, J. Hamelin, V. Poupon, P. S. McPherson, A. D. Attie, A. Prat, and N. G. Seidah. 2007. The cellular trafficking of the secretory proprotein convertase PCSK9 and its dependence on the LDLR. Traffic. 8: 718-732. (Pubitemid 46785153)
-
(2007)
Traffic
, vol.8
, Issue.6
, pp. 718-732
-
-
Nassoury, N.1
Blasiole, D.A.2
Tebon Oler, A.3
Benjannet, S.4
Hamelin, J.5
Poupon, V.6
McPherson, P.S.7
Attie, A.D.8
Prat, A.9
Seidah, N.G.10
-
26
-
-
34547108600
-
Binding of PCSK9 to EGF-A repeat of LDL receptor decreases receptor recycling and increases degradation
-
Zhang, D-W., T. A. Lagace, R. Garuti, Z. Zhao, M. McDonald, J. D. Horton, J. C. Cohen, and H. H. Hobbs. 2007. Binding of PCSK9 to EGF-A repeat of LDL receptor decreases receptor recycling and increases degradation. J. Biol. Chem. 282: 18602-18612.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 18602-18612
-
-
Zhang, D.-W.1
Lagace, T.A.2
Garuti, R.3
Zhao, Z.4
McDonald, M.5
Horton, J.D.6
Cohen, J.C.7
Hobbs, H.H.8
-
27
-
-
0027227462
-
Rare earth cryptates and homogeneous fluoroimmunoassays with human sera
-
Mathis, G. 1993. Rare earth cryptates and homogeneous fluoroimmunoassays with human sera. Clin. Chem. 39: 1953-1959.
-
(1993)
Clin. Chem.
, vol.39
, pp. 1953-1959
-
-
Mathis, G.1
-
28
-
-
0029134581
-
Probing molecular interactions with homogeneous techniques based on rare earth cryptates and fluorescence energy transfer
-
Mathis, G. 1995. Probing molecular interactions with homogeneous techniques based on rare earth cryptates and fluorescence energy transfer. Clin. Chem. 41: 1391-1397.
-
(1995)
Clin. Chem.
, vol.41
, pp. 1391-1397
-
-
Mathis, G.1
-
29
-
-
66749130252
-
-
P. E. B. K. D. Waterpaugh, editor. Oxford University Press, Oxford, UK
-
Oldfield, T. J. 1996. Crystallographic Computing 7. P. E. B. K. D. Waterpaugh, editor. Oxford University Press, Oxford, UK.
-
(1996)
Crystallographic Computing 7
-
-
Oldfield, T.J.1
-
30
-
-
0028522982
-
Flexibases: A way to enhance the use of molecular docking methods
-
Kearsley, S. K., D. J. Underwood, R. P. Sheridan, and M. D. Miller. 1994. Flexibases: a way to enhance the use of molecular docking methods. J. Comput. Aided Mol. Des. 8: 565-582.
-
(1994)
J. Comput. Aided Mol. Des.
, vol.8
, pp. 565-582
-
-
Kearsley, S.K.1
Underwood, D.J.2
Sheridan, R.P.3
Miller, M.D.4
-
31
-
-
0001242234
-
MMFF VII. Characterization of MMFF94, MMFF94s, and other widely available force fields for conformational energies and for intermolecular-interaction energies and geometries
-
Thomas, A. H. 1999. MMFF VII. Characterization of MMFF94, MMFF94s, and other widely available force fields for conformational energies and for intermolecular-interaction energies and geometries. J. Comput. Chem. 20: 730-748.
-
(1999)
J. Comput. Chem.
, vol.20
, pp. 730-748
-
-
Thomas, A.H.1
-
32
-
-
9644266673
-
Post-transcriptional regulation of low density lipoprotein receptor protein by proprotein convertase subtilisin/kexin type 9a in mouse liver
-
Park, S. W., Y-A. Moon, and 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: 50630-50638.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 50630-50638
-
-
Park, S.W.1
Moon, Y.-A.2
Horton, J.D.3
-
33
-
-
33646199829
-
Effect of mutations in the PCSK9 gene on the cell surface LDL receptors
-
Cameron, J., O. L. Holla, T. Ranheim, M. A. Kulseth, K. E. Berge, and T. P. Leren. 2006. Effect of mutations in the PCSK9 gene on the cell surface LDL receptors. Hum. Mol. Genet. 15: 1551-1558.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 1551-1558
-
-
Cameron, J.1
Holla, O.L.2
Ranheim, T.3
Kulseth, M.A.4
Berge, K.E.5
Leren, T.P.6
-
34
-
-
42549089208
-
Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species
-
Ding, K., S. J. McDonough, and I. J. Kullo. 2007. Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species. PLoS ONE. 2: e1098.
-
(2007)
PLoS ONE
, vol.2
-
-
Ding, K.1
McDonough, S.J.2
Kullo, I.J.3
-
35
-
-
33750090075
-
The proprotein convertase (PC) PCSK9 is inactivated by furin and/or PC5/6A: Functional consequences of natural mutations and post-translational modifications
-
Benjannet, S., D. Rhainds, J. Hamelin, N. Nassoury, and N. G. Seidah. 2006. The proprotein convertase (PC) PCSK9 is inactivated by furin and/or PC5/6A: functional consequences of natural mutations and post-translational modifications. J. Biol. Chem. 281: 30561-30572.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 30561-30572
-
-
Benjannet, S.1
Rhainds, D.2
Hamelin, J.3
Nassoury, N.4
Seidah, N.G.5
-
36
-
-
41149133845
-
Molecular basis for LDL receptor recognition by PCSK9
-
Kwon, H. J., T. A. Lagace, M. C. McNutt, J. D. Horton, and J. Deisenhofer. 2008. Molecular basis for LDL receptor recognition by PCSK9. Proc. Natl. Acad. Sci. USA. 105: 1820-1825.
-
(2008)
Proc. Natl. Acad. Sci. USA
, vol.105
, pp. 1820-1825
-
-
Kwon, H.J.1
Lagace, T.A.2
McNutt, M.C.3
Horton, J.D.4
Deisenhofer, J.5
|