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From Mutation Identification to Therapy: Discovery and Origins of the First Approved Gene Therapy in the Western World

被引：29
作者：
Kastelein, John J. P. [1 ]
Ross, Colin J. D. [2 ,3 ,4 ]
Hayden, Michael R. [3 ,4 ]
机构：
[1] Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands
[2] Univ British Columbia, Dept Pediat, Vancouver, BC V5Z 4H4, Canada
[3] Univ British Columbia, Ctr Mol Med & Therapeut, Child & Family Res Inst, Vancouver, BC V5Z 4H4, Canada
[4] Univ British Columbia, Dept Med Genet, Vancouver, BC V5Z 4H4, Canada
来源：
HUMAN GENE THERAPY | 2013年 / 24卷 / 05期
关键词：
LIPOPROTEIN-LIPASE GENE; CORONARY-ARTERY-DISEASE; LPLS447X BENEFICIAL MUTATION; FRENCH-CANADIAN POPULATION; HDL CHOLESTEROL LEVELS; GUINEA-PIG HEARTS; FAMILIAL HYPERCHOLESTEROLEMIA; CAUSES CHYLOMICRONEMIA; PLASMA-LIPOPROTEINS; DEFICIENT PATIENTS;
D O I：
10.1089/hum.2013.063
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
引用
收藏
页码：472 / 478
页数：7
相关论文
共 64 条
  • [1] BERGERON J, 1992, CLIN GENET, V41, P206
  • [2] Bijvoet S, 1996, J LIPID RES, V37, P640
  • [3] HOMOZYGOSITY FOR A MUTATION IN THE LIPOPROTEIN-LIPASE GENE (GLY(139)-]SER) CAUSES CHYLOMICRONEMIA IN A BOY OF SPANISH DESCENT
    BIJVOET, SM
    BRUIN, T
    TUZGOL, S
    BAKKER, HD
    HAYDEN, MR
    KASTELEIN, JJP
    [J]. HUMAN GENETICS, 1994, 93 (03) : 339 - 343
  • [4] Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250->Asn; Ser251->Cys) resulting in lipoprotein lipase (LPL) deficiency
    Bijvoet, SM
    Wiebusch, H
    Ma, Y
    Reymer, PWA
    Bruin, T
    Bakker, HD
    Funke, H
    Assmann, G
    Hayden, MR
    Kastelein, JJP
    [J]. NETHERLANDS JOURNAL OF MEDICINE, 1996, 49 (05) : 189 - 195
  • [5] T-LYMPHOCYTE-DIRECTED GENE-THERAPY FOR ADA(-) SCID - INITIAL TRIAL RESULTS AFTER 4 YEARS
    BLAESE, RM
    CULVER, KW
    MILLER, AD
    CARTER, CS
    FLEISHER, T
    CLERICI, M
    SHEARER, G
    CHANG, L
    CHIANG, YW
    TOLSTOSHEV, P
    GREENBLATT, JJ
    ROSENBERG, SA
    KLEIN, H
    BERGER, M
    MULLEN, CA
    RAMSEY, WJ
    MUUL, L
    MORGAN, RA
    ANDERSON, WF
    [J]. SCIENCE, 1995, 270 (5235) : 475 - 480
  • [6] A MISSENSE MUTATION PRO157ARG IN LIPOPROTEIN-LIPASE (LPLNIJMEGEN) RESULTING IN LOSS OF CATALYTIC ACTIVITY
    BRUIN, T
    KASTELEIN, JJP
    VANDIERMEN, DE
    MA, YH
    HENDERSON, HE
    STUYT, PMJ
    STALENHOEF, AFH
    STURK, A
    BRUNZELL, JD
    HAYDEN, MR
    [J]. EUROPEAN JOURNAL OF BIOCHEMISTRY, 1992, 208 (02): : 267 - 272
  • [7] BRUIN T, 1994, J LIPID RES, V35, P438
  • [8] Brunzell J.D., 2000, METABOLIC MOL BASES, V8th, P2789
  • [9] Effect of Alipogene Tiparvovec (AAV1-LPLS447X) on Postprandial Chylomicron Metabolism in Lipoprotein Lipase-Deficient Patients
    Carpentier, Andre C.
    Frisch, Frederique
    Labbe, Sebastien M.
    Gagnon, Rene
    de Wal, Janneke
    Greentree, Stephen
    Petry, Harald
    Twisk, Jaap
    Brisson, Diane
    Gaudet, Daniel
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2012, 97 (05) : 1635 - 1644
  • [10] DEVLIN RH, 1990, AM J HUM GENET, V46, P112
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