Enzyme replacement and enhancement therapies: Lessons from lysosomal disorders

被引：210

作者：

Desnick, RJ ^{[1
]}

Schuchman, EH ^{[1
]}

机构：

[1] NYU, Mt Sinai Sch Med, Dept Human Genet, New York, NY 10029 USA

来源：

NATURE REVIEWS GENETICS | 2002年 / 3卷 / 12期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/nrg963

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The past decade has witnessed remarkable advances in our ability to treat inherited metabolic disorders, especially the lysosomal storage diseases, a group of more than 40 disorders, each of which is caused by the deficiency of a lysosomal enzyme or protein. During the past few years, both enzyme replacement and enhancement therapies have been developed to treat these disorders. This review discusses the successes and shortcomings of these therapeutic strategies, and the contributions that they have made to treating lysosomal storage diseases.

引用

页码：954 / 966

页数：13

共 114 条

[41] Safety and efficacy of recombinant human α-galactosidase a replacement therapy in Fabry's disease.
Eng, CM
Guffon, N
Wilcox, WR
Germain, DP
Lee, P
Waldek, S
Caplan, L
Linthorst, GE
Desnick, RJ
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 2001, 345 (01) : 9 - 16
[42] Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI
Evers, M
Saftig, P
Schmidt, P
Hafner, A
McLoghlin, DB
Schmahl, W
Hess, B
vonFigura, K
Peters, C
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (16) : 8214 - 8219
[43] Accelerated transport and maturation of lysosomal α-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor
Fan, JQ
Ishii, S
Asano, N
Suzuki, Y
[J]. NATURE MEDICINE, 1999, 5 (01) : 112 - 115
[44] Brief report: Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy.
Frustaci, A
Chimenti, C
Ricci, R
Natale, L
Russo, MA
Pieroni, M
Eng, CM
Desnick, RJ
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 2001, 345 (01) : 25 - 32
[45] ENZYME THERAPY IN TYPE-1 GAUCHER DISEASE - COMPARATIVE EFFICACY OF MANNOSE-TERMINATED GLUCOCEREBROSIDASE FROM NATURAL AND RECOMBINANT SOURCES
GRABOWSKI, GA
BARTON, NW
PASTORES, G
DAMBROSIA, JM
BANERJEE, TK
MCKEE, MA
PARKER, C
SCHIFFMANN, R
HILL, SC
BRADY, RO
[J]. ANNALS OF INTERNAL MEDICINE, 1995, 122 (01) : 33 - 39
[46] Enzyme therapy for Gaucher disease: the first 5 years
Grabowski, GA
Leslie, N
Wenstrup, R
[J]. BLOOD REVIEWS, 1998, 12 (02) : 115 - 133
[47] ER-associated degradation in protein quality control and cellular regulation
Hampton, RY
[J]. CURRENT OPINION IN CELL BIOLOGY, 2002, 14 (04) : 476 - 482
[48] Harmatz P, 2002, AM J HUM GENET, V71, P582
[49] Phenotype of arylsulfatase A-deficient mice: Relationship to human metachromatic leukodystrophy
Hess, B
Saftig, P
Hartmann, D
Coenen, R
LullmannRauch, R
Goebel, HH
Evers, M
vonFigura, K
DHooge, R
Nagels, G
DeDeyn, P
Peters, C
Gieselmann, V
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (25) : 14821 - 14826
[50] HYPOTHESIS FOR I-CELL DISEASE - DEFECTIVE HYDROLASES THAT DO NOT ENTER LYSOSOMES
HICKMAN, S
NEUFELD, EF
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1972, 49 (04) : 992 - &

← 1 2 3 4 5 6 7 8 9 10 →