-
1
-
-
0000889058
-
α-Galactosidase a deficiency: Fabry disease
-
8th McGraw-Hill New York
-
Desnick R. J., Ionnou Y. A., & Eng C. M. (2001). α- Galactosidase A deficiency: Fabry disease, In Scriver C. R., Beaudet A. L., Sly W. S., & Valle D., Eds., The metabolic and molecular bases of inherited disease, 8th ed. (pp. 3733-3774). New York: McGraw-Hill.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3733-3774
-
-
Desnick, R.J.1
Ionnou, Y.A.2
Eng, C.M.3
Scriver, C.R.4
Beaudet, A.L.5
Sly, W.S.6
Valle, D.7
-
3
-
-
0027300292
-
Fabry's disease: Heterozygous form of different expression in two monozygous twin sisters
-
M. C. Marguery F. Giordano M. Parant G. Samalens T. Levade R. Salvayre A. Maret P. Calvas G. Bourrouillou P. Cantala 1993 Fabry's disease: Heterozygous form of different expression in two monozygous twin sisters Dermatology 187 9 15
-
(1993)
Dermatology
, vol.187
, pp. 9-15
-
-
Marguery, M.C.1
Giordano, F.2
Parant, M.3
Samalens, G.4
Levade, T.5
Salvayre, R.6
Maret, A.7
Calvas, P.8
Bourrouillou, G.9
Cantala, P.10
-
4
-
-
0035667062
-
Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes
-
C. Whybra C. Kampmann I. Willers J. Davies B. Winchester J. Kriegsmann K. Bruhl A. Gal S. Bunge M. Beck 2001 Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes Journal of Inherited Metabolic Disease 24 715 724
-
(2001)
Journal of Inherited Metabolic Disease
, vol.24
, pp. 715-724
-
-
Whybra, C.1
Kampmann, C.2
Willers, I.3
Davies, J.4
Winchester, B.5
Kriegsmann, J.6
Bruhl, K.7
Gal, A.8
Bunge, S.9
Beck, M.10
-
5
-
-
0037109052
-
Long-term systemic therapy of Fabry disease in a knockout mouse by adeno-associated virus-mediated muscle-directed gene transfer
-
H. Takahashi Y. Hirai M. Migita Y. Seino Y. Fukuda H. Sakuraba R. Kase T. Kobayashi Y. Hashimoto 2002 Long-term systemic therapy of Fabry disease in a knockout mouse by adeno-associated virus-mediated muscle-directed gene transfer Proceedings of the National Academy of Sciences of the United States of America 99 13777 13782
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, pp. 13777-13782
-
-
Takahashi, H.1
Hirai, Y.2
Migita, M.3
Seino, Y.4
Fukuda, Y.5
Sakuraba, H.6
Kase, R.7
Kobayashi, T.8
Hashimoto, Y.9
-
7
-
-
0028919110
-
The functional role of glutamine-280 and threonine-282 in human alpha-galactosidase
-
S. Ishii R. Kase H. Sakuraba 1995 The functional role of glutamine-280 and threonine-282 in human alpha-galactosidase Biochimica et Biophysica Acta 1270 163 167
-
(1995)
Biochimica et Biophysica Acta
, vol.1270
, pp. 163-167
-
-
Ishii, S.1
Kase, R.2
Sakuraba, H.3
-
8
-
-
0036000329
-
Correction of the nonlinear dose response improves the viability of adenoviral vectors for gene therapy of Fabry disease
-
R. J. Ziegler C. Li M. Cherry Y. Zhu D. Hempel N. van Rooijen Y. A. Ioannou R. J. Desnick M. A. Goldberg N. S. Yew S. H. Cheng 2002 Correction of the nonlinear dose response improves the viability of adenoviral vectors for gene therapy of Fabry disease Human Gene Therapy 13 935 945
-
(2002)
Human Gene Therapy
, vol.13
, pp. 935-945
-
-
Ziegler, R.J.1
Li, C.2
Cherry, M.3
Zhu, Y.4
Hempel, D.5
Van Rooijen, N.6
Ioannou, Y.A.7
Desnick, R.J.8
Goldberg, M.A.9
Yew, N.S.10
Cheng, S.H.11
-
9
-
-
0035956882
-
Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice
-
S. C. Jung I. P. Han A. Limaye R. Xu M. P. Gelderman P. Zerfas K. Tirumalai G. J. Murray M. J. During R. O. Brady P. Qasba 2001 Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice Proceedings of the National Academy of Sciences of the United States of America 98 2676 2681
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, pp. 2676-2681
-
-
Jung, S.C.1
Han, I.P.2
Limaye, A.3
Xu, R.4
Gelderman, M.P.5
Zerfas, P.6
Tirumalai, K.7
Murray, G.J.8
During, M.J.9
Brady, R.O.10
Qasba, P.11
-
10
-
-
10744219813
-
AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase a and the induction of immune tolerance in Fabry mice
-
R. J. Ziegler S. M. Lonning D. Armentano C. Li D. W. Souza M. Cherry C. Ford C. M. Barbon R. J. Desnick G. Gao J. M. Wilson R. Peluso S. Godwin B. J. Carter R. J. Gregory S. C. Wadworth S. H. Cheng 2004 AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice Molecular Therapy 9 231 240
-
(2004)
Molecular Therapy
, vol.9
, pp. 231-240
-
-
Ziegler, R.J.1
Lonning, S.M.2
Armentano, D.3
Li, C.4
Souza, D.W.5
Cherry, M.6
Ford, C.7
Barbon, C.M.8
Desnick, R.J.9
Gao, G.10
Wilson, J.M.11
Peluso, R.12
Godwin, S.13
Carter, B.J.14
Gregory, R.J.15
Wadworth, S.C.16
Cheng, S.H.17
-
11
-
-
0035989018
-
Adenovirus-transduced lung as a portal for delivering alpha-galactosidase a into systemic circulation for Fabry disease
-
C. Li R. J. Ziegler M. Cherry R. J. Desnick N. S. Yew S. H. Cheng 2002 Adenovirus-transduced lung as a portal for delivering alpha-galactosidase A into systemic circulation for Fabry disease Molecular Therapy 5 745 754
-
(2002)
Molecular Therapy
, vol.5
, pp. 745-754
-
-
Li, C.1
Ziegler, R.J.2
Cherry, M.3
Desnick, R.J.4
Yew, N.S.5
Cheng, S.H.6
-
12
-
-
4043154034
-
Partial correction of the alpha-galactosidase a deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors
-
M. Przybylska I. H. Wu H. Zhao R. J. Ziegler J. D. Tousignant R. J. Desnick R. K. Scheule S. H. Cheng N. S. Yew 2004 Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors Journal of Gene Medicine 6 85 92
-
(2004)
Journal of Gene Medicine
, vol.6
, pp. 85-92
-
-
Przybylska, M.1
Wu, I.H.2
Zhao, H.3
Ziegler, R.J.4
Tousignant, J.D.5
Desnick, R.J.6
Scheule, R.K.7
Cheng, S.H.8
Yew, N.S.9
-
13
-
-
10044223213
-
Bioluminescent imaging of a marking transgene and correction of Fabry mice by neonatal injection of recombinant lentiviral vectors
-
M. Yoshimitsu T. Sato K. Tao J. S. Walia V. I. Rasaiah G. T. Sleep G. J. Murray A. G. Poeppl J. Underwood L. West R. O. Brady J. A. Medin 2004 Bioluminescent imaging of a marking transgene and correction of Fabry mice by neonatal injection of recombinant lentiviral vectors Proceedings of the National Academy of Sciences of the United States of America 101 16909 16914
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, pp. 16909-16914
-
-
Yoshimitsu, M.1
Sato, T.2
Tao, K.3
Walia, J.S.4
Rasaiah, V.I.5
Sleep, G.T.6
Murray, G.J.7
Poeppl, A.G.8
Underwood, J.9
West, L.10
Brady, R.O.11
Medin, J.A.12
-
15
-
-
0033166317
-
Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer
-
R. J. Ziegler N. S. Yew C. Li M. Cherry P. Berthelette H. Romanczuk Y. A. Ioannou K. M. Zeidner R. J. Desnick S. H. Cheng 1999 Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer Human Gene Therapy 10 1667 1682
-
(1999)
Human Gene Therapy
, vol.10
, pp. 1667-1682
-
-
Ziegler, R.J.1
Yew, N.S.2
Li, C.3
Cherry, M.4
Berthelette, P.5
Romanczuk, H.6
Ioannou, Y.A.7
Zeidner, K.M.8
Desnick, R.J.9
Cheng, S.H.10
-
16
-
-
27744437341
-
Promoter dependence of plasmid-pluronics targeted alpha galactosidase a expression in skeletal muscle of Fabry mice
-
M. D. Lavigne M. Pohlschmidt J. F. Novo B. Higgins V. Alakhov H. Lochmuller H. Sakuraba G. Goldspink K. MacDermot D. C. Gorecki 2005 Promoter dependence of plasmid-pluronics targeted alpha galactosidase A expression in skeletal muscle of Fabry mice Molecular Therapy 12 985 990
-
(2005)
Molecular Therapy
, vol.12
, pp. 985-990
-
-
Lavigne, M.D.1
Pohlschmidt, M.2
Novo, J.F.3
Higgins, B.4
Alakhov, V.5
Lochmuller, H.6
Sakuraba, H.7
Goldspink, G.8
MacDermot, K.9
Gorecki, D.C.10
-
18
-
-
0036122659
-
Natural history of Fabry renal disease: Influence of alpha-galactosidase a activity and genetic mutations on clinical course
-
M. H. Branton R. Schiffmann S. G. Sabnis G. J. Murray J. M. Quirk G. Altarescu L. Goldfarb R. O. Brady J. E. Balow H. A. Austin III J. B. Kopp 2002 Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course Medicine 81 122 138
-
(2002)
Medicine
, vol.81
, pp. 122-138
-
-
Branton, M.H.1
Schiffmann, R.2
Sabnis, S.G.3
Murray, G.J.4
Quirk, J.M.5
Altarescu, G.6
Goldfarb, L.7
Brady, R.O.8
Balow, J.E.9
Austin III, H.A.10
Kopp, J.B.11
-
19
-
-
0036207556
-
Kidney-targeted naked DNA transfer by retrograde renal vein injection in rats
-
H. Maruyama N. Higuchi Y. Nishikawa H. Hirahara N. Iino S. Kameda H. Kawachi E. Yaoita F. Gejyo J. Miyazaki 2002 Kidney-targeted naked DNA transfer by retrograde renal vein injection in rats Human Gene Therapy 13 455 468
-
(2002)
Human Gene Therapy
, vol.13
, pp. 455-468
-
-
Maruyama, H.1
Higuchi, N.2
Nishikawa, Y.3
Hirahara, H.4
Iino, N.5
Kameda, S.6
Kawachi, H.7
Yaoita, E.8
Gejyo, F.9
Miyazaki, J.10
-
21
-
-
0025884056
-
Efficient selection for high-expression transfectants with a novel eukaryotic vector
-
H. Niwa K. Yamamura J. Miyazaki 1991 Efficient selection for high-expression transfectants with a novel eukaryotic vector Gene 108 193 199
-
(1991)
Gene
, vol.108
, pp. 193-199
-
-
Niwa, H.1
Yamamura, K.2
Miyazaki, J.3
-
22
-
-
0034628485
-
Continuous erythropoietin delivery by muscle-targeted gene transfer using in vivo electroporation
-
H. Maruyama M. Sugawa Y. Moriguchi I. Imazeki Y. Ishikawa K. Ataka S. Hasegawa Y. Ito N. Higuchi J. J. Kazama F. Gejyo J. Miyazaki 2000 Continuous erythropoietin delivery by muscle-targeted gene transfer using in vivo electroporation Human Gene Therapy 11 429 437
-
(2000)
Human Gene Therapy
, vol.11
, pp. 429-437
-
-
Maruyama, H.1
Sugawa, M.2
Moriguchi, Y.3
Imazeki, I.4
Ishikawa, Y.5
Ataka, K.6
Hasegawa, S.7
Ito, Y.8
Higuchi, N.9
Kazama, J.J.10
Gejyo, F.11
Miyazaki, J.12
-
23
-
-
0028181097
-
Human alpha-galactosidase gene expression: Significance of two peptide regions encoded by exons 1-2 and 6
-
S. Ishii R. Kase H. Sakuraba S. Fujita M. Sugimoto K. Tomita T. Semba Y. Suzuki 1994 Human alpha-galactosidase gene expression: significance of two peptide regions encoded by exons 1-2 and 6 Biochimica et Biophysica Acta 1204 265 270
-
(1994)
Biochimica et Biophysica Acta
, vol.1204
, pp. 265-270
-
-
Ishii, S.1
Kase, R.2
Sakuraba, H.3
Fujita, S.4
Sugimoto, M.5
Tomita, K.6
Semba, T.7
Suzuki, Y.8
-
24
-
-
12644284502
-
Alpha-galactosidase a deficient mice: A model of Fabry disease
-
T. Ohshima G. J. Murray W. D. Swaim G. Longenecker J. M. Quirk C. O. Cardarelli Y. Sugimoto I. Pastan M. M. Gottesman R. O. Brady A. B. Kulkarni 1997 Alpha-galactosidase A deficient mice: A model of Fabry disease Proceedings of the National Academy of Sciences of the United States of America 94 2540 2544
-
(1997)
Proceedings of the National Academy of Sciences of the United States of America
, vol.94
, pp. 2540-2544
-
-
Ohshima, T.1
Murray, G.J.2
Swaim, W.D.3
Longenecker, G.4
Quirk, J.M.5
Cardarelli, C.O.6
Sugimoto, Y.7
Pastan, I.8
Gottesman, M.M.9
Brady, R.O.10
Kulkarni, A.B.11
-
25
-
-
7044284796
-
Transgenic mouse expressing human mutant alpha-galactosidase a in an endogenous enzyme deficient background: A biochemical animal model for studying active-site specific chaperone therapy for Fabry disease
-
S. Ishii H. Yoshioka K. Mannen A. B. Kulkarni J. Q. Fan 2004 Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: A biochemical animal model for studying active-site specific chaperone therapy for Fabry disease Biochimica et Biophysica Acta 1690 250 257
-
(2004)
Biochimica et Biophysica Acta
, vol.1690
, pp. 250-257
-
-
Ishii, S.1
Yoshioka, H.2
Mannen, K.3
Kulkarni, A.B.4
Fan, J.Q.5
-
26
-
-
0033018496
-
Accelerated transport and maturation of lysosomal alpha-galactosidase a in Fabry lymphoblasts by an enzyme inhibitor
-
J. Q. Fan S. Ishii N. Asano Y. Suzuki 1999 Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor Nature Medicine 5 112 115
-
(1999)
Nature Medicine
, vol.5
, pp. 112-115
-
-
Fan, J.Q.1
Ishii, S.2
Asano, N.3
Suzuki, Y.4
-
27
-
-
0019464277
-
Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease
-
J. S. Mayes J. B. Scheerer R. N. Sifers M.L. Donaldson 1981 Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease Clinica Chimica Acta. 112 245 251
-
(1981)
Clinica Chimica Acta.
, vol.112
, pp. 245-251
-
-
Mayes, J.S.1
Scheerer, J.B.2
Sifers, R.N.3
Donaldson, M.L.4
-
28
-
-
0019767282
-
Testosterone effects on the induction and urinary excretion of mouse kidney glycosphingolipids associated with lysosomes
-
R. H. McCluer M. A. Williams S. K. Gross M. H. Meisler 1981 Testosterone effects on the induction and urinary excretion of mouse kidney glycosphingolipids associated with lysosomes Journal of Biological Chemistry 256 13112 13120
-
(1981)
Journal of Biological Chemistry
, vol.256
, pp. 13112-13120
-
-
McCluer, R.H.1
Williams, M.A.2
Gross, S.K.3
Meisler, M.H.4
-
30
-
-
0035163539
-
Fabry disease: Preclinical studies demonstrate the effectiveness of alpha-galactosidase a replacement in enzyme-deficient mice
-
Y. A. Ioannou K. M. Zeidner R. E. Gordon R. J. Desnick 2001 Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice American Journal of Human Genetics 68 14 25
-
(2001)
American Journal of Human Genetics
, vol.68
, pp. 14-25
-
-
Ioannou, Y.A.1
Zeidner, K.M.2
Gordon, R.E.3
Desnick, R.J.4
-
32
-
-
0013192938
-
A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease
-
K. Lee X. Jin K. Zhang L. Copertino L. Andrews J. Baker-Malcolm L. Geagan H. Qiu K. Seiger D. Barngrover J. M. McPherson T. Edmunds 2003 A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease Glycobiology 13 305 313
-
(2003)
Glycobiology
, vol.13
, pp. 305-313
-
-
Lee, K.1
Jin, X.2
Zhang, K.3
Copertino, L.4
Andrews, L.5
Baker-Malcolm, J.6
Geagan, L.7
Qiu, H.8
Seiger, K.9
Barngrover, D.10
McPherson, J.M.11
Edmunds, T.12
-
33
-
-
0033761804
-
Adeno-associated virus vectors for gene therapy: More pros than cons?
-
P. E. R. J. Monahan Samulski 2000 Adeno-associated virus vectors for gene therapy: More pros than cons? Molecular Medicine Today 6 433 440
-
(2000)
Molecular Medicine Today
, vol.6
, pp. 433-440
-
-
Monahan Samulski, P.E.R.J.1
-
35
-
-
1442299241
-
The molecular defect leading to Fabry disease: Structure of human alpha-galactosidase
-
S. C. D. N. Garman Garboczi 2004 The molecular defect leading to Fabry disease: structure of human alpha-galactosidase Journal of Molecular Biology 337 319 335
-
(2004)
Journal of Molecular Biology
, vol.337
, pp. 319-335
-
-
Garman Garboczi, S.C.D.N.1
-
36
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
R. Schiffmann J. B. Kopp H. A. Austin S. Sabnis D. F. Moore T. Weibel J. E. Balow R. O. Brady 2001 Enzyme replacement therapy in Fabry disease: a randomized controlled trial JAMA-Journal of the American Medical Association 285 2743 2749
-
(2001)
JAMA-Journal of the American Medical Association
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin, H.A.3
Sabnis, S.4
Moore, D.F.5
Weibel, T.6
Balow, J.E.7
Brady, R.O.8
-
38
-
-
0036436320
-
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy
-
B. L. Thurberg H. Rennke R. B. Colvin S. Dikman R. E. Gordon A. B. Collins R. J. Desnick M. O'callaghan 2002 Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy Kidney International 62 1933 1946
-
(2002)
Kidney International
, vol.62
, pp. 1933-1946
-
-
Thurberg, B.L.1
Rennke, H.2
Colvin, R.B.3
Dikman, S.4
Gordon, R.E.5
Collins, A.B.6
Desnick, R.J.7
O'Callaghan, M.8
-
39
-
-
4444333780
-
Glomerular ultrafiltration, in Elements of normal renal structure and function, vol. 1
-
WB Saunders Philadelphia
-
Maddox D. A. & Brenner, B. M. (2000). Glomerular ultrafiltration, in Elements of normal renal structure and function, vol. 1. In Brenner B. M. (Ed.), Brenner & Rector's The kidney 7th ed. (pp. 353-412). Philadelphia: WB Saunders.
-
(2000)
Brenner & Rector's the Kidney 7th Ed
, pp. 353-412
-
-
Maddox Brenner, D.A.B.M.1
Brenner, B.M.2
-
40
-
-
3042815553
-
Naked DNA transfer of Factor VIII induced transgene-specific, species-independent immune response in hemophilia a mice
-
P. Ye A. R. Thompson R. Sarkar Z. Shen D. P. Lillicrap R. J. Kaufman H. D. Ochs D. J. Rawlings C. H. Miao 2004 Naked DNA transfer of Factor VIII induced transgene-specific, species-independent immune response in hemophilia A mice Molecular Therapy 10 117 126
-
(2004)
Molecular Therapy
, vol.10
, pp. 117-126
-
-
Ye, P.1
Thompson, A.R.2
Sarkar, R.3
Shen, Z.4
Lillicrap, D.P.5
Kaufman, R.J.6
Ochs, H.D.7
Rawlings, D.J.8
Miao, C.H.9
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