-
1
-
-
0000869162
-
The mucopolysaccharidosis
-
McGraw-Hill New York
-
Neufeld E, Muenzer J (2001) The mucopolysaccharidosis. In: Scriver C, Beaudet A, Sly W et al (eds) The metabolic and molecular bases of inherited diseases, vol III. McGraw-Hill, New York, pp 3421-3452
-
(2001)
The Metabolic and Molecular Bases of Inherited Diseases III
, pp. 3421-3452
-
-
Neufeld, E.1
Muenzer, J.2
Scriver, C.3
Beaudet, A.4
Sly, W.5
-
2
-
-
33947615114
-
International Morquio A registry: Clinical manifestation and natural course of Morquio A disease
-
AM Montaño S Tomatsu G Gottesman 2007 International Morquio A registry: clinical manifestation and natural course of Morquio A disease J Inherit Metab Dis 30 165 174
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 165-174
-
-
Montaño, A.M.1
Tomatsu, S.2
Gottesman, G.3
-
4
-
-
0031018301
-
Bone marrow transplantation for mucopolysaccharidosis type I: Experience of two British centres
-
A Vellodi EP Young A Cooper 1997 Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres Arch Dis Child 76 92 99
-
(1997)
Arch Dis Child
, vol.76
, pp. 92-99
-
-
Vellodi, A.1
Young, E.P.2
Cooper, A.3
-
5
-
-
40549120620
-
Enzyme replacement therapy in a murine model of Morquio A syndrome
-
S Tomatsu A Montaño A Ohashi 2007 Enzyme replacement therapy in a murine model of Morquio A syndrome Hum Mol Genet 17 815 824
-
(2007)
Hum Mol Genet
, vol.17
, pp. 815-824
-
-
Tomatsu, S.1
Montaño, A.2
Ohashi, A.3
-
6
-
-
0026327213
-
Morquio disease: Isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase
-
S Tomatsu M Fukuda K Masue 1991 Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase Biochem Biophys Res Commun 181 677 683
-
(1991)
Biochem Biophys Res Commun
, vol.181
, pp. 677-683
-
-
Tomatsu, S.1
Fukuda, M.2
Masue, K.3
-
7
-
-
0029094174
-
Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase
-
J Bielicki M Fuller X Guo 1995 Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase Biochem J 311 333 339
-
(1995)
Biochem J
, vol.311
, pp. 333-339
-
-
Bielicki, J.1
Fuller, M.2
Guo, X.3
-
8
-
-
34147098050
-
Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase
-
S Tomatsu A Montaño M Gutiérrez 2007 Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase Mol Genet Metab 91 69 78
-
(2007)
Mol Genet Metab
, vol.91
, pp. 69-78
-
-
Tomatsu, S.1
Montaño, A.2
Gutiérrez, M.3
-
9
-
-
0037509873
-
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases
-
M Cosma P Pepe I Annunziata 2003 The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases Cell 113 445 456
-
(2003)
Cell
, vol.113
, pp. 445-456
-
-
Cosma, M.1
Pepe, P.2
Annunziata, I.3
-
10
-
-
0141922853
-
The human SUMF1 gene required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes
-
J Landgrebe T Dierks B Schamidt 2003 The human SUMF1 gene required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes Gene 316 47 56
-
(2003)
Gene
, vol.316
, pp. 47-56
-
-
Landgrebe, J.1
Dierks, T.2
Schamidt, B.3
-
11
-
-
28844443166
-
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)
-
S Tomatsu A Montaño T Nishioka 2005 Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A) Hum Mutat 26 500 512
-
(2005)
Hum Mutat
, vol.26
, pp. 500-512
-
-
Tomatsu, S.1
Montaño, A.2
Nishioka, T.3
-
12
-
-
34247137829
-
SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies
-
A Fraldi A Biffi A Lombarda 2007 SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies Biochem J 403 305 312
-
(2007)
Biochem J
, vol.403
, pp. 305-312
-
-
Fraldi, A.1
Biffi, A.2
Lombarda, A.3
-
13
-
-
35548941400
-
Functional correction of CNS lesions in MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes
-
A Fraldi H Hemsley A Crawley 2007 Functional correction of CNS lesions in MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes Hum Mol Genet 16 2693 2702
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2693-2702
-
-
Fraldi, A.1
Hemsley, H.2
Crawley, A.3
-
14
-
-
23844537122
-
Coexpression of formylglycine-generating enzyme is essential for synthesis and secretion of functional arylsulfatase A in a mouse model of metachromatic leukodystrophy
-
T Takakusaki S Hisayasu Y Hirai 2005 Coexpression of formylglycine- generating enzyme is essential for synthesis and secretion of functional arylsulfatase A in a mouse model of metachromatic leukodystrophy Hum Gene Ther 16 929 936
-
(2005)
Hum Gene Ther
, vol.16
, pp. 929-936
-
-
Takakusaki, T.1
Hisayasu, S.2
Hirai, Y.3
-
15
-
-
0042526080
-
Gene therapy progress and prospects: Gene therapy of lysosomal storage disorders
-
S Cheng A Smith 2003 Gene therapy progress and prospects: gene therapy of lysosomal storage disorders Gene Ther 10 1275 1281
-
(2003)
Gene Ther
, vol.10
, pp. 1275-1281
-
-
Cheng, S.1
Smith, A.2
-
16
-
-
4544254425
-
Gene therapy for lysosomal storage diseases: The lessons and promise of animal models
-
M Ellinwood C Vite M Haskins 2004 Gene therapy for lysosomal storage diseases: the lessons and promise of animal models J Gene Med 6 481 506
-
(2004)
J Gene Med
, vol.6
, pp. 481-506
-
-
Ellinwood, M.1
Vite, C.2
Haskins, M.3
-
17
-
-
33646195657
-
Cell and gene-based therapies for the lysosomal storage diseases
-
BL Hodges SH Cheng 2006 Cell and gene-based therapies for the lysosomal storage diseases Curr Gene Ther 6 227 241
-
(2006)
Curr Gene Ther
, vol.6
, pp. 227-241
-
-
Hodges, B.L.1
Cheng, S.H.2
-
18
-
-
0036792035
-
Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs
-
KP Ponder JR Melniczek L Xu 2002 Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs Proc Natl Acad Sci USA 99 13102 13107
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 13102-13107
-
-
Ponder, K.P.1
Melniczek, J.R.2
Xu, L.3
-
19
-
-
4444229470
-
Widespread correction of lysosomal storage following intrahepatic injection of a recombinant adeno-associated virus in the adult MPS VII mouse
-
T Sferra K Backstrom C Wang 2004 Widespread correction of lysosomal storage following intrahepatic injection of a recombinant adeno-associated virus in the adult MPS VII mouse Mol Ther 10 478 491
-
(2004)
Mol Ther
, vol.10
, pp. 478-491
-
-
Sferra, T.1
Backstrom, K.2
Wang, C.3
-
20
-
-
34547101208
-
Correction of clinical manifestations of canine mucopolysaccharidosis i with neonatal retroviral vector gene therapy
-
AM Traas P Wang X Ma 2007 Correction of clinical manifestations of canine mucopolysaccharidosis I with neonatal retroviral vector gene therapy Mol Ther 15 1423 1431
-
(2007)
Mol Ther
, vol.15
, pp. 1423-1431
-
-
Traas, A.M.1
Wang, P.2
Ma, X.3
-
21
-
-
3042786281
-
Promoters and control elements: Designing expression cassettes for gene therapy
-
E Papadakis S Nicklin A Baker 2004 Promoters and control elements: designing expression cassettes for gene therapy Curr Gene Ther 4 89 113
-
(2004)
Curr Gene Ther
, vol.4
, pp. 89-113
-
-
Papadakis, E.1
Nicklin, S.2
Baker, A.3
-
22
-
-
0032188992
-
Modulation of plasmid DNA methylation and expression in zebrafish embryons
-
P Collas 1998 Modulation of plasmid DNA methylation and expression in zebrafish embryons Nucleic Acids Res 26 4454 4461
-
(1998)
Nucleic Acids Res
, vol.26
, pp. 4454-4461
-
-
Collas, P.1
-
23
-
-
1942537842
-
Gene therapy progress and prospects: Transcription regulatory systems
-
C Toniatti H Bujard R Cortese 2004 Gene therapy progress and prospects: transcription regulatory systems Gene Ther 11 649 657
-
(2004)
Gene Ther
, vol.11
, pp. 649-657
-
-
Toniatti, C.1
Bujard, H.2
Cortese, R.3
-
24
-
-
3242778717
-
Long-term enzymatic and phenotypic correction in the phenylcetonuria mouse model by adeno-associated virus vector-mediated gene transfer
-
H Hyun-Jeong P Eun-Sook K Seongman 2004 Long-term enzymatic and phenotypic correction in the phenylcetonuria mouse model by adeno-associated virus vector-mediated gene transfer Pediatr Res 56 278 284
-
(2004)
Pediatr Res
, vol.56
, pp. 278-284
-
-
Hyun-Jeong, H.1
Eun-Sook, P.2
Seongman, K.3
-
25
-
-
0035956882
-
Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice
-
S Jung I Han A Limave 2001 Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice Proc Natl Acad Sci USA 98 2676 2681
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 2676-2681
-
-
Jung, S.1
Han, I.2
Limave, A.3
-
26
-
-
19944421734
-
Liver-directed neonatal gene therapy prevents cardiac, bone, ear, and eye disease in mucopolysaccharidosis i mice
-
Y Liu L Xu A Henning 2005 Liver-directed neonatal gene therapy prevents cardiac, bone, ear, and eye disease in mucopolysaccharidosis I mice Mol Ther 11 35 47
-
(2005)
Mol Ther
, vol.11
, pp. 35-47
-
-
Liu, Y.1
Xu, L.2
Henning, A.3
-
27
-
-
0037089331
-
Sustained phenotypic correction of hemophilia B dogs with a factor IX null mutation by liver-direct gene therapy
-
J Mount R Herzog M Tillson 2002 Sustained phenotypic correction of hemophilia B dogs with a factor IX null mutation by liver-direct gene therapy Blood 99 2670 2675
-
(2002)
Blood
, vol.99
, pp. 2670-2675
-
-
Mount, J.1
Herzog, R.2
Tillson, M.3
-
28
-
-
0031838721
-
Adeno-associated viral vector-mediated gene transfer of human blood coagulation factor IX into mouse liver
-
H Nakai R Herzog J Hagstrom 1998 Adeno-associated viral vector-mediated gene transfer of human blood coagulation factor IX into mouse liver Blood 91 4600 4607
-
(1998)
Blood
, vol.91
, pp. 4600-4607
-
-
Nakai, H.1
Herzog, R.2
Hagstrom, J.3
-
29
-
-
0035477896
-
Core promoters: Active contributors to combinatorial gene regulation
-
S Smale 2001 Core promoters: active contributors to combinatorial gene regulation Genes Dev 15 2503 2508
-
(2001)
Genes Dev
, vol.15
, pp. 2503-2508
-
-
Smale, S.1
-
30
-
-
0027960055
-
Sp1 sites in the mouse aprt gene promoter are required to prevent methylation of the CpG island
-
D Mcleod J Chariton J Mullins 1994 Sp1 sites in the mouse aprt gene promoter are required to prevent methylation of the CpG island Genes Dev 8 2282 2292
-
(1994)
Genes Dev
, vol.8
, pp. 2282-2292
-
-
McLeod, D.1
Chariton, J.2
Mullins, J.3
-
31
-
-
0037108159
-
The RNA polymerase II core promoter: A key component in the regulation of gene expression
-
J Butler J Kodonaga 2002 The RNA polymerase II core promoter: a key component in the regulation of gene expression Genes Dev 16 2583 2592
-
(2002)
Genes Dev
, vol.16
, pp. 2583-2592
-
-
Butler, J.1
Kodonaga, J.2
-
32
-
-
0028104109
-
Sp1 elements protect a CpG island from de novo methylation
-
M Brandeis D Frank I Keshet 1994 Sp1 elements protect a CpG island from de novo methylation Nature 371 435 438
-
(1994)
Nature
, vol.371
, pp. 435-438
-
-
Brandeis, M.1
Frank, D.2
Keshet, I.3
-
33
-
-
68149159639
-
Desarrollo de un modelo de vectores usando virus adenoasociados libre de adenovirus para corregir la deficiencia enzimática en las mucopolisacaridosis
-
In: Leimpn S (ed) Iguazú, Argentina
-
Barrera L (2003) Desarrollo de un modelo de vectores usando virus adenoasociados libre de adenovirus para corregir la deficiencia enzimática en las mucopolisacaridosis. In: Leimpn S (ed) Congreso de Errores innatos del Metabolismo y Pesquisa Neonatal, Abstracts, Iguazú, Argentina, p 32
-
(2003)
Congreso de Errores Innatos Del Metabolismo y Pesquisa Neonatal, Abstracts
, pp. 32
-
-
Barrera, L.1
-
34
-
-
0003764437
-
Preparation of recombinant plasmid DNA for DNA-mediated gene transfer
-
1 7 The Humana Press Clifton
-
Aubin R, Weinfeild M, Paterson M (1991) Preparation of recombinant plasmid DNA for DNA-mediated gene transfer. In: Murray EJ (ed) Methods in molecular biology: gene transfer and expression protocols, vol 7, 1st edn. The Humana Press, Clifton, pp 3-13
-
(1991)
Methods in Molecular Biology: Gene Transfer and Expression Protocols
, pp. 3-13
-
-
Aubin, R.1
Weinfeild, M.2
Paterson, M.3
Murray, E.J.4
-
36
-
-
0025135526
-
A fluorometric enzyme assay for the diagnosis of Morquio type A
-
O vanDiggelen H Zhao W Kleijer 1993 A fluorometric enzyme assay for the diagnosis of Morquio type A Clin Chem Acta 187 131 140
-
(1993)
Clin Chem Acta
, vol.187
, pp. 131-140
-
-
Vandiggelen, O.1
Zhao, H.2
Kleijer, W.3
-
37
-
-
33644876958
-
TRANSFAC and its module TRANSCompel: Transcriptional gene regulation in eukaryotes
-
V Matys O Kel-Margoulis E Fricke 2006 TRANSFAC and its module TRANSCompel: transcriptional gene regulation in eukaryotes Nucleic Acids Res 34 D108 D110
-
(2006)
Nucleic Acids Res
, vol.34
-
-
Matys, V.1
Kel-Margoulis, O.2
Fricke, E.3
-
38
-
-
0028293078
-
Mucopolysaccharidosis IV A: Molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5′-flanking region
-
Y Nakashima S Tomatsu T Hori 1994 Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5′-flanking region Genomics 20 99 104
-
(1994)
Genomics
, vol.20
, pp. 99-104
-
-
Nakashima, Y.1
Tomatsu, S.2
Hori, T.3
-
39
-
-
34548761857
-
Existence of transient functional double-stranded DNA intermediates during recombinant AAV transduction
-
J Wang J Xie H Lu 2007 Existence of transient functional double-stranded DNA intermediates during recombinant AAV transduction Proc Natl Acad Sci USA 104 13104 13109
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 13104-13109
-
-
Wang, J.1
Xie, J.2
Lu, H.3
-
40
-
-
21244503122
-
Mechanisms of adeno-associated virus genome encapsidation
-
J Timpe J Bevington J Casper 2005 Mechanisms of adeno-associated virus genome encapsidation Curr Gene Ther 5 273 284
-
(2005)
Curr Gene Ther
, vol.5
, pp. 273-284
-
-
Timpe, J.1
Bevington, J.2
Casper, J.3
-
41
-
-
13644267108
-
Transcriptional silencing is associated with extensive methylation of the CMV promoter following adenoviral gene delivery to muscle
-
A Brooks R Harkins P Wang 2004 Transcriptional silencing is associated with extensive methylation of the CMV promoter following adenoviral gene delivery to muscle J Gene Med 6 395 404
-
(2004)
J Gene Med
, vol.6
, pp. 395-404
-
-
Brooks, A.1
Harkins, R.2
Wang, P.3
-
42
-
-
0035818555
-
Lifetime correction of genetic deficiency in mice with a single injection of helper-dependent adenoviral vector
-
I Kim A Józkowicz P Piedra 2001 Lifetime correction of genetic deficiency in mice with a single injection of helper-dependent adenoviral vector Proc Natl Acad Sci USA 98 13282 13287
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 13282-13287
-
-
Kim, I.1
Józkowicz, A.2
Piedra, P.3
-
43
-
-
30444449938
-
A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme
-
D Roeser A Preusser-Kunze B Scgmidt 2006 A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme Proc Natl Acad Sci USA 103 81 86
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 81-86
-
-
Roeser, D.1
Preusser-Kunze, A.2
Scgmidt, B.3
-
44
-
-
27944489624
-
Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase
-
S Tomatsu M Gutierrez T Nishioka 2005 Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase Hum Mol Genet 14 3321 3335
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3321-3335
-
-
Tomatsu, S.1
Gutierrez, M.2
Nishioka, T.3
-
45
-
-
33747022426
-
Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene
-
S Tomatsu A Montano P Lopez 2006 Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene Mol Genet Metab 89 139 149
-
(2006)
Mol Genet Metab
, vol.89
, pp. 139-149
-
-
Tomatsu, S.1
Montano, A.2
Lopez, P.3
-
46
-
-
34250634886
-
Construction of strong mammalian promoters by random cis-acting element elongation
-
R Ogawa G Kagiya T Kodaki 2007 Construction of strong mammalian promoters by random cis-acting element elongation Biotechniques 42 628 632
-
(2007)
Biotechniques
, vol.42
, pp. 628-632
-
-
Ogawa, R.1
Kagiya, G.2
Kodaki, T.3
-
47
-
-
34249098071
-
Mammalian RNA polymerase II core promoters: Insights from genome-wide studies
-
A Sandelin P Carninci B Lenhard 2007 Mammalian RNA polymerase II core promoters: insights from genome-wide studies Nat Rev Genet 8 424 436
-
(2007)
Nat Rev Genet
, vol.8
, pp. 424-436
-
-
Sandelin, A.1
Carninci, P.2
Lenhard, B.3
-
48
-
-
34249079154
-
Network motifs: Theory and experimental approaches
-
U Alon 2007 Network motifs: theory and experimental approaches Nat Rev Genet 8 450 461
-
(2007)
Nat Rev Genet
, vol.8
, pp. 450-461
-
-
Alon, U.1
|