-
1
-
-
0038538009
-
Studies in metachromatic leukodystrophy XII. Multiple sulfatase deficiency
-
Austin J. Studies in metachromatic leukodystrophy XII. Multiple sulfatase deficiency. Arch. Neurol. 15:1966;13-28.
-
(1966)
Arch. Neurol.
, vol.15
, pp. 13-28
-
-
Austin, J.1
-
2
-
-
0001962515
-
Steroid sulfatase deficiency and X-linked ichthyosis
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, & D. Valle. New York: McGraw-Hill. 4241-4262.pp
-
Ballabio A., Shapiro L.J. Steroid sulfatase deficiency and X-linked ichthyosis. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The Metabolic and Molecular Basis of Inherited Disease. 2001;McGraw-Hill, New York. 4241-4262.pp.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
-
-
Ballabio, A.1
Shapiro, L.J.2
-
3
-
-
0022346377
-
Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency
-
Ballabio A., Parenti G., Napolitano E., Di Natale P., Andria G. Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency. Hum. Genet. 70:1985;315-317.
-
(1985)
Hum. Genet.
, vol.70
, pp. 315-317
-
-
Ballabio, A.1
Parenti, G.2
Napolitano, E.3
Di Natale, P.4
Andria, G.5
-
4
-
-
0026321407
-
Statistical methods for multipoint radiation hybrid mapping
-
Boehnke M., Lange K., Cox D.R. Statistical methods for multipoint radiation hybrid mapping. Am. J. Hum. Genet. 49:1991;1174-1188.
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 1174-1188
-
-
Boehnke, M.1
Lange, K.2
Cox, D.R.3
-
5
-
-
0031568850
-
Structure of a human lysosomal sulfatase
-
Bond C.S., Clements P.R., Ashby S.J., Collyer C.A., Harrop S.J., Hopwood J.J., Guss J.M. Structure of a human lysosomal sulfatase. Structure. 5:1997;277-289.
-
(1997)
Structure
, vol.5
, pp. 277-289
-
-
Bond, C.S.1
Clements, P.R.2
Ashby, S.J.3
Collyer, C.A.4
Harrop, S.J.5
Hopwood, J.J.6
Guss, J.M.7
-
6
-
-
0022972581
-
Multiple sulphatase deficiency presenting at birth
-
Burch M., Fensom A.H., Jackson M., Pitts-Tucker T., Congdon P.J. Multiple sulphatase deficiency presenting at birth. Clin. Genet. 30:1986;409-415.
-
(1986)
Clin. Genet.
, vol.30
, pp. 409-415
-
-
Burch, M.1
Fensom, A.H.2
Jackson, M.3
Pitts-Tucker, T.4
Congdon, P.J.5
-
7
-
-
0038199338
-
Multiple sulfatase deficiency (MSD): Clinical and biochemical studies in two patients
-
Burk R., Valle D., Thomas G., Moser A., Rosembaum K., Schmid K. Multiple sulfatase deficiency (MSD). Clinical and biochemical studies in two patients Am. J. Hum. Genet. 33:1981;72A.
-
(1981)
Am. J. Hum. Genet.
, vol.33
-
-
Burk, R.1
Valle, D.2
Thomas, G.3
Moser, A.4
Rosembaum, K.5
Schmid, K.6
-
8
-
-
0034121656
-
Enzyme replacement therapy in a feline model of MPS VI: Modification of enzyme structure and dose frequency
-
Byers S., Crawley A.C., Brumfield L.K., Nuttall J.D., Hopwood J.J. Enzyme replacement therapy in a feline model of MPS VI. Modification of enzyme structure and dose frequency Pediatr. Res. 47:2000;743-749.
-
(2000)
Pediatr. Res.
, vol.47
, pp. 743-749
-
-
Byers, S.1
Crawley, A.C.2
Brumfield, L.K.3
Nuttall, J.D.4
Hopwood, J.J.5
-
9
-
-
0019214160
-
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts
-
Chang P.L., Davidson R.G. Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts. Proc. Natl. Acad. Sci. USA. 77:1980;6166-6170.
-
(1980)
Proc. Natl. Acad. Sci. USA
, vol.77
, pp. 6166-6170
-
-
Chang, P.L.1
Davidson, R.G.2
-
10
-
-
0023878911
-
Synthesis and stability of steroid sulfatase in fibroblasts from multiple sulfatase deficiency
-
Conary J.T., Hasilik A., von Figura K. Synthesis and stability of steroid sulfatase in fibroblasts from multiple sulfatase deficiency. Biol. Chem. Hoppe Seyler. 369:1988;297-302.
-
(1988)
Biol. Chem. Hoppe Seyler
, vol.369
, pp. 297-302
-
-
Conary, J.T.1
Hasilik, A.2
Von Figura, K.3
-
11
-
-
0035099437
-
In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: Correction of neuropathology and protection against learning impairments in affected mice
-
Consiglio A., Quattrini A., Martino S., Bensadoun J.C., Dolcetta D., Trojani A., Benaglia G., Marchesini S., Cestari V., Oliverio A.et al. In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors. correction of neuropathology and protection against learning impairments in affected mice Nat. Med. 7:2001;310-316.
-
(2001)
Nat. Med.
, vol.7
, pp. 310-316
-
-
Consiglio, A.1
Quattrini, A.2
Martino, S.3
Bensadoun, J.C.4
Dolcetta, D.5
Trojani, A.6
Benaglia, G.7
Marchesini, S.8
Cestari, V.9
Oliverio, A.10
-
12
-
-
0016113839
-
Mucosulfatidosis. Study of 3 familial cases
-
Couchot J., Pluot M., Schmauch M.A., Pennaforte F., Fandre M. Mucosulfatidosis. Study of 3 familial cases. Arch. Fr. Pediatr. 31:1974;775-795.
-
(1974)
Arch. Fr. Pediatr.
, vol.31
, pp. 775-795
-
-
Couchot, J.1
Pluot, M.2
Schmauch, M.A.3
Pennaforte, F.4
Fandre, M.5
-
13
-
-
0031029536
-
Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI
-
Crawley A.C., Niedzielski K.H., Isaac E.L., Davey R.C., Byers S., Hopwood J.J. Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. J. Clin. Invest. 99:1997;651-662.
-
(1997)
J. Clin. Invest.
, vol.99
, pp. 651-662
-
-
Crawley, A.C.1
Niedzielski, K.H.2
Isaac, E.L.3
Davey, R.C.4
Byers, S.5
Hopwood, J.J.6
-
14
-
-
0029012429
-
Construction and characterization of a highly stable human: Rodent monochromosomal hybrid panel for genetic complementation and genome mapping studies
-
Cuthbert A.P., Trott D.A., Ekong R.M., Jezzard S., England N.L., Themis M., Todd C.M., Newbold R.F. Construction and characterization of a highly stable human. rodent monochromosomal hybrid panel for genetic complementation and genome mapping studies Cytogenet. Cell Genet. 71:1995;68-76.
-
(1995)
Cytogenet. Cell Genet.
, vol.71
, pp. 68-76
-
-
Cuthbert, A.P.1
Trott, D.A.2
Ekong, R.M.3
Jezzard, S.4
England, N.L.5
Themis, M.6
Todd, C.M.7
Newbold, R.F.8
-
15
-
-
0032475864
-
Posttranslational formation of formylglycine in prokaryotic sulfatases by modification of either cysteine or serine
-
Dierks T., Miech C., Hummerjohann J., Schmidt B., Kertesz M.A., von Figura K. Posttranslational formation of formylglycine in prokaryotic sulfatases by modification of either cysteine or serine. J. Biol. Chem. 273:1998;25560-25564.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 25560-25564
-
-
Dierks, T.1
Miech, C.2
Hummerjohann, J.3
Schmidt, B.4
Kertesz, M.A.5
Von Figura, K.6
-
16
-
-
0037847425
-
α-formylglycine generating enzyme
-
this issue,
-
α-formylglycine generating enzyme. Cell. 113:2003;435-444. this issue,
-
(2003)
Cell
, vol.113
, pp. 435-444
-
-
Dierks, T.1
Schmidt, B.2
Borissenko, L.V.3
Peng, J.4
Preusser, A.5
Mariappan, M.6
Von Figura, K.7
-
17
-
-
0036922691
-
Molecular and Biochemical characterisation of a novel sulfatase gene: Arylsulfatase G (ARSG)
-
Ferrante P., Messali S., Meroni G., Ballabio A. Molecular and Biochemical characterisation of a novel sulfatase gene. Arylsulfatase G (ARSG) Eur. J. Hum. Genet. 10:2002;813-818.
-
(2002)
Eur. J. Hum. Genet.
, vol.10
, pp. 813-818
-
-
Ferrante, P.1
Messali, S.2
Meroni, G.3
Ballabio, A.4
-
18
-
-
0035861743
-
Characterization of posttranslational formylglycine formation by luminal components of the endoplasmic reticulum
-
Fey J., Balleininger M., Borissenko L.V., Schmidt B., von Figura K., Dierks T. Characterization of posttranslational formylglycine formation by luminal components of the endoplasmic reticulum. J. Biol. Chem. 276:2001;47021-47028.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 47021-47028
-
-
Fey, J.1
Balleininger, M.2
Borissenko, L.V.3
Schmidt, B.4
Von Figura, K.5
Dierks, T.6
-
19
-
-
0028924667
-
A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy
-
Franco B., Meroni G., Parenti G., Levilliers J., Bernard L., Gebbia M., Cox L., Maroteaux P., Sheffield L., Rappold G.A.et al. A cluster of sulfatase genes on Xp22.3. mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy Cell. 81:1995;15-25.
-
(1995)
Cell
, vol.81
, pp. 15-25
-
-
Franco, B.1
Meroni, G.2
Parenti, G.3
Levilliers, J.4
Bernard, L.5
Gebbia, M.6
Cox, L.7
Maroteaux, P.8
Sheffield, L.9
Rappold, G.A.10
-
20
-
-
14044270228
-
Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI
-
Ho T.T., Maguire A.M., Aguirre G.D., Surace E.M., Anand V., Zeng Y., Salvetti A., Hopwood J.J., Haskins M.E., Bennett J. Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI. J. Gene Med. 4:2002;613-621.
-
(2002)
J. Gene Med.
, vol.4
, pp. 613-621
-
-
Ho, T.T.1
Maguire, A.M.2
Aguirre, G.D.3
Surace, E.M.4
Anand, V.5
Zeng, Y.6
Salvetti, A.7
Hopwood, J.J.8
Haskins, M.E.9
Bennett, J.10
-
21
-
-
0001578843
-
Multiple sulfatase deficiency and the nature of the sulfatase family
-
C.R. Scriver, A.L. Beaudet, D. Valle, & W.S. Sly. New York: McGraw-Hill. 3725-3732.pp
-
Hopwood J.J., Ballabio A. Multiple sulfatase deficiency and the nature of the sulfatase family. Scriver C.R., Beaudet A.L., Valle D., Sly W.S. The Metabolic and Molecular Basis of Inherited Disease. 2001;McGraw-Hill, New York. 3725-3732.pp.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
-
-
Hopwood, J.J.1
Ballabio, A.2
-
22
-
-
0018636393
-
Genetic complementation studies of multiple sulfatase deficiency
-
Horwitz A.L. Genetic complementation studies of multiple sulfatase deficiency. Proc. Natl. Acad. Sci. USA. 76:1979;6496-6499.
-
(1979)
Proc. Natl. Acad. Sci. USA
, vol.76
, pp. 6496-6499
-
-
Horwitz, A.L.1
-
23
-
-
0030200702
-
Evaluation of phenotypic alteration by microcell-mediated chromosome transfer
-
Hunt J.D. Evaluation of phenotypic alteration by microcell-mediated chromosome transfer. Anal. Biochem. 238:1996;107-116.
-
(1996)
Anal. Biochem.
, vol.238
, pp. 107-116
-
-
Hunt, J.D.1
-
24
-
-
0030781499
-
Differential elimination of 3p and retention of 3q segments in human/mouse microcell hybrids during tumor growth
-
Imreh S., Kost-Alimova M., Kholodnyuk I., Yang Y., Szeles A., Kiss H., Liu Y., Foster K., Zabarovsky E., Stanbridge E., Klein G. Differential elimination of 3p and retention of 3q segments in human/mouse microcell hybrids during tumor growth. Genes Chromosomes Cancer. 20:1997;224-233.
-
(1997)
Genes Chromosomes Cancer
, vol.20
, pp. 224-233
-
-
Imreh, S.1
Kost-Alimova, M.2
Kholodnyuk, I.3
Yang, Y.4
Szeles, A.5
Kiss, H.6
Liu, Y.7
Foster, K.8
Zabarovsky, E.9
Stanbridge, E.10
Klein, G.11
-
25
-
-
0001245698
-
Metachromatic leukodystrophy and multiple sulfatase deficiency: Sulfatide lipidosis
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, & D. Valle. New York: McGraw-Hill. 2693-2741.pp
-
Kolodny E.H., Fluharty A.L. Metachromatic leukodystrophy and multiple sulfatase deficiency. sulfatide lipidosis Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The Metabolic and Molecular Bases of Inherited Disease. 1995;McGraw-Hill, New York. 2693-2741.pp.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
-
-
Kolodny, E.H.1
Fluharty, A.L.2
-
26
-
-
0032539976
-
Crystal structure of human arylsulfatase A: The aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis
-
Lukatela G., Krauss N., Theis K., Selmer T., Gieselmann V., von Figura K., Saenger W. Crystal structure of human arylsulfatase A. the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis Biochemistry. 37:1998;3654-3664.
-
(1998)
Biochemistry
, vol.37
, pp. 3654-3664
-
-
Lukatela, G.1
Krauss, N.2
Theis, K.3
Selmer, T.4
Gieselmann, V.5
Von Figura, K.6
Saenger, W.7
-
27
-
-
85047699059
-
Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: Effects on visceral and nervous system disease manifestations
-
Matzner U., Hartmann D., Lüllman-Rauch R., Coenen R., Rothert F., Mansson J.E., Fredman P., D'Hooge R., De Deyn P.P., Gieselmann V. Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy. effects on visceral and nervous system disease manifestations Gene Ther. 9:2002;53-63.
-
(2002)
Gene Ther.
, vol.9
, pp. 53-63
-
-
Matzner, U.1
Hartmann, D.2
Lüllman-Rauch, R.3
Coenen, R.4
Rothert, F.5
Mansson, J.E.6
Fredman, P.7
D'Hooge, R.8
De Deyn, P.P.9
Gieselmann, V.10
-
28
-
-
0033943326
-
Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retroviral vector
-
Matzner U., Harzer K., Learish R.D., Barranger J.A., Gieselmann V. Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retroviral vector. Gene Ther. 7:2000;1250-1257.
-
(2000)
Gene Ther.
, vol.7
, pp. 1250-1257
-
-
Matzner, U.1
Harzer, K.2
Learish, R.D.3
Barranger, J.A.4
Gieselmann, V.5
-
29
-
-
0029987932
-
Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region
-
Meroni G., Franco B., Archidiacono N., Messali S., Andolfi G., Rocchi M., Ballabio A. Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. Hum. Mol. Genet. 5:1996;423-431.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 423-431
-
-
Meroni, G.1
Franco, B.2
Archidiacono, N.3
Messali, S.4
Andolfi, G.5
Rocchi, M.6
Ballabio, A.7
-
30
-
-
0037147259
-
Cloning and characterization of two extracellular heparin-degrading endosulfatase in mice and humans
-
Morimoto-Tomita M., Uchimura K., Werb Z., Hemmerich S., Rosen S.D. Cloning and characterization of two extracellular heparin-degrading endosulfatase in mice and humans. J. Biol. Chem. 277:2002;49175-49185.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 49175-49185
-
-
Morimoto-Tomita, M.1
Uchimura, K.2
Werb, Z.3
Hemmerich, S.4
Rosen, S.D.5
-
31
-
-
0000869162
-
The mucopolysaccharidoses
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, & D. Valle. New York: McGraw-Hill. 3421-3452.pp
-
Neufeld E.F., Muenzer J. The mucopolysaccharidoses. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The Metabolic and Molecular Basis of Inherited Disease. 2001;McGraw-Hill, New York. 3421-3452.pp.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
-
-
Neufeld, E.F.1
Muenzer, J.2
-
33
-
-
0034991897
-
Improved helper virus-free packaging system for HSV amplicon vectors using an ICP27-deleted, oversized HSV-1 DNA in a bacterial artificial chromosome
-
Saeki Y., Fraefel C., Ichikawa T., Breakefield X.O., Chiocca E.A. Improved helper virus-free packaging system for HSV amplicon vectors using an ICP27-deleted, oversized HSV-1 DNA in a bacterial artificial chromosome. Mol. Therapy. 3:2001;591-601.
-
(2001)
Mol. Therapy
, vol.3
, pp. 591-601
-
-
Saeki, Y.1
Fraefel, C.2
Ichikawa, T.3
Breakefield, X.O.4
Chiocca, E.A.5
-
34
-
-
0032145321
-
Computational analysis of bacterial sulfatases and their modifying enzymes
-
Schirmer A., Kolter R. Computational analysis of bacterial sulfatases and their modifying enzymes. Chem. Biol. 5:1998;R181-R186.
-
(1998)
Chem. Biol.
, vol.5
-
-
Schirmer, A.1
Kolter, R.2
-
35
-
-
0029130352
-
A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency
-
Schmidt B., Selmer T., Ingendoh A., von Figura K. A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. Cell. 82:1995;271-278.
-
(1995)
Cell
, vol.82
, pp. 271-278
-
-
Schmidt, B.1
Selmer, T.2
Ingendoh, A.3
Von Figura, K.4
-
36
-
-
0024541384
-
Cloning and expression of human arylsulfatase A
-
Stein C., Gieselmann V., Kreysing J., Schmidt B., Pohlmann R., Waheed A., Meyer H.E., O'Brien J.S., von Figura K. Cloning and expression of human arylsulfatase A. J. Biol. Chem. 264:1989;1252-1259.
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 1252-1259
-
-
Stein, C.1
Gieselmann, V.2
Kreysing, J.3
Schmidt, B.4
Pohlmann, R.5
Waheed, A.6
Meyer, H.E.7
O'Brien, J.S.8
Von Figura, K.9
-
37
-
-
0035195967
-
Various cells retrovirally transduced with N-acetylgalactosoamine-6-Sulfate sulfatase correct morquio skin fibroblasts in vitro
-
Toletta G., Severini G.M., Traversari C., Tomatsu S., Sukegawa K., Fukuda S., Kondo N., Tortora P., Bordignon C. Various cells retrovirally transduced with N-acetylgalactosoamine-6-Sulfate sulfatase correct morquio skin fibroblasts in vitro. Hum. Gene Ther. 12:2001;2007-2016.
-
(2001)
Hum. Gene Ther.
, vol.12
, pp. 2007-2016
-
-
Toletta, G.1
Severini, G.M.2
Traversari, C.3
Tomatsu, S.4
Sukegawa, K.5
Fukuda, S.6
Kondo, N.7
Tortora, P.8
Bordignon, C.9
-
38
-
-
0000497407
-
Metachromatic leukodystrophy
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, & D. Valle. New York: McGraw-Hill. 3695-3724.pp
-
Von Figura K., Gieselmann V., Jaeken J. Metachromatic leukodystrophy. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The Metabolic and Molecular Basis of Inherited Disease. 2001;McGraw-Hill, New York. 3695-3724.pp.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
-
-
Von Figura, K.1
Gieselmann, V.2
Jaeken, J.3
-
39
-
-
0034756520
-
An infectious transfer and expression system for genomic DNA loci in human and mouse cells
-
Wade-Martins R., Smith E.R., Tyminski E., Chiocca E.A., Saeki Y. An infectious transfer and expression system for genomic DNA loci in human and mouse cells. Nat. Biotechnol. 19:2001;1067-1070.
-
(2001)
Nat. Biotechnol.
, vol.19
, pp. 1067-1070
-
-
Wade-Martins, R.1
Smith, E.R.2
Tyminski, E.3
Chiocca, E.A.4
Saeki, Y.5
-
40
-
-
0038199334
-
Micropenis and polydactyly associated with multiple sulfatase deficiency
-
Zenger J.L., Rizzo W.B., Bodurtha J.N. Micropenis and polydactyly associated with multiple sulfatase deficiency. Am. J. Hum. Genet. 45:1989;A70.
-
(1989)
Am. J. Hum. Genet.
, vol.45
, pp. 70
-
-
Zenger, J.L.1
Rizzo, W.B.2
Bodurtha, J.N.3
|