-
1
-
-
0026314681
-
N-acetylgalactosamine-6-sulfate sulfatase in human placenta: Purification and characteristics
-
Masue, M., Sukegawa, K., Orii, T. and Hashimoto, T. (1991) N-acetylgalactosamine-6-sulfate sulfatase in human placenta: purification and characteristics. J. Biochem. (Tokyo), 110, 965-970.
-
(1991)
J. Biochem. (Tokyo)
, vol.110
, pp. 965-970
-
-
Masue, M.1
Sukegawa, K.2
Orii, T.3
Hashimoto, T.4
-
2
-
-
0026327213
-
Morquio disease: Isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase
-
Tomatsu, S., Fukuda, S., Masue, M., Sukegawa, K., Fukao, T., Yamagishi, A., Hori, T., Iwata, H., Ogawa, T., Nakashima, Y. et al. (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, S.2
Masue, M.3
Sukegawa, K.4
Fukao, T.5
Yamagishi, A.6
Hori, T.7
Iwata, H.8
Ogawa, T.9
Nakashima, Y.10
-
3
-
-
0028293078
-
Mucopolysaccharidosis IV A: Molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5′-flanking region
-
Nakashima, Y., Tomatsu, S., Hori, T., Fukuda, S., Sukegawa, K., Kondo, N., Suzuki, Y., Shimozawa, N. and Orii, T. (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
Fukuda, S.4
Sukegawa, K.5
Kondo, N.6
Suzuki, Y.7
Shimozawa, N.8
Orii, T.9
-
4
-
-
0026733483
-
Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases
-
Fukuda, S., Tomatsu, S., Masue, M., Sukegawa, K., Iwata, H., Ogawa, T., Nakashima, Y., Hori, T., Yamagishi, A., Hanyu, Y. et al. (1992) Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases. J. Clin. Invest., 90, 1049-1053.
-
(1992)
J. Clin. Invest.
, vol.90
, pp. 1049-1053
-
-
Fukuda, S.1
Tomatsu, S.2
Masue, M.3
Sukegawa, K.4
Iwata, H.5
Ogawa, T.6
Nakashima, Y.7
Hori, T.8
Yamagishi, A.9
Hanyu, Y.10
-
5
-
-
0028928337
-
Mucopolysaccharidosis IVA: Screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene
-
Ogawa, T., Tomatsu, S., Fukuda, S., Yamagishi, A., Rezvi, G.M., Sukegawa, K., Kondo, N., Suzuki, Y., Shimozawa, N. and Ori, T. (1995) Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene. Hum. Mol. Genet., 4, 341-349.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 341-349
-
-
Ogawa, T.1
Tomatsu, S.2
Fukuda, S.3
Yamagishi, A.4
Rezvi, G.M.5
Sukegawa, K.6
Kondo, N.7
Suzuki, Y.8
Shimozawa, N.9
Ori, T.10
-
6
-
-
0029065203
-
Mucopolysaccharidosis type IVA: Common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS)
-
Hori, T., Tomatsu, S., Nakashima, Y., Uchiyama, A., Fukuda, S., Sukegawa, K., Shimozawa, N., Suzuki, Y., Kondo, N., Horiuchi, T. et al. (1995) Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS). Genomics, 26, 535-542.
-
(1995)
Genomics
, vol.26
, pp. 535-542
-
-
Hori, T.1
Tomatsu, S.2
Nakashima, Y.3
Uchiyama, A.4
Fukuda, S.5
Sukegawa, K.6
Shimozawa, N.7
Suzuki, Y.8
Kondo, N.9
Horiuchi, T.10
-
7
-
-
0029103415
-
Mucopolysaccharidosis IVA: Identification of a common missense mutation I113F in the N-acetylgalactosamine-6-sulfate sulfatase gene
-
Tomatsu, S., Fukuda, S., Cooper, A., Wraith, J.E., Rezvi, G.M., Yamagishi, A., Yamada, N., Kato, Z., Isogai, K., Sukegawa, K. et al. (1995) Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-acetylgalactosamine-6-sulfate sulfatase gene. Am. J. Hum. Genet., 57, 556-563.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 556-563
-
-
Tomatsu, S.1
Fukuda, S.2
Cooper, A.3
Wraith, J.E.4
Rezvi, G.M.5
Yamagishi, A.6
Yamada, N.7
Kato, Z.8
Isogai, K.9
Sukegawa, K.10
-
8
-
-
0028914368
-
Mucopolysaccharidosis type IVA: Identification of six novel mutations among non-Japanese patients
-
Tomatsu, S., Fukuda, S., Cooper, A., Wraith, J.E., Rezvi, G.M., Yamagishi, A., Yamada, N., Kato, Z., Isogai, K., Sukegawa, K. et al. (1995) Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients. Hum. Mol. Genet., 4, 741-743.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 741-743
-
-
Tomatsu, S.1
Fukuda, S.2
Cooper, A.3
Wraith, J.E.4
Rezvi, G.M.5
Yamagishi, A.6
Yamada, N.7
Kato, Z.8
Isogai, K.9
Sukegawa, K.10
-
9
-
-
0029131527
-
Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease)
-
Tomatsu, S., Fukuda, S., Cooper, A., Wraith, J.E., Yamada, N., Isogai, K., Kato, Z., Sukegawa, K., Kondo, N,, Suzuki, Y. et al. (1995) Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease). Hum. Mutat., 6, 195-196.
-
(1995)
Hum. Mutat.
, vol.6
, pp. 195-196
-
-
Tomatsu, S.1
Fukuda, S.2
Cooper, A.3
Wraith, J.E.4
Yamada, N.5
Isogai, K.6
Kato, Z.7
Sukegawa, K.8
Kondo, N.9
Suzuki, Y.10
-
10
-
-
19144364442
-
Mucopolysaccharidosis IVA: Submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease
-
Fukuda, S., Tomatsu, S., Masuno, M., Ogawa, T., Yamagishi, A., Rezvi, G.M., Sukegawa, K., Shimozawa, N., Suzuki, Y, Kondo, N. et al. (1996) Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease. Hum. Mutat., 7, 123-134.
-
(1996)
Hum. Mutat.
, vol.7
, pp. 123-134
-
-
Fukuda, S.1
Tomatsu, S.2
Masuno, M.3
Ogawa, T.4
Yamagishi, A.5
Rezvi, G.M.6
Sukegawa, K.7
Shimozawa, N.8
Suzuki, Y.9
Kondo, N.10
-
11
-
-
15844396990
-
Mucopolysaccharidosis IVA (Morquio A): Three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene
-
Fukuda, S., Tomatsu, S., Cooper, A., Wraith, J.E., Kato, Z., Yamada, N., Isogai, K., Sukegawa, K., Kondo, N. and Orii, T. (1996) Mucopolysaccharidosis IVA (Morquio A): three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene. Hum. Mutat., 8, 187-190.
-
(1996)
Hum. Mutat.
, vol.8
, pp. 187-190
-
-
Fukuda, S.1
Tomatsu, S.2
Cooper, A.3
Wraith, J.E.4
Kato, Z.5
Yamada, N.6
Isogai, K.7
Sukegawa, K.8
Kondo, N.9
Orii, T.10
-
12
-
-
0029867496
-
Mucopolysaccharidosis IVA: Four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency
-
Tomatsu, S., Fukuda, S., Yamagishi, A., Cooper, A., Wraith, J.F., Hori, T., Kato, Z., Yamada, N., Isogai, K., Sukegawa, K. et al. (1996) Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency. Am. J. Hum. Genet., 58, 950-962.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 950-962
-
-
Tomatsu, S.1
Fukuda, S.2
Yamagishi, A.3
Cooper, A.4
Wraith, J.F.5
Hori, T.6
Kato, Z.7
Yamada, N.8
Isogai, K.9
Sukegawa, K.10
-
13
-
-
16944361912
-
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene
-
Tomatsu, S., Fukuda, S., Cooper, A., Wraith, J.E., Ferreira, P., Di Natale, P., Tortora, P., Fujimoto, A., Kato, Z., Yamada, N. et al. (1997) Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. Hum. Mutat., 10, 368-375.
-
(1997)
Hum. Mutat.
, vol.10
, pp. 368-375
-
-
Tomatsu, S.1
Fukuda, S.2
Cooper, A.3
Wraith, J.E.4
Ferreira, P.5
Di Natale, P.6
Tortora, P.7
Fujimoto, A.8
Kato, Z.9
Yamada, N.10
-
14
-
-
17944387290
-
Fifteen polymorphisms in the N-acetylgatactosamine-6-sulfate sulfatase (GALNS) gene: Diagnostic implications in Morquio disease
-
Tomatsu, S., Fukuda, S., Cooper, A., Wraith, J.E., Yamagishi, A., Kato, Z., Yamada, N., Isogai, K., Sukegawa, K., Suzuki, Y. et al. (1998) Fifteen polymorphisms in the N-acetylgatactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease. Hum. Mutat., Suppl. 1, S42-S46.
-
(1998)
Hum. Mutat.
, Issue.SUPPL. 1
-
-
Tomatsu, S.1
Fukuda, S.2
Cooper, A.3
Wraith, J.E.4
Yamagishi, A.5
Kato, Z.6
Yamada, N.7
Isogai, K.8
Sukegawa, K.9
Suzuki, Y.10
-
15
-
-
0031456443
-
A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA
-
Kato, Z., Fukuda, S., Tomatsu, S., Vega, H., Yasunaga, T., Yamagishi, A., Yamada, N., Valencia, A., Barrera, L.A., Sukegawa, K. et al. (1997) A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA. Hum. Genet., 101, 97-101.
-
(1997)
Hum. Genet.
, vol.101
, pp. 97-101
-
-
Kato, Z.1
Fukuda, S.2
Tomatsu, S.3
Vega, H.4
Yasunaga, T.5
Yamagishi, A.6
Yamada, N.7
Valencia, A.8
Barrera, L.A.9
Sukegawa, K.10
-
16
-
-
16944363304
-
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome
-
Bunge, S., Kleijer, W.J., Tylki-Szymanska, A., Steglich, C., Beck, M., Tomatsu, S., Fukuda, S., Poorthuis, B.J., Czartoryska, B., Orii, T. et al. (1997) Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. Hum. Mutat., 10, 223-232.
-
(1997)
Hum. Mutat.
, vol.10
, pp. 223-232
-
-
Bunge, S.1
Kleijer, W.J.2
Tylki-Szymanska, A.3
Steglich, C.4
Beck, M.5
Tomatsu, S.6
Fukuda, S.7
Poorthuis, B.J.8
Czartoryska, B.9
Orii, T.10
-
17
-
-
6844251004
-
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: Nine novel mutations including T312S, a common allele that confers a mild phenotype
-
Yamada, N., Fukuda, S., Tomatsu, S., Muller, V., Hopwood, J.J., Nelson, J., Kato, Z., Yamagishi, A., Sukegawa, K., Kondo, N. et al. (1998) Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. Hum. Mutat., 11, 202-208.
-
(1998)
Hum. Mutat.
, vol.11
, pp. 202-208
-
-
Yamada, N.1
Fukuda, S.2
Tomatsu, S.3
Muller, V.4
Hopwood, J.J.5
Nelson, J.6
Kato, Z.7
Yamagishi, A.8
Sukegawa, K.9
Kondo, N.10
-
18
-
-
0029130352
-
A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency
-
Schmidt, B., Selmer, T., Ingendoh, A. and von Figura, K. (1995) A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. Cell, 82, 271-278.
-
(1995)
Cell
, vol.82
, pp. 271-278
-
-
Schmidt, B.1
Selmer, T.2
Ingendoh, A.3
von Figura, K.4
-
19
-
-
0029566108
-
A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells
-
Schwenk, F., Baron, U. and Rajewsky, K. (1995) A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells. Nucl. Acids Res., 23, 5080-5081.
-
(1995)
Nucl. Acids Res.
, vol.23
, pp. 5080-5081
-
-
Schwenk, F.1
Baron, U.2
Rajewsky, K.3
-
20
-
-
0037069189
-
Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis
-
Tomatsu, S., Orii, K.O., Vogler, C., Grubb, J.H., Snella, E.M., Gutierrez, M.A., Dieter, T., Sukegawa, K., Orii, T., Kondo, N. et al. (2002) Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis. Proc. Natl Acad. Sci. USA, 99, 14982-14987.
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, pp. 14982-14987
-
-
Tomatsu, S.1
Orii, K.O.2
Vogler, C.3
Grubb, J.H.4
Snella, E.M.5
Gutierrez, M.A.6
Dieter, T.7
Sukegawa, K.8
Orii, T.9
Kondo, N.10
-
21
-
-
0035844147
-
Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate
-
Akama, T.O., Nakayama, J., Nishida, K., Hiraoka, N., Suzuki, M., McAuliffe, J., Hindsgaul, O., Fukuda, M. and Fukuda, M.N. (2001) Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate. J. Biol. Chem., 276, 16271-16278.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 16271-16278
-
-
Akama, T.O.1
Nakayama, J.2
Nishida, K.3
Hiraoka, N.4
Suzuki, M.5
McAuliffe, J.6
Hindsgaul, O.7
Fukuda, M.8
Fukuda, M.N.9
-
22
-
-
0031046840
-
Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase
-
Hahn, C.N., del Pilar, M.M., Schroder, M., Vanier, M.T., Hara, Y., Suzuki, K., Suzuki, K. and d'Azzo, A. (1997) Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase. Hum. Mol. Genet., 6, 205-211.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 205-211
-
-
Hahn, C.N.1
del Pilar, M.M.2
Schroder, M.3
Vanier, M.T.4
Hara, Y.5
Suzuki, K.6
Suzuki, K.7
d'Azzo, A.8
-
23
-
-
0344329883
-
Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis
-
Stinchi, S., Lullmann-Rauch, R., Hartmann, D., Coenen, R., Beccari, T., Orlacchio, A., von Figura, K. and Saftig, P. (1999) Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis. Hum. Mol. Genet., 8, 1365-1372.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1365-1372
-
-
Stinchi, S.1
Lullmann-Rauch, R.2
Hartmann, D.3
Coenen, R.4
Beccari, T.5
Orlacchio, A.6
von Figura, K.7
Saftig, P.8
-
24
-
-
0029113867
-
Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism
-
Sango, K., Yamanaka, S., Hoffmann, A., Okuda, Y., Grinberg, A., Westphal, H., McDonald, M.P., Crawley, J.N., Sandhoff K. and Suzuki, K. (1995) Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nat. Genet., 11, 170-176.
-
(1995)
Nat. Genet.
, vol.11
, pp. 170-176
-
-
Sango, K.1
Yamanaka, S.2
Hoffmann, A.3
Okuda, Y.4
Grinberg, A.5
Westphal, H.6
McDonald, M.P.7
Crawley, J.N.8
Sandhoff, K.9
Suzuki, K.10
-
25
-
-
0013451138
-
Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase
-
Li, H.H., Yu, W.H., Rozengurt, N., Zhao, H.Z., Lyons, K.M., Anagnostaras, S,, Fanselow, M.S., Suzuki, K., Vanier, M.T. and Neufeld, E.F. (1999) Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. Proc. Natl Acad. Sci. USA, 96, 14505-14510.
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 14505-14510
-
-
Li, H.H.1
Yu, W.H.2
Rozengurt, N.3
Zhao, H.Z.4
Lyons, K.M.5
Anagnostaras, S.6
Fanselow, M.S.7
Suzuki, K.8
Vanier, M.T.9
Neufeld, E.F.10
-
26
-
-
0021839434
-
Absence of keratan sulphate from skeletal tissues of mouse and rat
-
Venn, G. and Mason, R.M. (1985) Absence of keratan sulphate from skeletal tissues of mouse and rat. Biochem. J., 228, 443-450.
-
(1985)
Biochem. J.
, vol.228
, pp. 443-450
-
-
Venn, G.1
Mason, R.M.2
-
27
-
-
0026980489
-
Mannose receptor
-
Pontow, S.E., Kery, V. and Stahl, P.D. (1992) Mannose receptor. Int. Rev. Cytol., 137B, 221-244.
-
(1992)
Int. Rev. Cytol.
, vol.137 B
, pp. 221-244
-
-
Pontow, S.E.1
Kery, V.2
Stahl, P.D.3
-
28
-
-
0030899669
-
Murine mucopolysaccharidosis type I: Targeted disruption of the murine alpha-L-iduronidase gene
-
Clarke, L.A., Russell, C.S., Pownall, S., Warrington, C.L., Borowski, A., Dimmick, J.E., Toone, J. and Jirik, F.R. (1997) Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene. Hum. Mol. Genet., 6, 503-511.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 503-511
-
-
Clarke, L.A.1
Russell, C.S.2
Pownall, S.3
Warrington, C.L.4
Borowski, A.5
Dimmick, J.E.6
Toone, J.7
Jirik, F.R.8
-
29
-
-
17144465111
-
A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome)
-
Bhaumik, M., Muller, V.J., Rozaklis, T., Johnson, L., Dobrenis, K., Bhattacharyya, R., Wurzelmann, S., Finamore, P., Hopwood J.J., Walkley, S.U. et al. (1999) A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). Glycobiology, 9, 1389-1396.
-
(1999)
Glycobiology
, vol.9
, pp. 1389-1396
-
-
Bhaumik, M.1
Muller, V.J.2
Rozaklis, T.3
Johnson, L.4
Dobrenis, K.5
Bhattacharyya, R.6
Wurzelmann, S.7
Finamore, P.8
Hopwood, J.J.9
Walkley, S.U.10
-
30
-
-
0029738625
-
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, D.B., Schmahl, W., Hess, B., von Figura, K. and Peters, C. (1996) Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI. Proc. Natl Acad. Sci. USA, 93, 8214-8219.
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 8214-8219
-
-
Evers, M.1
Saftig, P.2
Schmidt, P.3
Hafner, A.4
McLoghlin, D.B.5
Schmahl, W.6
Hess, B.7
von Figura, K.8
Peters, C.9
-
31
-
-
0024524979
-
Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency
-
Birkenmeier, E.H., Davisson, M.T., Beamer, W.G., Ganschow, R.E., Vogler, C.A., Gwynn, B., Lyford, K.A., Maltais, L.M. and Wawrzyniak, C.J. (1989) Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency. J. Clin. Invest., 83, 1258-1256.
-
(1989)
J. Clin. Invest.
, vol.83
, pp. 1256-1258
-
-
Birkenmeier, E.H.1
Davisson, M.T.2
Beamer, W.G.3
Ganschow, R.E.4
Vogler, C.A.5
Gwynn, B.6
Lyford, K.A.7
Maltais, L.M.8
Wawrzyniak, C.J.9
-
32
-
-
0017752809
-
Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-1-iduronidase, by cultured human fibroblasts
-
Sando, G.N. and Neufeld, E.F. (1977) Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-1-iduronidase, by cultured human fibroblasts. Cell, 12, 619-627.
-
(1977)
Cell
, vol.12
, pp. 619-627
-
-
Sando, G.N.1
Neufeld, E.F.2
-
33
-
-
17944397871
-
The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5′-flanking region
-
1500
-
Montano, A.M., Yamagishi, A., Tomatsu, S., Fukuda, S., Copeland, N.G., Orii, K.E., Isogai, K., Yamada, N., Kato, Z.I., Jenkins, N.A. et al. (2000) The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5′-flanking region. Biochim. Biophys. Acta, 1500, 323-334.
-
(2000)
Biochim. Biophys. Acta
, pp. 323-334
-
-
Montano, A.M.1
Yamagishi, A.2
Tomatsu, S.3
Fukuda, S.4
Copeland, N.G.5
Orii, K.E.6
Isogai, K.7
Yamada, N.8
Kato, Z.I.9
Jenkins, N.A.10
-
34
-
-
0000051454
-
Microinjection of a rabbit beta-globin gene into zygotes and its subsequent expression in adult mice and their offspring
-
Wagner, T.E., Hoppe, P.C., Jollick, J.D., Scholl, D.R., Hodinka, R.L. and Gault, J.B. (1981) Microinjection of a rabbit beta-globin gene into zygotes and its subsequent expression in adult mice and their offspring. Proc. Natl Acad. Sci. USA, 78, 6376-6380.
-
(1981)
Proc. Natl. Acad. Sci. USA
, vol.78
, pp. 6376-6380
-
-
Wagner, T.E.1
Hoppe, P.C.2
Jollick, J.D.3
Scholl, D.R.4
Hodinka, R.L.5
Gault, J.B.6
-
35
-
-
0035018190
-
Direct removal in the mouse of a floxed neo gene from a three-loxP conditional knockout allele by two novel approaches
-
Xu, X., Li, C., Garrett-Beal, L., Larson, D., Wynshaw-Boris, A. and Deng, C.X. (2001) Direct removal in the mouse of a floxed neo gene from a three-loxP conditional knockout allele by two novel approaches. Genesis, 30, 1-6.
-
(2001)
Genesis
, vol.30
, pp. 1-6
-
-
Xu, X.1
Li, C.2
Garrett-Beal, L.3
Larson, D.4
Wynshaw-Boris, A.5
Deng, C.X.6
-
36
-
-
0015747997
-
Beta-glucuronidase deficiency mucopolysaccharidosis: Methods for enzymatic diagnosis
-
Glaser, J.H. and Sly, W.S. (1973) Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis. J. Lab. Clin. Med., 82, 969-977.
-
(1973)
J. Lab. Clin. Med.
, vol.82
, pp. 969-977
-
-
Glaser, J.H.1
Sly, W.S.2
-
37
-
-
0018619593
-
Review of the folin phenol protein quantitation method of Lowry, Rosebrough, Farr and Randall
-
Peterson, G.L. (1979) Review of the folin phenol protein quantitation method of Lowry, Rosebrough, Farr and Randall. Anal. Biochem., 100, 201-220.
-
(1979)
Anal. Biochem.
, vol.100
, pp. 201-220
-
-
Peterson, G.L.1
-
38
-
-
0024520993
-
Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion
-
Whitley, C.B., Ridnour, M.D., Draper, K.A., Dutton, C.M. and Neglia, J.P. (1989) Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion. Clin. Chem., 35, 374-379.
-
(1989)
Clin. Chem.
, vol.35
, pp. 374-379
-
-
Whitley, C.B.1
Ridnour, M.D.2
Draper, K.A.3
Dutton, C.M.4
Neglia, J.P.5
-
39
-
-
0028260714
-
Bone marrow transplantation has a significant effect on enzyme levels and storage of glycosaminoglycans in tissues and in isolated hepatocytes of mucopolysaccharidosis type VII mice
-
Poorthuis, B.J., Romme, A.E., Willemsen, R. and Wagemaker, G. (1994) Bone marrow transplantation has a significant effect on enzyme levels and storage of glycosaminoglycans in tissues and in isolated hepatocytes of mucopolysaccharidosis type VII mice. Pediatr Res., 36, 187-193.
-
(1994)
Pediatr. Res.
, vol.36
, pp. 187-193
-
-
Poorthuis, B.J.1
Romme, A.E.2
Willemsen, R.3
Wagemaker, G.4
-
40
-
-
0020529209
-
Identification of a monoclonal antibody that specifically recognizes corneal and skeletal keratan sulfate. Monoclonal antibodies to cartilage proteoglycan
-
Caterson, B., Christner, J.E. and Baker, J.R. (1983) Identification of a monoclonal antibody that specifically recognizes corneal and skeletal keratan sulfate. Monoclonal antibodies to cartilage proteoglycan. J. Biol. Chem., 258, 8848-8854.
-
(1983)
J. Biol. Chem.
, vol.258
, pp. 8848-8854
-
-
Caterson, B.1
Christner, J.E.2
Baker, J.R.3
-
41
-
-
0025139019
-
A murine model of mucopolysaccharidosis VII. Gross and microscopic findings in beta-glucuronidase-deficient mice
-
Vogler, C., Birkenmeier, E.H., Sly, W.S., Levy, B., Pegors, C., Kyle, J.W. and Beamer, W.G. (1990) A murine model of mucopolysaccharidosis VII. Gross and microscopic findings in beta-glucuronidase-deficient mice. Am. J. Pathol., 136, 207-217.
-
(1990)
Am. J. Pathol.
, vol.136
, pp. 207-217
-
-
Vogler, C.1
Birkenmeier, E.H.2
Sly, W.S.3
Levy, B.4
Pegors, C.5
Kyle, J.W.6
Beamer, W.G.7
|