-
2
-
-
0028876076
-
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo a syndrome
-
H.S. Scott, L. Blanch, X.H. Guo, C. Freeman, A. Orsborn, E. Baker, G.R. Sutherland, C.P. Morris, and J.J. Hopwood Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome Nat. Genet. 11 1995 465 467
-
(1995)
Nat. Genet.
, vol.11
, pp. 465-467
-
-
Scott, H.S.1
Blanch, L.2
Guo, X.H.3
Freeman, C.4
Orsborn, A.5
Baker, E.6
Sutherland, G.R.7
Morris, C.P.8
Hopwood, J.J.9
-
3
-
-
0030608186
-
Structure and sequence of the human sulphamidase gene
-
L.E. Karageorgos, X.H. Guo, L. Blanch, B. Weber, D.S. Anson, H.S. Scott, and J.J. Hopwood Structure and sequence of the human sulphamidase gene DNA Res. 3 1996 269 271
-
(1996)
DNA Res.
, vol.3
, pp. 269-271
-
-
Karageorgos, L.E.1
Guo, X.H.2
Blanch, L.3
Weber, B.4
Anson, D.S.5
Scott, H.S.6
Hopwood, J.J.7
-
4
-
-
0031973038
-
Recombinant human sulphamidase: Expression, amplification, purification and characterization
-
J. Bielicki, J.J. Hopwood, E.L. Melville, and D.S. Anson Recombinant human sulphamidase: expression, amplification, purification and characterization Biochem. J. 329 1998 145 150
-
(1998)
Biochem. J.
, vol.329
, pp. 145-150
-
-
Bielicki, J.1
Hopwood, J.J.2
Melville, E.L.3
Anson, D.S.4
-
5
-
-
0022514951
-
Human liver sulphamate sulphohydrolase. Determinations of native protein and subunit Mr values and influence of substrate agylcone structure on catalytic properties
-
C. Freeman, and J.J. Hopwood Human liver sulphamate sulphohydrolase. Determinations of native protein and subunit Mr values and influence of substrate agylcone structure on catalytic properties Biochem. J. 234 1986 83 92
-
(1986)
Biochem. J.
, vol.234
, pp. 83-92
-
-
Freeman, C.1
Hopwood, J.J.2
-
6
-
-
0033601221
-
Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome
-
K.J. Perkins, S. Byers, G. Yogalingam, B. Weber, and J.J. Hopwood Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome J. Biol. Chem. 274 1999 37193 37199
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 37193-37199
-
-
Perkins, K.J.1
Byers, S.2
Yogalingam, G.3
Weber, B.4
Hopwood, J.J.5
-
8
-
-
0035929342
-
Heparan N-sulfatase: Cysteine 70 plays a role in the enzyme catalysis and processing
-
A. Daniele, and P. Di Natale Heparan N-sulfatase: cysteine 70 plays a role in the enzyme catalysis and processing FEBS Lett. 505 2001 445 448
-
(2001)
FEBS Lett.
, vol.505
, pp. 445-448
-
-
Daniele, A.1
Di Natale, P.2
-
9
-
-
0029130352
-
A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency
-
B. Schmidt, T. Selmer, A. Ingendoh, and F.K. von Figura 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, F.K.4
-
10
-
-
0031568850
-
Structure of a human lysosomal sulfatase
-
C.S. Bond, P.R. Clements, S.J. Ashby, C.A. Collyer, S.J. Harrop, J.J. Hopwood, and J.M. Guss 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
-
11
-
-
0035341266
-
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type a patients: Possible single origin for 1091delC mutation
-
A. Chabás, M. Montfort, M. Martinez-Campos, A. Diaz, M.J. Coll, D. Grinberg, and L. Vilageliu Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation Am. J. Med. Genet. 100 2001 223 228
-
(2001)
Am. J. Med. Genet.
, vol.100
, pp. 223-228
-
-
Chabás, A.1
Montfort, M.2
Martinez-Campos, M.3
Diaz, A.4
Coll, M.J.5
Grinberg, D.6
Vilageliu, L.7
-
12
-
-
0034810802
-
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications
-
G. Yogalingam, and J.J. Hopwood Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: diagnostic, clinical, and biological implications Hum. Mutat. 18 2001 264 281
-
(2001)
Hum. Mutat.
, vol.18
, pp. 264-281
-
-
Yogalingam, G.1
Hopwood, J.J.2
-
13
-
-
0033559988
-
Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 Gaucher disease
-
M.E. Grace, P.P. Ashton, G.M. Pastores, A. Soni, and R.J. Desnick Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 Gaucher disease J. Clin. Invest. 103 1999 817 823
-
(1999)
J. Clin. Invest.
, vol.103
, pp. 817-823
-
-
Grace, M.E.1
Ashton, P.P.2
Pastores, G.M.3
Soni, A.4
Desnick, R.J.5
-
14
-
-
0033773239
-
Purification and characterization of human alpha-galactosidase a expressed in insect cells using a baculovirus vector
-
Y. Chen, M. Jin, L. Goodrich, G. Smith, G. Coppola, and D.H. Calhoun Purification and characterization of human alpha-galactosidase A expressed in insect cells using a baculovirus vector Protein Expr. Purif. 20 2000 228 236
-
(2000)
Protein Expr. Purif.
, vol.20
, pp. 228-236
-
-
Chen, Y.1
Jin, M.2
Goodrich, L.3
Smith, G.4
Coppola, G.5
Calhoun, D.H.6
-
15
-
-
0344643423
-
Human acid sphingomyelinase
-
S. Lansmann, C.G. Schuette, O. Bartelsen, J. Hoernschemeyer, T. Linke, J. Weisgerber, and K. Sandhoff Human acid sphingomyelinase Eur. J. Biochem. 270 2003 1076 1088
-
(2003)
Eur. J. Biochem.
, vol.270
, pp. 1076-1088
-
-
Lansmann, S.1
Schuette, C.G.2
Bartelsen, O.3
Hoernschemeyer, J.4
Linke, T.5
Weisgerber, J.6
Sandhoff, K.7
-
16
-
-
0031683895
-
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type a patients
-
M. Montfort, L. Vilageliu, N. Garcia-Giralt, S. Guidi, M.J. Coll, A. Chabás, and D. Grinberg Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients Hum. Mutat. 12 1998 274 279
-
(1998)
Hum. Mutat.
, vol.12
, pp. 274-279
-
-
Montfort, M.1
Vilageliu, L.2
Garcia-Giralt, N.3
Guidi, S.4
Coll, M.J.5
Chabás, A.6
Grinberg, D.7
-
17
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
J.T. den Dunnen, and S.E. Antonarakis Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion Hum. Mutat. 15 2000 7 12
-
(2000)
Hum. Mutat.
, vol.15
, pp. 7-12
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
18
-
-
2642562168
-
Functional analysis of 13 mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms
-
M. Montfort, A. Chabás, L. Vilageliu, and D. Grinberg Functional analysis of 13 mutant alleles identified in Gaucher disease patients: pathogenic changes and "modifier" polymorphisms Hum. Mutat. 23 2004 567 575
-
(2004)
Hum. Mutat.
, vol.23
, pp. 567-575
-
-
Montfort, M.1
Chabás, A.2
Vilageliu, L.3
Grinberg, D.4
-
19
-
-
0029887180
-
A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type a (MPS IIIA)
-
E.A. Karpova, V. Voznyi Ya, J.L. Keulemans, A.T. Hoogeveen, B. Winchester, I.V. Tsvetkova, and O.P. van Diggelen A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA) J. Inherit. Metab. Dis. 19 1996 278 285
-
(1996)
J. Inherit. Metab. Dis.
, vol.19
, pp. 278-285
-
-
Karpova, E.A.1
Voznyi Ya, V.2
Keulemans, J.L.3
Hoogeveen, A.T.4
Winchester, B.5
Tsvetkova, I.V.6
Van Diggelen, O.P.7
-
21
-
-
0032191473
-
Expression of heterologous proteins in stable insect cell culture
-
T.A. Pfeifer Expression of heterologous proteins in stable insect cell culture Curr. Opin. Biotechnol. 9 1998 518 521
-
(1998)
Curr. Opin. Biotechnol.
, vol.9
, pp. 518-521
-
-
Pfeifer, T.A.1
-
22
-
-
0027209690
-
Efficient generation of infectious recombinant baculoviruses by site-specific transposon-mediated insertion of foreign genes into baculovirus genome propagated in Escherichia coli
-
V.A. Luckow, S.C. Lee, G.F. Barry, and P.O. Olins Efficient generation of infectious recombinant baculoviruses by site-specific transposon-mediated insertion of foreign genes into baculovirus genome propagated in Escherichia coli J. Virol. 67 1993 4566 4579
-
(1993)
J. Virol.
, vol.67
, pp. 4566-4579
-
-
Luckow, V.A.1
Lee, S.C.2
Barry, G.F.3
Olins, P.O.4
-
23
-
-
2642547512
-
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III a
-
N. Muschol, S. Storch, D. Ballhausen, C. Beesley, J.C. Westermann, A. Gal, K. Ulrich, J.J. Hopwood, B. Winchester, and T. Braulke Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A Hum. Mutat. 23 2004 559 566
-
(2004)
Hum. Mutat.
, vol.23
, pp. 559-566
-
-
Muschol, N.1
Storch, S.2
Ballhausen, D.3
Beesley, C.4
Westermann, J.C.5
Gal, A.6
Ulrich, K.7
Hopwood, J.J.8
Winchester, B.9
Braulke, T.10
-
24
-
-
0034656211
-
Heparan N-sulfatase gene: Two novel mutations and transient expression of 15 defects
-
S. Esposito, N. Balzano, A. Daniele, G. Villani, K. Perkins, B. Weber, J.J. Hopwood, and N.P. Di Natale Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects Biochim. Biophys. Acta 1501 2000 1 11
-
(2000)
Biochim. Biophys. Acta
, vol.1501
, pp. 1-11
-
-
Esposito, S.1
Balzano, N.2
Daniele, A.3
Villani, G.4
Perkins, K.5
Weber, B.6
Hopwood, J.J.7
Di Natale, N.P.8
-
25
-
-
0033825028
-
Mutational analysis of Sanfilippo syndrome type a (MPS IIIA): Identification of 13 novel mutations
-
C.E. Beesley, E.P. Young, A. Vellodi, and B.G. Winchester Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations J. Med. Genet. 37 2000 704 707
-
(2000)
J. Med. Genet.
, vol.37
, pp. 704-707
-
-
Beesley, C.E.1
Young, E.P.2
Vellodi, A.3
Winchester, B.G.4
-
26
-
-
0031956682
-
Identification of molecular defects in Italian Sanfilippo a patients including 13 novel mutations
-
P. Di Natale, N. Balzano, S. Esposito, and G. Villani Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations Hum. Mutat. 11 1998 313 320
-
(1998)
Hum. Mutat.
, vol.11
, pp. 313-320
-
-
Di Natale, P.1
Balzano, N.2
Esposito, S.3
Villani, G.4
-
27
-
-
0036524324
-
Identification and characterization of mutations underlying Sanfilippo syndrome type a (mucopolysaccharidosis type IIIA)
-
G.J. Lee Chen, S.P. Lin, M.H. Ko, C.K. Chuang, C.P. Chen, H.H. Lee, S.C. Cheng, C.H. Shen, K.L. Tseng, and C.L. Li Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) Clin. Genet. 61 2002 192 197
-
(2002)
Clin. Genet.
, vol.61
, pp. 192-197
-
-
Lee Chen, G.J.1
Lin, S.P.2
Ko, M.H.3
Chuang, C.K.4
Chen, C.P.5
Lee, H.H.6
Cheng, S.C.7
Shen, C.H.8
Tseng, K.L.9
Li, C.L.10
-
28
-
-
0036903078
-
An adult Japanese Sanfilippo a patient with novel compound heterozygous S347F and D444G mutations in the sulphamidase gene
-
T. Miyazaki, N. Masuda, M. Waragai, Y. Motoyoshi, K. Kurokawa, and T. Yuasa An adult Japanese Sanfilippo A patient with novel compound heterozygous S347F and D444G mutations in the sulphamidase gene J. Neurol. Neurosurg. Psychiatry 73 2002 776 778
-
(2002)
J. Neurol. Neurosurg. Psychiatry
, vol.73
, pp. 776-778
-
-
Miyazaki, T.1
Masuda, N.2
Waragai, M.3
Motoyoshi, Y.4
Kurokawa, K.5
Yuasa, T.6
-
29
-
-
0042832453
-
Late-onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo a syndrome
-
J.L.K. Van Hove, R.A. Wevers, J. Van Cleemput, P. Moerman, R. Sciot, G. Matthijs, E. Schollen, J.G.N. de Jong, W.F. Carey, V. Muller, C. Nicholls, K. Perkins, and J.J. Hopwood Late-onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome Am. J. Med. Genet. 118 2003 382 387
-
(2003)
Am. J. Med. Genet.
, vol.118
, pp. 382-387
-
-
Van Hove, J.L.K.1
Wevers, R.A.2
Van Cleemput, J.3
Moerman, P.4
Sciot, R.5
Matthijs, G.6
Schollen, E.7
De Jong, J.G.N.8
Carey, W.F.9
Muller, V.10
Nicholls, C.11
Perkins, K.12
Hopwood, J.J.13
|