Reference on EC 3.10.1.1 - N-sulfoglucosamine sulfohydrolase and Organism(s) Homo sapiens
Please use the Reference Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
topREF. 
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Kresse, H.
Mucopolysaccharidosis III A (sanfilipo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes
Biochem. Biophys. Res. Commun.
54
1111-1118
1973
Homo sapiens, Mammalia
Paschke, E.; Kresse, H.
Multiple forms of 2-deoxy-D-glucoside-2-sulphamate sulphohydrolase from human placenta
Biochem. J.
181
677-684
1978
Homo sapiens, Mammalia
Mahuran, D.; Clements, P.; Hopwood, J.J.
A rapid four column purification of 2-deoxy-D-glucoside-2-sulphamate sulphohydrolase from human liver
Biochim. Biophys. Acta
757
359-365
1983
Homo sapiens, Mammalia
Freeman, C.; Hopwood, J.J.
Human liver sulphamate sulphohydrolase. Determination of native protein and subunit Mr values and influence of substrate aglycone structure on catalytic properties
Biochem. J.
234
83-92
1986
Homo sapiens, Mammalia
Bielicki, J.; Hopwood, J.J.; Melville, E.L.; Anson, D.S.
Recombinant human sulphamidase: expression, amplification, purification and characterization
Biochem. J.
329
145-150
1998
Homo sapiens
Perkins, K.J; Byers, S.; Yogalingam, G; Weber, B.; Hopwood, J.J.
Expression and characterization of wild typ and mutant recombinant human sulfamidase. Implications for sanfilippo (mucopolysaccharidosis IIIA) syndrome
J. Biol. Chem.
274
37193-37199
1999
Homo sapiens
Anson, D.S.; Bielicki, J.
Sulphamidase
Int. J. Biochem. Cell Biol.
31
363-367
1999
Homo sapiens
Gabrielli, O.; Coppa, G.V.; Bruni, S.; Villani, G.R.; Pontarelli, G.; di Natale, P.
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene
Am. J. Med. Genet. A
133
85-89
2005
Homo sapiens
Muschol, N.; Storch, S.; Ballhausen, D.; Beesley, C.; Westermann, J.C.; Gal, A.; Ullrich, K.; Hopwood, J.J.; Winchester, B.; Braulke, T.
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A
Hum. Mutat.
23
559-566
2004
Homo sapiens (P51688), Homo sapiens
Savas, P.S.; Hemsley, K.M.; Hopwood, J.J.
Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA
Mol. Genet. Metab.
82
273-285
2004
Homo sapiens
Montfort, M.; Garrido, E.; Hopwood, J.J.; Grinberg, D.; Chabas, A.; Vilageliu, L.
Expression and functional characterization of human mutant sulfamidase in insect cells
Mol. Genet. Metab.
83
246-251
2004
Homo sapiens
Gliddon, B.L.; Hopwood, J.J.
Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice
Pediatr. Res.
56
65-72
2004
Homo sapiens
Hemsley, K.M.; Beard, H.; King, B.M.; Hopwood, J.J.
Effect of high dose, repeated intra-CSF injection of sulphamidase on neuropathology in MPS IIIA mice
Genes Brain Behav.
7
740-753
2008
Homo sapiens
Meyer, A.; Kossow, K.; Gal, A.; Steglich, C.; Muehlhausen, C.; Ullrich, K.; Braulke, T.; Muschol, N.
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
Hum. Mutat.
29
770
2008
Homo sapiens
Hemsley, K.M.; King, B.; Hopwood, J.J.
Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice
Mol. Genet. Metab.
90
313-328
2007
Homo sapiens
Urayama, A.; Grubb, J.H.; Sly, W.S.; Banks, W.A.
Mannose 6-phosphate receptor-mediated transport of sulfamidase across the blood-brain barrier in the newborn mouse
Mol. Ther.
16
1261-1266
2008
Homo sapiens (P51688), Mus musculus
Muschol, N.; Pohl, S.; Meyer, A.; Gal, A.; Ullrich, K.; Braulke, T.
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome
Am. J. Med. Genet. A
155A
1634-1639
2011
Homo sapiens
Sidhu, N.S.; Schreiber, K.; Proepper, K.; Becker, S.; Uson, I.; Sheldrick, G.M.; Gaertner, J.; Kraetzner, R.; Steinfeld, R.
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA
Acta Crystallogr. Sect. D
70
1321-1335
2014
Homo sapiens (P51688)
Whyte, L.; Hopwood, J.; Hemsley, K.; Lau, A.
Variables influencing fluorimetric N-sulfoglucosamine sulfohydrolase (SGSH) activity measurement in brain homogenates
Mol. Genet. Metab. Rep.
5
60-62
2015
Homo sapiens, Mus musculus, Mus musculus C57BL/6
Maccari, F.; Sorrentino, N.C.; Mantovani, V.; Galeotti, F.; Fraldi, A.; Volpi, N.
Glycosaminoglycan levels and structure in a mucopolysaccharidosis IIIA mice and the effect of a highly secreted sulfamidase engineered to cross the blood-brain barrier
Metab. Brain Dis.
32
203-210
2017
Homo sapiens (P51688), Homo sapiens
Jones, S.A.; Breen, C.; Heap, F.; Rust, S.; de Ruijter, J.; Tump, E.; Marchal, J.P.; Pan, L.; Qiu, Y.; Chung, J.K.; Nair, N.; Haslett, P.A.; Barbier, A.J.; Wijburg, F.A.
A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA
Mol. Genet. Metab.
118
198-205
2016
Homo sapiens (P51688), Homo sapiens
Wijburg, F.A.; Whitley, C.B.; Muenzer, J.; Gasperini, S.; Del Toro, M.; Muschol, N.; Cleary, M.; Sevin, C.; Shapiro, E.; Bhargava, P.; Kerr, D.; Alexanderian, D.
Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A A phase IIb randomized trial
Mol. Genet. Metab.
126
121-130
2019
Homo sapiens (P51688), Homo sapiens
