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Information on EC 3.1.6.4 - N-acetylgalactosamine-6-sulfatase and Organism(s) Homo sapiens
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EC Tree
3.1.6.4 N-acetylgalactosamine-6-sulfataseSpecify your search results
Word Map
- 3.1.6.4
- mucopolysaccharidosis
- lysosomal
- morquio
- keratan
- glycosaminoglycans
- dysplasia
- chondroitin-6-sulfate
-
sulfatases
- arylsulfatase
-
elosulfase
- n-acetylgalactosamine-4-sulfatase
- medicine
-
kyphoscoliosis
-
odontoid
- sumf1
- synthesis
-
sanfilippo
-
pectus
-
platyspondyly
-
carinatum
-
valgum
The taxonomic range for the selected organisms is: Homo sapiens
The expected taxonomic range for this enzyme is: Eukaryota, Bacteria
The expected taxonomic range for this enzyme is: Eukaryota, Bacteria
Synonyms
galns, n-acetylgalactosamine-6-sulfate sulfatase, n-acetylgalactosamine-6-sulfatase, 6-sulfatase, chondroitin sulfatase, n-acetylgalactosamine 6-sulfatase, galactose-6-sulfatase, galactose-6-sulfate sulfatase, n-acetylgalactosamine 6-sulphate sulphatase, galnac6s sulfatase, 
more
topSYNONYM 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
acetylgalactosamine 6-sulfatase
-
-
-
-
chondroitin sulfatase
-
-
-
-
chondroitinase
-
-
-
-
chondroitinsulfatase
-
-
-
-
galactose-6-sulfate sulfatase
-
-
-
-
GalNAc6S sulfatase
-
-
-
-
GALNS
N-acetylgalactosamine 6-sulfatase
-
-
-
-
N-acetylgalactosamine 6-sulphate sulphatase
-
-
-
-
N-acetylgalactosamine-6-sulfate sulfatase
sulfatase, acetylgalactosamine 6-
-
-
-
-
sulfatase, chondroitin
-
-
-
-
GALNS
-
-
-
-
N-acetylgalactosamine-6-sulfate sulfatase
-
-
-
-
REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
hydrolysis of sulfuric ester
-
-
-
-
PATHWAY SOURCE
PATHWAYS
SYSTEMATIC NAME
IUBMB Comments
N-acetyl-D-galactosamine-6-sulfate 6-sulfohydrolase
-
CAS REGISTRY NUMBER
COMMENTARY
59299-00-2
-
9025-60-9
-
SUBSTRATE
PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate)
(Substrate)
LITERATURE
(Substrate)
(Substrate)
COMMENTARY
(Product)
(Product)
LITERATURE
(Product)
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
4-methylumbelliferyl beta-D-galactoside 6-sulfate + H2O
4-methylumbelliferyl beta-D-galactoside + sulfate
-
-
-
?
4-methylumbelliferyl-beta-D-galactopyranoside-6-sulfate + H2O
4-methylumbelliferyl-beta-D-galactopyranoside + sulfate
-
-
-
-
?
4-methylumbelliferyl-beta-D-galactose-6-sulfate + H2O
4-methylumbelliferyl-beta-D-galactose + sulfate
-
-
-
-
?
4-methylumbelliferyl-beta-D-galactoside-6-sulfate + H2O
4-methylumbelliferyl-beta-D-galactoside + sulfate
-
-
-
?
beta-N-acetyl-D-galactosamine-6-sulfate-(1-4)-beta-D-glucuronic acid-(1-3)-N-acetyl-D-galactosaminitol 6-sulfate + H2O
sulfate + ?
-
-
-
-
?
Gal(6-SO4)beta(1-4)-GlcAc(6-SO4)beta(1-4)-D-galactitol + H2O
sulfate + ?
-
-
-
?
N-acetylgalactosamine 6-sulfate + H2O
N-acetylgalactosamine + sulfate
-
-
-
-
?
N-acetylgalactosamine 6-sulfate-beta(1-4)glucuronic acid-beta(1-3)-N-acetylgalactosaminitol 6-sulfate + H2O
sulfate + ?
-
sulfate is hydrolyzed only from the non-reducing terminal
-
-
?
O-(beta-D-6-sulfo-2-acetamido-2-deoxygalactosyl)-(1-4)-O-beta-D-glucuronosyl-(1-3)-O-beta-D-6-sulfo-2-acetamido-2-deoxy-galactitol + H2O
sulfate + ?
-
-
-
-
?
O-(beta-D-sulfogalactosyl)-(1-4)-1,5-anhydro-D-mannitol 6-sulfate + H2O
?
-
-
-
-
?
sulfated tetrasaccharide + H2O
?
-
sulfated tetrasaccharide obtained by digestion of purified chondroitin 6-sulfate with resticular hyaluronidase
-
-
?
galactose 6-sulfate + H2O
galactose + sulfate
-
in chondroitin sulfate or keratan sulfate
-
?
galactose 6-sulfate + H2O
galactose + sulfate
-
in chondroitin sulfate or keratan sulfate
-
?
additional information
?
-
-
does not hydrolyze sulfate from N-acetylglucosamine 6-sulfate
-
-
?
additional information
?
-
-
enzyme is involved in lysosomal degradation of the glycosaminoglycans keratan sulfate and chondroitin 6-sulfate
-
-
?
additional information
?
-
-
the enzyme catalyzes the first step of intralysosomal keratan sulfate catabolism. In Morquito A syndrome the N-acetylglucosamine 6-sulfate sulfatase deficiency causes the accumulation of keratan sulfate in tissue and results in generalized skeletal dysplasia in affected patients
-
-
?
additional information
?
-
-
enzyme deficiency causes mucopolysaccharidosis type IV, i.e. Morquio A syndrome, an autosomal recessive inborn error, due to accumulation of sulfated glycosaminoglycans in lysosomes, overview
-
-
?
NATURAL SUBSTRATE
NATURAL PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate)
(Substrate)
LITERATURE
(Substrate)
(Substrate)
COMMENTARY
(Product)
(Product)
LITERATURE
(Product)
(Product)
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
additional information
?
-
-
enzyme is involved in lysosomal degradation of the glycosaminoglycans keratan sulfate and chondroitin 6-sulfate
-
-
?
additional information
?
-
-
the enzyme catalyzes the first step of intralysosomal keratan sulfate catabolism. In Morquito A syndrome the N-acetylglucosamine 6-sulfate sulfatase deficiency causes the accumulation of keratan sulfate in tissue and results in generalized skeletal dysplasia in affected patients
-
-
?
additional information
?
-
-
enzyme deficiency causes mucopolysaccharidosis type IV, i.e. Morquio A syndrome, an autosomal recessive inborn error, due to accumulation of sulfated glycosaminoglycans in lysosomes, overview
-
-
?
INHIBITOR
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
1,4-dideoxy-1,4-imino-D-arabinitol-gold
gold glyconanoparticles decorated with the natural iminosugar 1,4-dideoxy-1,4-imino-D-arabinitol, i.e. DAB-1 strongly and selectively inhibit N-acetylgalactosamine-6-sulfatase. The strategy employed allowed the enhancement of the multivalent presentation of the iminosugar onto the surface of gold nanoparticles
ACTIVATING COMPOUND
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
additional information
-
cotransfection with sulfatase modifying factor 1 shows an increment up to 2.6fold in GALNS activity, cells cotransfected with elongation factor 1alpha show GALNS activity continued to increase until day 8 postransfection
-
KM VALUE [mM]
SUBSTRATE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
0.12
N-acetylgalactosamine 6-sulfate-beta(1-4)glucuronic acid-beta(1-3)-N-acetylgalactosaminitol 6-sulfate
-
-
0.012 - 0.015
O-(beta-D-6-sulfo-2-acetamido-2-deoxygalactosyl)-(1-4)-O-beta-D-glucuronosyl-(1-3)-O-beta-D-6-sulfo-2-acetamido-2-deoxy-galactitol
0.012
O-(beta-D-6-sulfo-2-acetamido-2-deoxygalactosyl)-(1-4)-O-beta-D-glucuronosyl-(1-3)-O-beta-D-6-sulfo-2-acetamido-2-deoxy-galactitol
-
liver enzyme
0.015
O-(beta-D-6-sulfo-2-acetamido-2-deoxygalactosyl)-(1-4)-O-beta-D-glucuronosyl-(1-3)-O-beta-D-6-sulfo-2-acetamido-2-deoxy-galactitol
-
recombinant enzyme
0.05
O-(beta-D-sulfogalactosyl)-(1-4)-1,5-anhydro-D-mannitol 6-sulfate
-
liver enzyme
0.096
O-(beta-D-sulfogalactosyl)-(1-4)-1,5-anhydro-D-mannitol 6-sulfate
-
recombinant enzyme
IC50 VALUE [mM]
INHIBITOR
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
SPECIFIC ACTIVITY [µmol/min/mg]
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
pH OPTIMUM
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
3.5 - 4
pH RANGE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
3.3 - 4.2
-
pH 3.0: about 45% of maximal activity, pH 4.2: about 55% of maximal activity, hydrolysis of N-acetylgalactosamine 6-sulfate, 0.02 M acetate buffer
ORGANISM
COMMENTARY
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
-
UniProt
SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
SOURCE
no detectable enzyme amount in Mucopolysaccheridosis type IVA patients
LOCALIZATION
ORGANISM
UNIPROT
COMMENTARY
GeneOntology No.
LITERATURE
SOURCE
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
malfunction
metabolism
modification of expression of the enzyme regulates the content of chondroitin sulfate
physiological function
in prostate stem cells, when N-acetylgalactosamine-4-sulfatase ARSB is reduced by silencing or galactosamine-N-acetyl-6-sulfatase GALNS is increased by overexpression, activity of non-receptor tyrosine phosphatase SHP2 declines, attributable to increased binding of SHP2 with C4S. This leads to increases in phospho-ERK1/2, Myc/Max nuclear DNA binding, DNA methyltransferase (DNMT) activity and expression, and methylation of the Dickkopf Wnt signaling pathway inhibitor (DKK)3 promoter and to reduced DKK3 expression. Since DKK3 negatively regulates Wnt/beta-catenin signaling, silencing of ARSB or overexpression of GALNS increases Wnt/beta-catenin signaling
malfunction
mucopolysaccharidosis IVA, MPS IVA, is an autosomal recessive disorder caused by N-acetylgalactosamine-6-sulfate sulfatase deficiency and leading to lysosomal accumulation of the glycosaminoglycans keratan sulfate and chondroitin-6-sulfate
malfunction
deficiencies of N-acetylgalactosamine-6-sulfatase is associated with the mucopolysaccharidoses
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION
The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable).
The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). GALNS_HUMAN
522
0
58026
Swiss-Prot
Secretory Pathway (Reliability: 1)
A0A1A7UP97_HUMAN
522
0
57968
TrEMBL
Secretory Pathway (Reliability: 1)
B2R6P1_HUMAN
522
0
57954
TrEMBL
Secretory Pathway (Reliability: 1)
PDB
SCOP
CATH
UNIPROT
ORGANISM
MOLECULAR WEIGHT
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
120000
15000
19000
39000
40000
52000 - 53000
-
N204K mutant, precursor protein lacking one carbohydrate chain, SDS-PAGE
57000
-
x * 19000, x * 39000, x * 57000, the active enzyme contains either the 57000 Da polypeptide or disulfide-linked 39000 Da and 19000 Da polypeptides
60000
additional information
-
in normal cells N-acetylgalactosamine-6-sulfate sulfatase is in a 1.27 MDa complex with three other lysosomal hydrolases: beta-galactosidase, alpha-neuraminidase, and cathepsin A
19000
-
x * 19000, x * 39000, x * 57000, the active enzyme contains either the 57000 Da polypeptide or disulfide-linked 39000 Da and 19000 Da polypeptides
39000
-
x * 19000, x * 39000, x * 57000, the active enzyme contains either the 57000 Da polypeptide or disulfide-linked 39000 Da and 19000 Da polypeptides
SUBUNIT
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
?
-
x * 19000, x * 39000, x * 57000, the active enzyme contains either the 57000 Da polypeptide or disulfide-linked 39000 Da and 19000 Da polypeptides
POSTTRANSLATIONAL MODIFICATION
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
glycoprotein
CRYSTALLIZATION (Commentary)
ORGANISM
UNIPROT
LITERATURE
modeling of structure and molecular docking against galactose-6-sulfate, N-acetylgalactosamine-6-sulfate, keratan sulfate, chondroitin-6-sulfate, and the artificial substrate 4-methylumbelliferyl-beta-D-galactopyranoside-6-sulfate. Amino acids involved in ligand interaction correlate with those observed in other human sulfatases, and mutations within the active cavity reduce affinity of all evaluated ligands
PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
A291D
mutation associated with attenuated phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, , in wild-type, A291 has a hydrogen bond with K310
A291T
mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking. In wild-type, A291 has a hydrogen bond with K310. Mutation A291T produces a new hydrogen bond with G301
C79Y
mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking
F97V
-
10fold decrease in enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible
G155R
-
no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible
G168R
mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking
G290S
mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking
G301C
G309R
mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking
H142R
mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking
H166Q
mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking
H236D
mutation associated with an attenuated phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, residue is involved in the ligand-enzyme interaction
I113F
-
no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible
K310N
mutation associated with attenuated phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, , residue is involved in enzyme-ligand interaction
L67M
-
N-acetylgalactosamine-6-sulfatase mutation of a mucopolysaccharidosis type IV tunisian patient
M318R
mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking
N204K
-
decreased enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible
N289S
mutation associated with an attenuated phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, , residue is involved in the ligand-enzyme interaction
P125L
-
no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible
P151L
-
no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible
P77R
R295Q
-
decreased enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible
R386C
-
no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible
R94C
-
no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible
R94G
-
no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible
S162F
-
no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible
S80L
mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking
T312S
-
decreased enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible
V138A
-
no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible
additional information
G301C
-
no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible
G301C
mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking
P77R
-
no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible
P77R
mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking
additional information
-
polymorphism within the GALNS gene, I113F is a missense mutation
additional information
-
N-acetylgalactosamine-6-sulfatase mutations in tunisian patients cause mucopolysaccharidosis type IV, sequence determinations and mutation analysis, polymorphisms, phylogenesis, overview
TEMPERATURE STABILITY
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
GENERAL STABILITY
ORGANISM
UNIPROT
LITERATURE
STORAGE STABILITY
ORGANISM
UNIPROT
LITERATURE
4°C, 25 mM sodium acetate, 1 mM beta-glycerophosphate buffer, pH 5.5, several months, no significant loss of acitivity
-
PURIFICATION (Commentary)
ORGANISM
UNIPROT
LITERATURE
CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
expression in MCF-7 cells. Following overexpression of the enzyme, total sulfated glycosaminoglycans, chondroitin 4-sulfate, and chondroitin sulfates decline significantly
recombinant enzyme expression in Escherichia coli strain BL21 in both soluble and inclusion bodies fractions, rGALNS amounts in inclusion bodies fraction are up to 17fold higher than those observed in the soluble fraction, method optimization, effect of aeration and agitation at bench scale, detailed overview
the GALNS gene is located on chromosome 16q24.3, DNA and amino acid sequence determination and analysis of wild-type and mutant genes
-
EXPRESSION
ORGANISM
UNIPROT
LITERATURE
enzyme activity but not protein content declines after lambda-carrageenan exposure (0.001 mg/l for 48 h)
APPLICATION
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
medicine
synthesis
medicine
-
diagnosis of Morquio disease since extracts of Morquio fibroblasts are devoid of the enzyme
medicine
-
Morquio A is an autosomal recessive disease caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase, leading to the lysosomal accumulation of keratan-sulfate and chondroitin-6-sulfate
medicine
application of a combined assay for defects in iduronate-2-sulfatase (ID2S) leading to mucopolysaccharidosis II, and N-acetylgalactosamine-6-sulfatase (GALN) and N-acetylgalactosamine-4-sulfatase (ARSB) defects related to mucopolysaccharidosis IVA and MPS VI, respectively. The average enzyme activities of ID2S, GALN, and ARSB in random neonates are 19.6, 1.7, and 13.4 micromol/h/l, respectively. The average enzyme activities of ID2S, GALN, and ARSB in disease-affected individuals are 0.5, 0.3, and 0.3 micromol/h/l, respectively
medicine
GALNS activity (nmol/17 h/mg protein) is 0-7.4 in samples from mucopolysaccharidosis type IVA patients, as 19.85-93.7 in their parents and as 38.4-164 in the healthy controls. Statistically significant differences are observed between the three groups in terms of enzyme activity. There are no significant differences in enzyme activity by age. The female subjects in both the patient and parents groups show lower enzyme activity compared to the male subjects
medicine
in human prostate cancer tissues, the N-acetylgalactosamine-4-sulfatase ARSB activity is reduced and the galactosamine-N-acetyl-6-sulfatase GALNS activity is increased, compared to normal prostate tissue
synthesis
production and characterization of an active recombinant N-acetylgalactosamine-6-sulfate sulfatase in Escherichia coli BL21. When native signal peptide is present, higher enzyme activity levels are observed in both soluble and inclusion bodies fractions, and signal peptide removal has a significant impact on enzyme activation. Enzyme activity in the culture media is only detected when signal peptide is presented and the culture is carried out under semi-continuous mode
synthesis
increase of recombinant GALNS activity produced in Escherichia coli is obtained with a promoter regulated under sigmas. Additional improvements are observed when osmotic shock is applied. Overexpression of chaperones has no effect on recombinant GALNS activity. High concentrations of sucrose in conjunction with the physiological-regulated promoter proUmod significantly increase the GALNS production and activity
synthesis
removal of the native signal peptide and coexpression with human formylglycine-generating enzyme SUMF1 in Pichia pastoris allow an improvement of 4.5fold in the specific GALNS activity. Recombinant GALNS shows a high stability at 4°C, while the activity is markedly reduced at 37 and 45°C. Recombinant GALNS is taken-up by HEK-293 cells and human skin fibroblasts in a dose-dependent manner, without any additional protein or host modification
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Gloessl, J.; Truppe, W.; Kresse, H.
Purification and properties of N-acetylgalactosamine 6-sulphate sulphatase from human placenta
Biochem. J.
181
37-46
1979
Homo sapiens
Lim, C.T.; Horwitz, A.L.
Purification and properties of human N-acetylgalactosamine-6-sulfate sulfatase
Biochim. Biophys. Acta
657
344-355
1981
Homo sapiens
Singh, J.; di Ferrante, N.; Niebes, P.; Tavella, D.
N-Acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease
J. Clin. Invest.
57
1036-1040
1976
Homo sapiens
Pshezhetsky, A.V.; Potier, M.
Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate
J. Biol. Chem.
271
28359-28365
1996
Homo sapiens
Bielicki, J.; Fuller, M.; Guo, X.H.; Morris, P.; Hopwood, J.J.; Anson, D.S.
Expression, purification and characterization of recombinant human N-acetylgalactosmaine-6-sulphatase
Biochem. J.
311
333-339
1995
Homo sapiens
-
Masue, M.; Sukegawa, K.; Orii, T.; Hashimoto, T.
N-Acetylgalactosamine-6-sulfate sulfatase in human placenta: purification and characteristics
J. Biochem.
110
965-970
1991
Homo sapiens
Bielicki, J.; Hopwood, J.J.
Human liver N-acetylgalactosamine 6-sulphatase. Purification and characterization
Biochem. J.
279
515-520
1991
Homo sapiens
Tomatsu, S.; Fukuda, S.; Cooper, A.; Wraith, J.E.; Yamagishi, A.; Kato, Z.; Yamada, N.; Isogai, K.; Sukegawa, K.; Suzuki, Y.; Shimozawa, N.; Kondo, N.; Orii, T.
Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease
Hum. Mutat.
Suppl. 1
S42-S46
1998
Homo sapiens
Sukegawa, K.; Nakamura, H.; Kato, Z.; Tomatsu, S.; Montano, A.M.; Fukao, T.; Toietta, G.; Tortora, P.; Orii, T.; Kondo, N.
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes
Hum. Mol. Genet.
9
1283-1290
2000
Homo sapiens
Terzioglu, M.; Tokatli, A.; Coskun, T.; Emre, S.
Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene
Hum. Mutat.
20
477-478
2002
Homo sapiens
Tomatsu, S.; Filocamo, M.; Orii, K.O.; Sly, W.S.; Gutierrez, M.A.; Nishioka, T.; Serrato, O.P.; Di Natale, P.; Montano, A.M.; Yamaguchi, S.; Kondo, N.; Orii, T.; Noguchi, A.
Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients
Hum. Mutat.
24
187-188
2004
Homo sapiens
Laradi, S.; Tukel, T.; Khediri, S.; Shabbeer, J.; Erazo, M.; Chkioua, L.; Chaabouni, M.; Ferchichi, S.; Miled, A.; Desnick, R.J.
Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients
Mol. Genet. Metab.
87
213-218
2006
Homo sapiens
Parkinson-Lawrence, E.J.; Muller, V.J.; Hopwood, J.J.; Brooks, D.A.
N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples
Clin. Chim. Acta
377
88-91
2007
Homo sapiens (P34059), Homo sapiens
Bhattacharyya, S.; Kotlo, K.; Shukla, S.; Danziger, R.S.; Tobacman, J.K.
Distinct effects of N-acetylgalactosamine-4-sulfatase and galactose-6-sulfatase expression on chondroitin sulfates
J. Biol. Chem.
283
9523-9530
2008
Homo sapiens (P34059)
Tomatsu, S.; Montano, A.M.; Gutierrez, M.; Grubb, J.H.; Oikawa, H.; Dung, V.C.; Ohashi, A.; Nishioka, T.; Yamada, M.; Yamada, M.; Tosaka, Y.; Trandafirescu, G.G.; Orii, T.
Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase
Mol. Genet. Metab.
91
69-78
2007
Homo sapiens
Almeciga-Diaz, C.J.; Rueda-Paramo, M.A.; Espejo, A.J.; Echeverri, O.Y.; Montano, A.; Tomatsu, S.; Barrera, L.A.
Effect of elongation factor 1alpha promoter and SUMF1 over in vitro expression of N-acetylgalactosamine-6-sulfate sulfatase
Mol. Biol. Rep.
36
1863-1870
2008
Homo sapiens
Rodriguez, A.; Espejo, A.J.; Hernandez, A.; Velasquez, O.L.; Lizaraso, L.M.; Cordoba, H.A.; Sanchez, O.F.; Almeciga-Diaz, C.J.; Barrera, L.A.
Enzyme replacement therapy for MorquioA: an active recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Escherichia coli BL21
J. Ind. Microbiol. Biotechnol.
37
1193-1201
2010
Homo sapiens (P34059)
Yang, B.; Bhattacharyya, S.; Linhardt, R.; Tobacman, J.
Exposure to common food additive carrageenan leads to reduced sulfatase activity and increase in sulfated glycosaminoglycans in human epithelial cells
Biochimie
94
1309-1316
2012
Homo sapiens (P34059), Homo sapiens
Hernandez, A.; Velasquez, O.; Leonardi, F.; Soto, C.; Rodriguez, A.; Lizaraso, L.; Mosquera, A.; Bohorquez, J.; Coronado, A.; Espejo, A.; Sierra, R.; Sanchez, O.F.; Almeciga-Diaz, C.J.; Barrera, L.A.
Effect of culture conditions and signal peptide on production of human recombinant N-acetylgalactosamine-6-sulfate sulfatase in Escherichia coli BL21
J. Microbiol. Biotechnol.
23
689-698
2013
Homo sapiens (P34059), Homo sapiens
Olarte-Avellaneda, S.; Rodriguez-Lopez, A.; Almeciga-Diaz, C.J.; Barrera, L.A.
Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A
Mol. Biol. Rep.
41
7073-7088
2014
Homo sapiens (P34059), Homo sapiens
Shams, S.; Barazandeh Tehrani, M.; Civallero, G.; Minookherad, K.; Giugliani, R.; Setoodeh, A.; Ashtiani, M.
Diagnosing mucopolysaccharidosis type IV a by the fluorometric assay of N-acetylgalactosamine-6-sulfate sulfatase activity
J. Diabetes Metab. Disord.
16
37
2017
Homo sapiens (P34059), Homo sapiens
Mashima, R.; Ohira, M.; Okuyama, T.; Tatsumi, A.
Quantification of the enzyme activities of iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase and N-acetylgalactosamine-4-sulfatase using liquid chromatography-tandem mass spectrometry
Mol. Genet. Metab. Rep.
14
36-40
2018
Homo sapiens (P34059)
Bhattacharyya, S.; Feferman, L.; Tobacman, J.K.
Chondroitin sulfatases differentially regulate Wnt signaling in prostate stem cells through effects on SHP2, phospho-ERK1/2, and Dickkopf Wnt signaling pathway inhibitor (DKK3)
Oncotarget
8
242-260
2017
Homo sapiens (P34059), Homo sapiens
Matassini, C.; Vanni, C.; Goti, A.; Morrone, A.; Marradi, M.; Cardona, F.
Multimerization of DAB-1 onto Au GNPs affords new potent and selective N-acetylgalactosamine-6-sulfatase (GALNS) inhibitors
Org. Biomol. Chem.
16
8604-8612
2018
Homo sapiens (P34059)
Rodriguez-Lopez, A.; Almeciga-Diaz, C.J.; Sanchez, J.; Moreno, J.; Beltran, L.; Diaz, D.; Pardo, A.; Ramirez, A.M.; Espejo-Mojica, A.J.; Pimentel, L.; Barrera, L.A.
Recombinant human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) produced in the methylotrophic yeast Pichia pastoris
Sci. Rep.
6
29329
2016
Homo sapiens (P34059), Homo sapiens
Reyes, L.; Cardona, C.; Pimentel, L.; Rodriguez-Lopez, A.; Almeciga-Diaz, C.
Improvement in the production of the human recombinant enzyme N-acetylgalactosamine-6-sulfatase (rhGALNS) in Escherichia coli using synthetic biology approaches
Sci. Rep.
7
5844
2017
Homo sapiens (P34059), Homo sapiens
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