Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.
about
Human liver N-acetylglucosamine-6-sulphate sulphatase. Catalytic propertiesImpaired degradation of keratan sulphate by Morquio A fibroblastsVariant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificityQSulf1 remodels the 6-O sulfation states of cell surface heparan sulfate proteoglycans to promote Wnt signalingSanfilippo syndrome: causes, consequences, and treatmentsA cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatasesPurification of a 75 kDa protein from the organelle matrix of human neutrophils and identification as N-acetylglucosamine-6-sulphatase.Substrate specificity and domain functions of extracellular heparan sulfate 6-O-endosulfatases, QSulf1 and QSulf2.Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses.Biochemical and histopathological studies on patients with mucopolysaccharidoses, two of whom had been treated by fibroblast transplantationThe constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses: Case report.Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC.QSulf1, a heparan sulfate 6-O-endosulfatase, inhibits fibroblast growth factor signaling in mesoderm induction and angiogenesisEpidemiology of mucopolysaccharidoses.Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes.Mortality in patients with Sanfilippo syndrome.Human liver N-acetylglucosamine-6-sulphate sulphatase. Purification and characterizationHuman glucosamine-6-sulphatase deficiency. Diagnostic enzymology towards heparin-derived trisaccharide substrates.Expression, purification and characterization of recombinant caprine N-acetylglucosamine-6-sulphatase.Synthesis of 6'-sulfodisaccharides by beta-N-acetylhexosaminidase-catalyzed transglycosylation.MPS IIID - Sanfilippo syndrome DUltrastructural and biochemical aspects of the Sanfilippo syndrome,--type III genetic mucopolysaccharidosis.
P2860
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P2860
Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.
description
1980 nî lūn-bûn
@nan
1980年の論文
@ja
1980年学术文章
@wuu
1980年学术文章
@zh-cn
1980年学术文章
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1980年学术文章
@zh-my
1980年学术文章
@zh-sg
1980年學術文章
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1980年學術文章
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1980年學術文章
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name
Sanfilippo disease type D: def ...... r heparan sulfate degradation.
@ast
Sanfilippo disease type D: def ...... r heparan sulfate degradation.
@en
type
label
Sanfilippo disease type D: def ...... r heparan sulfate degradation.
@ast
Sanfilippo disease type D: def ...... r heparan sulfate degradation.
@en
prefLabel
Sanfilippo disease type D: def ...... r heparan sulfate degradation.
@ast
Sanfilippo disease type D: def ...... r heparan sulfate degradation.
@en
P2093
P2860
P356
P1476
Sanfilippo disease type D: def ...... r heparan sulfate degradation.
@en
P2093
P2860
P304
P356
10.1073/PNAS.77.11.6822
P407
P577
1980-11-01T00:00:00Z