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BRENDA support

Literature summary for 3.1.6.12 extracted from

  • Harmatz, P.; Yu, Z.F.; Giugliani, R.; Schwartz, I.V.; Guffon, N.; Teles, E.L.; Miranda, M.C.; Wraith, J.E.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; Hopwood, J.J.; Plecko, B.; Steiner, R.; Whitley, C.B.; Kaplan, P.; Swiedler, S.J.; Hardy, K.; Berger, K.I.; Decker, C.
    Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase (2010), J. Inherit. Metab. Dis., 33, 51-60.
    View publication on PubMedView publication on EuropePMC

Application

Application Comment Organism
medicine usage of ASB for enzyme replacement therapy in mucopolysaccharidosis type VI, overview Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
lysosome
-
Homo sapiens 5764
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining

Synonyms

Synonyms Comment Organism
arylsulfatase B
-
Homo sapiens
ASB
-
Homo sapiens
N-acetylgalactosamine 4-sulfatase
-
Homo sapiens

General Information

General Information Comment Organism
malfunction mucopolysaccharidosis type VI, i.e. MPS VI or Maroteaux-Lamy syndrome, is a lysosomal storage disease in which deficient activity of the enzyme N-acetylgalactosamine 4-sulfatase impairs the stepwise degradation of the glycosaminoglycan dermatan sulfate Homo sapiens