Gene Review:
ARSB - arylsulfatase B
Homo sapiens
Synonyms:
ASB, Arylsulfatase B, G4S, MPS6, N-acetylgalactosamine-4-sulfatase
- Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Litjens, T., Hopwood, J.J. Hum. Mutat. (2001)
- Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. Karageorgos, L., Harmatz, P., Simon, J., Pollard, A., Clements, P.R., Brooks, D.A., Hopwood, J.J. Hum. Mutat. (2004)
- Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity. Jin, W.D., Jackson, C.E., Desnick, R.J., Schuchman, E.H. Am. J. Hum. Genet. (1992)
- Structure of the human arylsulfatase B gene. Modaressi, S., Rupp, K., von Figura, K., Peters, C. Biol. Chem. Hoppe-Seyler (1993)
- Arylsulfatase B of human lung. Isolation, characterization, and interaction with slow-reacting substance of anaphylaxis. Wasserman, S.I., Austen, K.F. J. Clin. Invest. (1976)
- Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation. Krivit, W., Pierpont, M.E., Ayaz, K., Tsai, M., Ramsay, N.K., Kersey, J.H., Weisdorf, S., Sibley, R., Snover, D., McGovern, M.M. N. Engl. J. Med. (1984)
- Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes. Crawley, A.C., Yogalingam, G., Muller, V.J., Hopwood, J.J. J. Clin. Invest. (1998)
- Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. Crawley, A.C., Niedzielski, K.H., Isaac, E.L., Davey, R.C., Byers, S., Hopwood, J.J. J. Clin. Invest. (1997)
- Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy. Fillat, C., Simonaro, C.M., Yeyati, P.L., Abkowitz, J.L., Haskins, M.E., Schuchman, E.H. J. Clin. Invest. (1996)
- Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients. Litjens, T., Brooks, D.A., Peters, C., Gibson, G.J., Hopwood, J.J. Am. J. Hum. Genet. (1996)
- Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B. Wicker, G., Prill, V., Brooks, D., Gibson, G., Hopwood, J., von Figura, K., Peters, C. J. Biol. Chem. (1991)
- Measurements from normal umbilical cord blood of four lysosomal enzymatic activities: alpha-L-iduronidase (Hurler), galactocerebrosidase (globoid cell leukodystrophy), arylsulfatase A (metachromatic leukodystrophy), arylsulfatase B (Maroteaux-Lamy). deGasperi, R., Raghavan, S.S., Sosa, M.G., Kolodny, E.H., Carrier, C., Rubenstein, P., Peters, C., Wagner, J., Kurtzberg, J., Krivit, W. Bone Marrow Transplant. (2000)
- Synthesis of pyrene derivatives of cerebroside sulfate and their use for determining arylsulfatase A activity. Marchesini, S., Viani, P., Cestaro, B., Gatt, S. Biochim. Biophys. Acta (1989)
- Isolation of human eosinophil phospholipase D. Kater, L.A., Goetzl, E.J., Austen, K.F. J. Clin. Invest. (1976)
- Regional localization of alpha-galactosidase (GLA) to Xpter----q22, hexosaminidase B (HEXB) to 5q13----qter, and arylsulfatase B (ARSB) to 5pter----q13. Fox, M.F., DuToit, D.L., Warnich, L., Retief, A.E. Cytogenet. Cell Genet. (1984)
- Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. Isbrandt, D., Arlt, G., Brooks, D.A., Hopwood, J.J., von Figura, K., Peters, C. Am. J. Hum. Genet. (1994)
- Three-dimensional structures of sulfatases. Ghosh, D. Meth. Enzymol. (2005)
- Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B. Peters, C., Schmidt, B., Rommerskirch, W., Rupp, K., Zühlsdorf, M., Vingron, M., Meyer, H.E., Pohlmann, R., von Figura, K. J. Biol. Chem. (1990)
- Properties of sulfatases in cultured skin fibroblasts of multiple sulfatase deficient patients. Yutaka, T., Okada, S., Kato, T., Inui, K., Yabuuchi, H. Clin. Genet. (1981)
- Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Azevedo, A.C., Schwartz, I.V., Kalakun, L., Brustolin, S., Burin, M.G., Beheregaray, A.P., Leistner, S., Giugliani, C., Rosa, M., Barrios, P., Marinho, D., Esteves, P., Valadares, E., Boy, R., Horovitz, D., Mabe, P., da Silva, L.C., de Souza, I.C., Ribeiro, M., Martins, A.M., Palhares, D., Kim, C.A., Giugliani, R. Clin. Genet. (2004)
- Conversion of cysteine to formylglycine in eukaryotic sulfatases occurs by a common mechanism in the endoplasmic reticulum. Dierks, T., Lecca, M.R., Schmidt, B., von Figura, K. FEBS Lett. (1998)
- Amino acid residues forming the active site of arylsulfatase A. Role in catalytic activity and substrate binding. Waldow, A., Schmidt, B., Dierks, T., von Bülow, R., von Figura, K. J. Biol. Chem. (1999)
- Structure of a human lysosomal sulfatase. Bond, C.S., Clements, P.R., Ashby, S.J., Collyer, C.A., Harrop, S.J., Hopwood, J.J., Guss, J.M. Structure (1997)
- The sulfatase gene family: cross-species PCR cloning using the MOPAC technique. Grompe, M., Pieretti, M., Caskey, C.T., Ballabio, A. Genomics (1992)
- A specific ultrastructural stain for arylsulfatase A activity in human cultured fibroblasts. Chang, P.L., Moudgil, G. J. Histochem. Cytochem. (1984)
- Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1. Jackson, C.E., Yuhki, N., Desnick, R.J., Haskins, M.E., O'Brien, S.J., Schuchman, E.H. Genomics (1992)
- N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI. Simonaro, C.M., Schuchman, E.H. Biochim. Biophys. Acta (1995)
- Components and proteolytic processing sites of arylsulfatase B from human placenta. Kobayashi, T., Honke, K., Jin, T., Gasa, S., Miyazaki, T., Makita, A. Biochim. Biophys. Acta (1992)