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Disease relevance of Mucopolysaccharidoses


Psychiatry related information on Mucopolysaccharidoses


High impact information on Mucopolysaccharidoses


Chemical compound and disease context of Mucopolysaccharidoses


Biological context of Mucopolysaccharidoses


Anatomical context of Mucopolysaccharidoses


Gene context of Mucopolysaccharidoses

  • A deficiency of IDUA in humans leads to the accumulation of these glycosaminoglycans and results in the lysosomal storage disorder mucopolysaccharidosis type I. We have isolated and sequenced cDNA clones containing part of the human IDUA coding region and used PCR from reverse-transcribed RNA to obtain the full IDUA sequence [27].
  • Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene [28].
  • Mucopolysaccharidosis type VII (MPS VII) is an inherited disease resulting from deficient activity of the lysosomal acid hydrolase beta-glucuronidase (GUSB) and has been reported in humans, mice, cats, and dogs [29].
  • Mucopolysaccharidosis type IIIB (MPS-IIIB, Sanfilippo type B Syndrome) is a heterosomal, recessive lysosomal storage disorder resulting from a deficiency of [alpha]-N-acetylglucosaminidase (NAGLU) [30].
  • An early presentation of heparan N-sulphatase (SGSH) deficiency (mucopolysaccharidosis IIIA, MPS IIIA) with a prominent and isolated hepato-splenomegaly is described [31].

Analytical, diagnostic and therapeutic context of Mucopolysaccharidoses


  1. Decreased lysosomal storage in the adult MPS VII mouse brain in the vicinity of grafts of retroviral vector-corrected fibroblasts secreting high levels of beta-glucuronidase. Taylor, R.M., Wolfe, J.H. Nat. Med. (1997) [Pubmed]
  2. 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) [Pubmed]
  3. NAGLU mutations underlying Sanfilippo syndrome type B. Schmidtchen, A., Greenberg, D., Zhao, H.G., Li, H.H., Huang, Y., Tieu, P., Zhao, H.Z., Cheng, S., Zhao, Z., Whitley, C.B., Di Natale, P., Neufeld, E.F. Am. J. Hum. Genet. (1998) [Pubmed]
  4. 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) [Pubmed]
  5. Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients. Ashton, L.J., Brooks, D.A., McCourt, P.A., Muller, V.J., Clements, P.R., Hopwood, J.J. Am. J. Hum. Genet. (1992) [Pubmed]
  6. Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. Berger-Plantinga, E.G., Vanneste, J.A., Groener, J.E., van Schooneveld, M.J. J. Neurol. (2004) [Pubmed]
  7. Letter: Corneal cloudiness and retinitis pigmentosa in the mucopolysaccharidoses. Cotlier, E. N. Engl. J. Med. (1975) [Pubmed]
  8. Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases. Fukuda, S., Tomatsu, S., Masue, M., Sukegawa, K., Iwata, H., Ogawa, T., Nakashima, Y., Hori, T., Yamagishi, A., Hanyu, Y. J. Clin. Invest. (1992) [Pubmed]
  9. The HIV Tat protein transduction domain improves the biodistribution of beta-glucuronidase expressed from recombinant viral vectors. Xia, H., Mao, Q., Davidson, B.L. Nat. Biotechnol. (2001) [Pubmed]
  10. Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. Vogler, C., Levy, B., Grubb, J.H., Galvin, N., Tan, Y., Kakkis, E., Pavloff, N., Sly, W.S. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  11. Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. Triggs-Raine, B., Salo, T.J., Zhang, H., Wicklow, B.A., Natowicz, M.R. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  12. Experimental animal model for mucopolysaccharidosis: suramin-induced glycosaminoglycan and sphingolipid accumulation in the rat. Constantopoulos, G., Rees, S., Cragg, B.G., Barranger, J.A., Brady, R.O. Proc. Natl. Acad. Sci. U.S.A. (1980) [Pubmed]
  13. Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation. Kresse, H., Paschke, E., von Figura, K., Gilberg, W., Fuchs, W. Proc. Natl. Acad. Sci. U.S.A. (1980) [Pubmed]
  14. Processing of normal lysosomal and mutant N-acetylgalactosamine 4-sulphatase: BiP (immunoglobulin heavy-chain binding protein) may interact with critical protein contact sites. Bradford, T.M., Gething, M.J., Davey, R., Hopwood, J.J., Brooks, D.A. Biochem. J. (1999) [Pubmed]
  15. A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases. Robertson, D.A., Freeman, C., Morris, C.P., Hopwood, J.J. Biochem. J. (1992) [Pubmed]
  16. Recombinant alpha-L-iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts. Unger, E.G., Durrant, J., Anson, D.S., Hopwood, J.J. Biochem. J. (1994) [Pubmed]
  17. Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity. Tomatsu, S., Fukuda, S., Sukegawa, K., Ikedo, Y., Yamada, S., Yamada, Y., Sasaki, T., Okamoto, H., Kuwahara, T., Yamaguchi, S. Am. J. Hum. Genet. (1991) [Pubmed]
  18. Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes. Sukegawa, K., Nakamura, H., Kato, Z., Tomatsu, S., Montaño, A.M., Fukao, T., Toietta, G., Tortora, P., Orii, T., Kondo, N. Hum. Mol. Genet. (2000) [Pubmed]
  19. Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein. Brooks, D.A., Robertson, D.A., Bindloss, C., Litjens, T., Anson, D.S., Peters, C., Morris, C.P., Hopwood, J.J. Biochem. J. (1995) [Pubmed]
  20. Animal model studies of allelism: characterization of arylsulfatase B mutations in homoallelic and heteroallelic (genetic compound) homozygotes with feline mucopolysaccharidosis VI. McGovern, M.M., Mandell, N., Haskins, M., Desnick, R.J. Genetics (1985) [Pubmed]
  21. A new biochemical subtype of the Sanfilippo syndrome: characterization of the storage material in cultured fibroblasts of Sanfilippo C patients. Kresse, H., Von Figura, K., Klein, U. Eur. J. Biochem. (1978) [Pubmed]
  22. Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. Yamagishi, A., Tomatsu, S., Fukuda, S., Uchiyama, A., Shimozawa, N., Suzuki, Y., Kondo, N., Sukegawa, K., Orii, T. Hum. Mutat. (1996) [Pubmed]
  23. High level expression and export of beta-glucuronidase from murine mucopolysaccharidosis VII cells corrected by a double-copy retrovirus vector. Wolfe, J.H., Kyle, J.W., Sands, M.S., Sly, W.S., Markowitz, D.G., Parente, M.K. Gene Ther. (1995) [Pubmed]
  24. Prenatal diagnosis of Hunter syndrome using fetal plasma. Lissens, W., Van Lierde, M., Decaluwe, J., Foulon, W., Evrard, P., Van Hoof, F., Freund, M., Liebaers, I. Prenat. Diagn. (1988) [Pubmed]
  25. An improved determination of total glycosaminoglycans in body fluids by formation of complexes with quinacrine: changes in amniotic fluid total glycosaminoglycans during normal pregnancies and in pregnancies at risk for mucopolysaccharidoses. Mitra, S.K., Blau, K. Clin. Chim. Acta (1978) [Pubmed]
  26. Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays. Tempesta, M.C., Levade, T., Salvayre, R. Clin. Chim. Acta (1991) [Pubmed]
  27. Human alpha-L-iduronidase: cDNA isolation and expression. Scott, H.S., Anson, D.S., Orsborn, A.M., Nelson, P.V., Clements, P.R., Morris, C.P., Hopwood, J.J. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
  28. Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. Tomatsu, S., Fukuda, S., Cooper, A., Wraith, J.E., Ferreira, P., Di Natale, P., Tortora, P., Fujimoto, A., Kato, Z., Yamada, N., Isogai, K., Yamagishi, A., Sukegawa, K., Suzuki, Y., Shimozawa, N., Kondo, N., Sly, W.S., Orii, T. Hum. Mutat. (1997) [Pubmed]
  29. Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells. Ray, J., Bouvet, A., DeSanto, C., Fyfe, J.C., Xu, D., Wolfe, J.H., Aguirre, G.D., Patterson, D.F., Haskins, M.E., Henthorn, P.S. Genomics (1998) [Pubmed]
  30. Expression and characterization of human recombinant and alpha-N-acetylglucosaminidase. Weber, B., Hopwood, J.J., Yogalingam, G. Protein Expr. Purif. (2001) [Pubmed]
  31. Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. Bekri, S., Armana, G., De Ricaud, D., Osenda, M., Maire, I., Van Obberghen, E., Froissart, R. J. Inherit. Metab. Dis. (2005) [Pubmed]
  32. 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) [Pubmed]
  33. Liquid-chromatographic determination of urinary glycosaminoglycans for differential diagnosis of genetic mucopolysaccharidoses. Kodama, C., Ototani, N., Isemura, M., Aikawa, J., Yosizawa, Z. Clin. Chem. (1986) [Pubmed]
  34. Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis VI. Hayflick, S., Rowe, S., Kavanaugh-McHugh, A., Olson, J.L., Valle, D. J. Pediatr. (1992) [Pubmed]
  35. Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families. Yamada, Y., Tomatsu, S., Sukegawa, K., Suzuki, Y., Kondo, N., Hopwood, J.J., Orii, T. Hum. Genet. (1993) [Pubmed]
  36. Increased expression of subunit c of mitochondrial ATP synthase in brain tissue from neuronal ceroid lipofuscinoses and mucopolysaccharidosis cases but not in long-term fibroblast cultures. Kida, E., Wisniewski, K.E., Golabek, A.A. Neurosci. Lett. (1993) [Pubmed]
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