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MeSH Review

Lysosomal Storage Diseases

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Disease relevance of Lysosomal Storage Diseases


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Chemical compound and disease context of Lysosomal Storage Diseases


Biological context of Lysosomal Storage Diseases


Anatomical context of Lysosomal Storage Diseases


Gene context of Lysosomal Storage Diseases


Analytical, diagnostic and therapeutic context of Lysosomal Storage Diseases


  1. Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). Otterbach, B., Stoffel, W. Cell (1995) [Pubmed]
  2. Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients. Grace, M.E., Desnick, R.J., Pastores, G.M. J. Clin. Invest. (1997) [Pubmed]
  3. Lysosomal enzyme phosphorylation in human fibroblasts. Kinetic parameters offer a biochemical rationale for two distinct defects in the uridine diphospho-N-acetylglucosamine:lysosomal enzyme precursor N-acetylglucosamine-1-phosphotransferase. Lang, L., Takahashi, T., Tang, J., Kornfeld, S. J. Clin. Invest. (1985) [Pubmed]
  4. Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI. Evers, M., Saftig, P., Schmidt, P., Hafner, A., McLoghlin, D.B., Schmahl, W., Hess, B., von Figura, K., Peters, C. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  5. Transgene produces massive overexpression of human beta -glucuronidase in mice, lysosomal storage of enzyme, and strain-dependent tumors. Vogler, C., Galvin, N., Levy, B., Grubb, J., Jiang, J., Zhou, X.Y., Sly, W.S. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  6. Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse. Peltola, M., Kyttälä, A., Heinonen, O., Rapola, J., Paunio, T., Revah, F., Peltonen, L., Jalanko, A. Gene Ther. (1998) [Pubmed]
  7. Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog. Fares, H., Greenwald, I. Nat. Genet. (2001) [Pubmed]
  8. Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage. Mizukami, H., Mi, Y., Wada, R., Kono, M., Yamashita, T., Liu, Y., Werth, N., Sandhoff, R., Sandhoff, K., Proia, R.L. J. Clin. Invest. (2002) [Pubmed]
  9. Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. Kasper, D., Planells-Cases, R., Fuhrmann, J.C., Scheel, O., Zeitz, O., Ruether, K., Schmitt, A., Poët, M., Steinfeld, R., Schweizer, M., Kornak, U., Jentsch, T.J. EMBO J. (2005) [Pubmed]
  10. A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration. Tyynelä, J., Sohar, I., Sleat, D.E., Gin, R.M., Donnelly, R.J., Baumann, M., Haltia, M., Lobel, P. EMBO J. (2000) [Pubmed]
  11. Galactocerebrosidase-deficient oligodendrocytes maintain stable central myelin by exogenous replacement of the missing enzyme in mice. Kondo, Y., Wenger, D.A., Gallo, V., Duncan, I.D. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  12. Busulfan disposition below the age of three: alteration in children with lysosomal storage disease. Vassal, G., Fischer, A., Challine, D., Boland, I., Ledheist, F., Lemerle, S., Vilmer, E., Rahimy, C., Souillet, G., Gluckman, E. Blood (1993) [Pubmed]
  13. Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis. Stinchi, S., Lüllmann-Rauch, R., Hartmann, D., Coenen, R., Beccari, T., Orlacchio, A., von Figura, K., Saftig, P. Hum. Mol. Genet. (1999) [Pubmed]
  14. Purification and properties of an endo-beta-N-acetylglucosaminidase from hen oviduct. Tarentino, A.L., Maley, F. J. Biol. Chem. (1976) [Pubmed]
  15. Lectin histochemistry of an ovine lysosomal storage disease with deficiencies of beta-galactosidase and alpha-neuraminidase. Murnane, R.D., Ahern-Rindell, A.J., Prieur, D.J. Am. J. Pathol. (1989) [Pubmed]
  16. Cloning and expression of the cDNA sequence encoding the lysosomal glycosidase di-N-acetylchitobiase. Fisher, K.J., Aronson, N.N. J. Biol. Chem. (1992) [Pubmed]
  17. Proteolytic degradation of glutamate decarboxylase mediates disinhibition of hippocampal CA3 pyramidal cells in cathepsin D-deficient mice. Shimizu, T., Hayashi, Y., Yamasaki, R., Yamada, J., Zhang, J., Ukai, K., Koike, M., Mine, K., von Figura, K., Peters, C., Saftig, P., Fukuda, T., Uchiyama, Y., Nakanishi, H. J. Neurochem. (2005) [Pubmed]
  18. A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme. Kafert, S., Heinisch, U., Zlotogora, J., Gieselmann, V. Hum. Genet. (1995) [Pubmed]
  19. Familial childhood primary lateral sclerosis with associated gaze paresis. Gascon, G.G., Chavis, P., Yaghmour, A., Stigsby, B., Shums, A., Ozand, P., Siddique, T. Neuropediatrics. (1995) [Pubmed]
  20. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Applegarth, D.A., Toone, J.R., Lowry, R.B. Pediatrics (2000) [Pubmed]
  21. Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation. Keeling, K.M., Brooks, D.A., Hopwood, J.J., Li, P., Thompson, J.N., Bedwell, D.M. Hum. Mol. Genet. (2001) [Pubmed]
  22. CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. Mole, S.E., Michaux, G., Codlin, S., Wheeler, R.B., Sharp, J.D., Cutler, D.F. Exp. Cell Res. (2004) [Pubmed]
  23. Non-viral, integrin-mediated gene transfer into fibroblasts from patients with lysosomal storage diseases. Estruch, E.J., Hart, S.L., Kinnon, C., Winchester, B.G. The journal of gene medicine. (2001) [Pubmed]
  24. Purification and structure of human liver aspartylglucosaminidase. Rip, J.W., Coulter-Mackie, M.B., Rupar, C.A., Gordon, B.A. Biochem. J. (1992) [Pubmed]
  25. Lipocalin-type prostaglandin D synthase is up-regulated in oligodendrocytes in lysosomal storage diseases and binds gangliosides. Mohri, I., Taniike, M., Okazaki, I., Kagitani-Shimono, K., Aritake, K., Kanekiyo, T., Yagi, T., Takikita, S., Kim, H.S., Urade, Y., Suzuki, K. J. Neurochem. (2006) [Pubmed]
  26. CTNS mutations in patients with cystinosis. Anikster, Y., Shotelersuk, V., Gahl, W.A. Hum. Mutat. (1999) [Pubmed]
  27. Rapid immunologic diagnosis of classic late infantile neuronal ceroid lipofuscinosis. Kurachi, Y., Oka, A., Mizuguchi, M., Ohkoshi, Y., Sasaki, M., Itoh, M., Hayashi, M., Goto, Y., Takashima, S. Neurology (2000) [Pubmed]
  28. Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants. Sun, Y., Quinn, B., Witte, D.P., Grabowski, G.A. J. Lipid Res. (2005) [Pubmed]
  29. Batten's disease: clues to neuronal protein catabolism in lysosomes. Dawson, G., Cho, S. J. Neurosci. Res. (2000) [Pubmed]
  30. The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes. Landgrebe, J., Dierks, T., Schmidt, B., von Figura, K. Gene (2003) [Pubmed]
  31. Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis. Lönnqvist, T., Vanhanen, S.L., Vettenranta, K., Autti, T., Rapola, J., Santavuori, P., Saarinen-Pihkala, U.M. Neurology (2001) [Pubmed]
  32. Bone marrow stem cell gene therapy of arylsulfatase A-deficient mice, using an arylsulfatase A mutant that is hypersecreted from retrovirally transduced donor-type cells. Matzner, U., Schestag, F., Hartmann, D., Lüllmann-Rauch, R., D'Hooge, R., De Deyn, P.P., Gieselmann, V. Hum. Gene Ther. (2001) [Pubmed]
  33. Widespread gene transduction to the central nervous system by adenovirus in utero: implication for prenatal gene therapy to brain involvement of lysosomal storage disease. Shen, J.S., Meng, X.L., Maeda, H., Ohashi, T., Eto, Y. The journal of gene medicine. (2004) [Pubmed]
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