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MeSH Review

Gaucher Disease

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Disease relevance of Gaucher Disease


High impact information on Gaucher Disease


Chemical compound and disease context of Gaucher Disease


Biological context of Gaucher Disease


Anatomical context of Gaucher Disease


Gene context of Gaucher Disease


Analytical, diagnostic and therapeutic context of Gaucher Disease


  1. Prenatal genetic carrier testing using triple disease screening. Eng, C.M., Schechter, C., Robinowitz, J., Fulop, G., Burgert, T., Levy, B., Zinberg, R., Desnick, R.J. JAMA (1997) [Pubmed]
  2. Pulmonary hypertension in type 1 Gaucher's disease. Comité d'Evaluation du Traitement de la Maladie de Gaucher. Belmatoug, N., Launay, O., Carbon, C. Lancet (1998) [Pubmed]
  3. Serum angiotensin-converting enzyme in leprosy and coccidioidomycosis. Lieberman, J., Rea, T.H. Ann. Intern. Med. (1977) [Pubmed]
  4. Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase. Ponce, E., Moskovitz, J., Grabowski, G. Blood (1997) [Pubmed]
  5. A bicistronic therapeutic retroviral vector enables sorting of transduced CD34+ cells and corrects the enzyme deficiency in cells from Gaucher patients. Medin, J.A., Migita, M., Pawliuk, R., Jacobson, S., Amiri, M., Kluepfel-Stahl, S., Brady, R.O., Humphries, R.K., Karlsson, S. Blood (1996) [Pubmed]
  6. Short-term effects of pamidronate in patients with Gaucher's disease and severe skeletal involvement. Ciana, G., Cuttini, M., Bembi, B. N. Engl. J. Med. (1997) [Pubmed]
  7. A less costly regimen of alglucerase to treat Gaucher's disease. Figueroa, M.L., Rosenbloom, B.E., Kay, A.C., Garver, P., Thurston, D.W., Koziol, J.A., Gelbart, T., Beutler, E. N. Engl. J. Med. (1992) [Pubmed]
  8. Elevation of serum angiotensin-converting enzyme in Gaucher's disease. Lieberman, J., Beutler, E. N. Engl. J. Med. (1976) [Pubmed]
  9. Increased circulating levels of transcobalamin ii in gaucher's disease. Gilbert, H.S., Weinreb, N. N. Engl. J. Med. (1976) [Pubmed]
  10. Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Tybulewicz, V.L., Tremblay, M.L., LaMarca, M.E., Willemsen, R., Stubblefield, B.K., Winfield, S., Zablocka, B., Sidransky, E., Martin, B.M., Huang, S.P. Nature (1992) [Pubmed]
  11. Binding, internalization, and degradation of mannose-terminated glucocerebrosidase by macrophages. Sato, Y., Beutler, E. J. Clin. Invest. (1993) [Pubmed]
  12. Treatment of Gaucher's disease with OGT 918. Kranda, M. Lancet (2000) [Pubmed]
  13. Therapeutic delivery of proteins to macrophages: implications for treatment of Gaucher's disease. Mistry, P.K., Wraight, E.P., Cox, T.M. Lancet (1996) [Pubmed]
  14. Saposin A: second cerebrosidase activator protein. Morimoto, S., Martin, B.M., Yamamoto, Y., Kretz, K.A., O'Brien, J.S., Kishimoto, Y. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  15. Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease. Sawkar, A.R., Cheng, W.C., Beutler, E., Wong, C.H., Balch, W.E., Kelly, J.W. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  16. Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts. Bergmann, J.E., Grabowski, G.A. Am. J. Hum. Genet. (1989) [Pubmed]
  17. Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease. Ginns, E.I., Brady, R.O., Pirruccello, S., Moore, C., Sorrell, S., Furbish, F.S., Murray, G.J., Tager, J., Barranger, J.A. Proc. Natl. Acad. Sci. U.S.A. (1982) [Pubmed]
  18. Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease. Germain, D.P., Puech, J.P., Caillaud, C., Kahn, A., Poenaru, L. Am. J. Hum. Genet. (1998) [Pubmed]
  19. Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Tsuji, S., Martin, B.M., Barranger, J.A., Stubblefield, B.K., LaMarca, M.E., Ginns, E.I. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  20. Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data. Colombo, R. Am. J. Hum. Genet. (2000) [Pubmed]
  21. The fate of glucosylceramide (glucocerebroside) in genetically impaired (lysosomal beta-glucosidase deficient) Gaucher disease diploid human fibroblasts. Saito, M., Rosenberg, A. J. Biol. Chem. (1985) [Pubmed]
  22. Activators of spleen glucocerebrosidase from controls and patients with various forms of Gaucher's disease. Basu, A., Glew, R.H., Daniels, L.B., Clark, L.S. J. Biol. Chem. (1984) [Pubmed]
  23. Demonstration of feasibility of in vivo gene therapy for Gaucher disease using a chemically induced mouse model. Marshall, J., McEachern, K.A., Kyros, J.A., Nietupski, J.B., Budzinski, T., Ziegler, R.J., Yew, N.S., Sullivan, J., Scaria, A., van Rooijen, N., Barranger, J.A., Cheng, S.H. Mol. Ther. (2002) [Pubmed]
  24. Biochemical studies in a patient with subacute neuropathic Gaucher disease without visceral glucosylceramide storage. Wenger, D.A., Roth, S., Kudoh, T., Grover, W.D., Tucker, S.H., Kaye, E.M., Ullman, M.D. Pediatr. Res. (1983) [Pubmed]
  25. 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]
  26. Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease. Cormand, B., Montfort, M., Chabás, A., Vilageliu, L., Grinberg, D. Hum. Genet. (1997) [Pubmed]
  27. Structure and organization of the human thrombospondin 3 gene (THBS3). Adolph, K.W., Long, G.L., Winfield, S., Ginns, E.I., Bornstein, P. Genomics (1995) [Pubmed]
  28. Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10. Allen, M.J., Myer, B.J., Khokher, A.M., Rushton, N., Cox, T.M. QJM : monthly journal of the Association of Physicians. (1997) [Pubmed]
  29. Drug-selected coexpression of human glucocerebrosidase and P-glycoprotein using a bicistronic vector. Aran, J.M., Gottesman, M.M., Pastan, I. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  30. Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin. Jeyakumar, M., Butters, T.D., Cortina-Borja, M., Hunnam, V., Proia, R.L., Perry, V.H., Dwek, R.A., Platt, F.M. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  31. Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Ginns, E.I., Choudary, P.V., Tsuji, S., Martin, B., Stubblefield, B., Sawyer, J., Hozier, J., Barranger, J.A. Proc. Natl. Acad. Sci. U.S.A. (1985) [Pubmed]
  32. Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts. Graves, P.N., Grabowski, G.A., Ludman, M.D., Palese, P., Smith, F.I. Am. J. Hum. Genet. (1986) [Pubmed]
  33. Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations. Grace, M.E., Graves, P.N., Smith, F.I., Grabowski, G.A. J. Biol. Chem. (1990) [Pubmed]
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