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MeSH Review

Leukodystrophy, Globoid Cell

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Disease relevance of Leukodystrophy, Globoid Cell


Psychiatry related information on Leukodystrophy, Globoid Cell

  • METHODS: Brain CT and/or MR studies were done in 57 children 3 to 36 months of age: 16 with infantile neuronal ceroid lipofuscinosis, 5 with Rett syndrome, 6 with Krabbe disease, and 30 control subjects with normal neurologic status [6].

High impact information on Leukodystrophy, Globoid Cell

  • The twitcher mouse is a mutant affected by a form of leukodystrophy which shows close similarities to human globoid cell (Krabbe's) leukodystrophy [7].
  • Histologically, a gradual disappearance of globoid cells, the histological hallmark of Krabbe's disease, and the appearance of foamy macrophages capable of metabolizing the storage product were seen in the CNS [8].
  • The gene responsible for Krabbe disease, an autosomal recessive disorder caused by deficiency of galactocerebrosidase (GALC), was localized by multipoint linkage analysis on chromosome 14 [9].
  • Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene [10].
  • Globoid cell leukodystrophy (GLD) or Krabbe disease is an autosomal recessively inherited neurological disease caused by mutations in the gene coding for the lysosomal enzyme galacto-cerebrosidase (GALC) [11].

Chemical compound and disease context of Leukodystrophy, Globoid Cell


Biological context of Leukodystrophy, Globoid Cell


Anatomical context of Leukodystrophy, Globoid Cell


Gene context of Leukodystrophy, Globoid Cell


Analytical, diagnostic and therapeutic context of Leukodystrophy, Globoid Cell


  1. Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse. Yeager, A.M., Brennan, S., Tiffany, C., Moser, H.W., Santos, G.W. Science (1984) [Pubmed]
  2. Distribution of saposin proteins (sphingolipid activator proteins) in lysosomal storage and other diseases. Morimoto, S., Yamamoto, Y., O'Brien, J.S., Kishimoto, Y. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  3. Expression of immune-related molecules is downregulated in twitcher mice following bone marrow transplantation. Wu, Y.P., McMahon, E.J., Matsuda, J., Suzuki, K., Matsushima, G.K., Suzuki, K. J. Neuropathol. Exp. Neurol. (2001) [Pubmed]
  4. Quantification of galactosylsphingosine in the twitcher mouse using electrospray ionization-tandem mass spectrometry. Whitfield, P.D., Sharp, P.C., Taylor, R., Meikle, P. J. Lipid Res. (2001) [Pubmed]
  5. Widespread and highly persistent gene transfer to the CNS by retrovirus vector in utero: implication for gene therapy to Krabbe disease. Shen, J.S., Meng, X.L., Yokoo, T., Sakurai, K., Watabe, K., Ohashi, T., Eto, Y. The journal of gene medicine. (2005) [Pubmed]
  6. Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR. Vanhanen, S.L., Raininko, R., Santavuori, P. AJNR. American journal of neuroradiology. (1994) [Pubmed]
  7. Peripheral nerve grafts in hereditary leukodystrophic mutant mice (twitcher). Scaravilli, F., Jacobs, J.M. Nature (1981) [Pubmed]
  8. Donor-derived cells in the central nervous system of twitcher mice after bone marrow transplantation. Hoogerbrugge, P.M., Suzuki, K., Suzuki, K., Poorthuis, B.J., Kobayashi, T., Wagemaker, G., van Bekkum, D.W. Science (1988) [Pubmed]
  9. Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis. Oehlmann, R., Zlotogora, J., Wenger, D.A., Knowlton, R.G. Am. J. Hum. Genet. (1993) [Pubmed]
  10. Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene. Bernardini, G.L., Herrera, D.G., Carson, D., DeGasperi, R., Gama Sosa, M.A., Kolodny, E.H., Trifiletti, R. Ann. Neurol. (1997) [Pubmed]
  11. Murine, canine and non-human primate models of Krabbe disease. Wenger, D.A. Molecular medicine today. (2000) [Pubmed]
  12. Possible use of CSF glycosphingolipids for the diagnosis and therapeutic monitoring of lysosomal storage diseases. Kaye, E.M., Ullman, M.D., Kolodny, E.H., Krivit, W., Rischert, J.C. Neurology (1992) [Pubmed]
  13. Kinetics of inhibition of purified and mitochondrial cytochrome c oxidase by psychosine (beta-galactosylsphingosine). Cooper, C.E., Markus, M., Seetulsingh, S.P., Wrigglesworth, J.M. Biochem. J. (1993) [Pubmed]
  14. Human brain cerebroside beta-galactosidase: deficiency of transgalactosidic activity in Krabbe's disease. Carter, T.P., Beblowski, D.W., Savage, M.H., Kanfer, J.N. J. Neurochem. (1980) [Pubmed]
  15. Lysosulfatide (sulfogalactosylsphingosine) accumulation in tissues from patients with metachromatic leukodystrophy. Toda, K., Kobayashi, T., Goto, I., Ohno, K., Eto, Y., Inui, K., Okada, S. J. Neurochem. (1990) [Pubmed]
  16. Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3. Schueler, U.H., Kolter, T., Kaneski, C.R., Blusztajn, J.K., Herkenham, M., Sandhoff, K., Brady, R.O. Neurobiol. Dis. (2003) [Pubmed]
  17. 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]
  18. Expression of major histocompatibility complex class I antigens in the demyelinating twitcher CNS and PNS. Taniike, M., Marcus, J.R., Popko, B., Suzuki, K. J. Neurosci. Res. (1997) [Pubmed]
  19. Saposins (sap) A and C activate the degradation of galactosylsphingosine. Harzer, K., Hiraiwa, M., Paton, B.C. FEBS Lett. (2001) [Pubmed]
  20. Prenatal enzymic diagnosis in 24 pregnancies with risk of Krabbe disease . Harzer, K. Clin. Chim. Acta (1982) [Pubmed]
  21. Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse. Hoogerbrugge, P.M., Poorthuis, B.J., Romme, A.E., van de Kamp, J.J., Wagemaker, G., van Bekkum, D.W. J. Clin. Invest. (1988) [Pubmed]
  22. Clinical and biochemical heterogeneity of globoid cell leukodystrophy. Farrell, D.F., Swedberg, K. Ann. Neurol. (1981) [Pubmed]
  23. Carbonic anhydrase and 2',3' cyclic nucleotide 3'-phosphohydrolase activity in normal human brain and in demyelinating diseases. Lees, M.B., Sapirstein, V.S., Reiss, D.S., Kolodny, E.H. Neurology (1980) [Pubmed]
  24. Krabbe disease: a galactosylsphingosine (psychosine) lipidosis. Svennerholm, L., Vanier, M.T., Månsson, J.E. J. Lipid Res. (1980) [Pubmed]
  25. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Chen, Y.Q., Rafi, M.A., de Gala, G., Wenger, D.A. Hum. Mol. Genet. (1993) [Pubmed]
  26. IL-6 deficiency causes enhanced pathology in Twitcher (globoid cell leukodystrophy) mice. Pedchenko, T.V., LeVine, S.M. Exp. Neurol. (1999) [Pubmed]
  27. Differentiation between dysmyelination and demyelination using magnetic resonance diffusional anisotropy. Ono, J., Harada, K., Takahashi, M., Maeda, M., Ikenaka, K., Sakurai, K., Sakai, N., Kagawa, T., Fritz-Zieroth, B., Nagai, T. Brain Res. (1995) [Pubmed]
  28. AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy. Rafi, M.A., Zhi Rao, H., Passini, M.A., Curtis, M., Vanier, M.T., Zaka, M., Luzi, P., Wolfe, J.H., Wenger, D.A. Mol. Ther. (2005) [Pubmed]
  29. Delayed clinical and pathological signs in twitcher (globoid cell leukodystrophy) mice on a C57BL/6 x CAST/Ei background. Biswas, S., Biesiada, H., Williams, T.D., LeVine, S.M. Neurobiol. Dis. (2002) [Pubmed]
  30. The twitcher mouse: a model for Krabbe disease and for experimental therapies. Suzuki, K., Suzuki, K. Brain Pathol. (1995) [Pubmed]
  31. Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease. Sakai, N., Inui, K., Tatsumi, N., Fukushima, H., Nishigaki, T., Taniike, M., Nishimoto, J., Tsukamoto, H., Yanagihara, I., Ozono, K., Okada, S. J. Neurochem. (1996) [Pubmed]
  32. Clinical and cerebral FDG PET scan in a patient with Krabbe's disease. Al-Essa, M.A., Bakheet, S.M., Patay, Z.J., Powe, J.E., Ozand, P.T. Pediatric neurology. (2000) [Pubmed]
  33. Treatment of lysosomal storage disorders: cell therapy and gene therapy. Eto, Y., Shen, J.S., Meng, X.L., Ohashi, T. J. Inherit. Metab. Dis. (2004) [Pubmed]
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