Models of Krabbe Disease

Myelin Biology and Disorders

Volumn 2, Issue , 2004, Pages 1101-1113

  Suzuki, Kunihiko ^a  

^a UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 22244476458     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-012439510-7/50098-X     Document Type: Chapter

References (80)

1. Baskin G.B., Ratterree M., Davison B.B., Falkenstein K.P., Clarke M.R., England J.D., Vanier M.T., Luzi P., Rafi M.A., Wenger D.A. Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in Rhesus monkeys (Macaca mulatta). Lab. Anim. Sci. 1998, 48:476-482.
2. Biswas S., Le Vine S.M. Substrate-reduction therapy enhances the benefits of bone marrow transplantation in young mice with globoid cell leukodystrophy. Pediatr. Res. 2002, 51:40-47.
3. Chen H., Mc Carty D.M., Bruce A.T., Suzuki K., Suzuki K. Gene transfer and expression in oligodendrocytes under the control of myelin basic protein transcriptional control region mediated by adenoassociated virus. Gene Therapy 1998, 5:50-58.
4. Chen H., Mc Carty D.M., Bruce A.T., Suzuki K., Suzuki K. Oligodendrocyte-specific gene expression in mouse brain: Use of a myelin-forming cell type-specific promoter in an adeno-associated virus. J. Neurosci. Res. 1999, 55:504-513.
5. Chen Y.Q., Rafi M.A., De Gala G., Wenger D.A. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum. Mol. Genet. 1993, 2:1841-1845.
6. Christomanou H., Aignesberger A., Link R.P. Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro: Absence of one of them in a human Gaucher disease variant. Biol. Chem. Hoppe-Seyler 1986, 367:879-890.
7. Costantino-Ceccarini E., Luddi A., Volterrani M., Strazza M., Rafi M.A., Wenger D.A. Transduction of cultured oligodendrocytes from normal and twitcher mice by a retroviral vector containing human galactocerebrosidase (GALC). cDNA. Neurochem. Res. 1999, 24:287-293.
8. Costantino-Ceccarini E., Morell P. Biosynthesis of brain sphingolipids and myelin accumulation in the mouse. Lipids 1972, 7:656-659.
9. Duchen L.W., Eicher E.M., Jacobs J.M., Scaravilli F., Teixeira F. Hereditary leukodystrophy in the mouse - the new mutant twitcher. Brain 1980, 103:695-710.
10. Ezoe T., Vanier M.T., Oya Y., Popko B., Tohyama J., Matsuda J., Suzuki K., Suzuki K. Biochemistry and neuropathology of mice doubly deficient in synthesis and degradation of galactosylceramide. J. Neurosci. Res. 2000, 59:170-178.
11. Ezoe T., Vanier M.T., Oya Y., Popko B., Tohyama J., Matsuda J., Suzuki K., Suzuki K. Twitcher mice with only a single active galactosylceramide synthase gene exhibit clearly detectable but therapeutically minor phenotypic improvements. J. Neurosci. Res. 2000, 59:179-187.
12. Fankhäuser R., Luginbühl H., Hartley W.J. Leukodystrophie vom Typus Krabbe beim Hund. Schweiz. Arch. Tierheilkd. 1963, 105:198-207.
13. Fujita N., Suzuki K., Vanier M.T., Popko B., Maeda N., Klein A., Henseler M., Sandhoff K., Nakayasu H., Suzuki K. Targeted disruption of the mouse sphingolipid activator protein gene: A complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids. Hum. Mol. Genet. 1996, 5:711-725.
14. Grusby M.L., Johnson R.S., Papaloannou V.E., Glimcher L.H. Depletion of CD4+ T cells in major histocompatibility compex class II-deficient mice. Science 1991, 253:670-674.
15. Gumpel M., Baumann N., Raoul M., Jacque C. Survival and differentiation of oligodendrocytes from neural tissue transplanted into new-born mouse brain. Neurosci. Lett. 1983, 37:307-312.
16. Harzer K., Paton B.C., Christomanou H., Chatelut M., Levade T., Hiraiwa M., O'Brien J.S. Saposins (sap). A and C activate the degradation of galactosylceramide in living cells. FEBS Lett. 1997, 417:270-274.
17. Hoogerbrugge P.M., Poorthuis B.J.H.M., Romme A.E., van de Kamp J.J.P., Wagemaker G., van Bekkum D.W. Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse. J. Clin. Invest. 1988, 81:1790-1794.
18. Hoogerbrugge P.M., Suzuki K., Suzuki K., Poorthuis B.J.H.M., Kobayashi T., Wagemaker G., van Bekkum D.W. Donor derived cells in the central nervous system of twitcher mice after bone marrow transplantation. Science 1988, 239:1035-1038.
19. Hulková H., Cervenková M., Ledvinová J., Tochacková M., Hrebícek M., Poupetová H., Befekadu A., Berná L., Paton B.C., Harzer K., Böör A., Smíd F., Elleder M. A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. Hum. Mol. Genet. 2001, 10:927-940.
20. Huppes W., De Groot C.J.A., Ostendorf R.H., Bauman J.G.J., Gossen J.A., Smit V., Vijg J., Dijkstra C.D. Detection of migrated allogeneic oligodendrocytes throughout the central nervous system of the galactocerebrosidase-deficient twitcher mouse. J. Neurocytol 1992, 21:129-136.
21. Ichioka T., Kishimoto Y., Brennan S., Santos G.W., Yeager A.M. Hematopoietic cell transplantation in murine globoid cell leukodystrophy (the twticher mouse): Effects on levels of galactosylceramidase, psychosine, and galactocerebrosides. Proc. Natl. Acad. Sci. USA 1987, 84:4259-4263.
22. Ida H., Umezawa F., Kasai E., Eto Y., Maekawa K. An accumulation of galactocerebroside in kidney from mouse globoid cell leukodystrophy (twitcher). Biochem. Biophys. Res. Commun. 1982, 109:634-638.
23. Igisu H., Shimomura K., Kishimoto Y., Suzuki K. Lipids of developing brain of twitcher mouse-An authentic murine model of human Krabbe disease. Brain 1983, 106:405-417.
24. Igisu H., Suzuki K. Glycolipids of the spinal cord, sciatic nerve and systemic organs of the twitcher mouse. J. Neuropath. Exper. Neurol. 1984, 43:22-36.
25. Igisu H., Suzuki K. Progressive accumulation of toxic metabolite in a genetic leukodystrophy. Science 1984, 224:753-755.
26. Igisu H., Takahashi H., Suzuki K., Suzuki K. Abnormal accumulation of galactosylceramide in the kidney of twitcher mouse. Biochem. Biophys. Res. Commun. 1983, 110:940-944.
27. Kobayashi S., Chiu F.-C., Katayama M., Sacchi R.S., Suzuki K., Suzuki K. Expression of glial fibrillary acidic protein in the CNS and PNS of murine globoid cell leukodystrophy, the twitcher. Am. J. Pathol. 1986, 125:227-243.
28. Kobayashi S., Katayama M., Satoh J., Suzuki Ku., Suzuki K. The twitcher mouse: An alteration of the unmyelinated fibers in the PNS. Am. J. Pathol. 1988, 131:308-319.
29. Kobayashi T., Nagara H., Suzuki K., Suzuki K. The twitcher mouse: Determination of genetic status by galactosylceramidase assays on clipped tail. Biochemical Medicine 1982, 27:8-14.
30. Kobayashi T., Yamanaka T., Jacobs J.M., Teixeira F., Suzuki K. The twitcher mouse: An enzymatically authentic model of human globoid cell leukodystrophy (Krabbe disease). Brain Res. 1980, 202:479-483.
31. Kodama S., Igisu H., Siegel D.A., Suzuki K. Glycosylceramide synthesis in the developing spinal cord and kidney of the twitcher mouse, an enzymatically authentic model of human Krabbe disease. J. Neurochem. 1982, 39:1314-1318.
32. Le Vine S.M., Brown D.C. IL-6 and TNFα expression in brains of twitcher, quaking and normal mice. J. Neuroimmunol. 1997, 73:47-56.
33. Le Vine S.M., Pedchenko T.V., Bronshteyn I.G., Pinson D.M. L-cycloserine slows the clinical and pathological course in mice with globoid cell leukodystrophy (twitcher mice). J. Neurosci. Res. 2000, 60:231-236.
34. Le Vine S.M., Wetzel D.L., Eiler A.J. Neuropathology of twitcher mice: Examination by histochemistry, immunohistochemistry, lectin histochemistry and Fourier transform infrared microspectroscopy. In. J. Develop. Neurosci. 1994, 12:275-288.
35. Luzi P., Rafi M.A., Victoria T., Baskin G.B., Wenger D.A. Characterization of the rhesus monkey galactocerebrosidase (GALC). cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease). in this primate. Genomics 1997, 42:319-324.
36. Luzi P., Rafi M.A., Zaka M., Curtis M., Vanier M.T., Wenger D.A. Generation of a mouse with low galactocerebrosidase activity by gene targeting: A new model of globoid cell leukodystrophy (Krabbe disease). Molecular Genetics and Metabolism 2001, 73:211-223.
37. Matsuda J., Vanier M.T., Saito Y., Suzuki K., Suzuki K. Dramatic phenotypic improvement during pregnancy in a genetic leukodystrophy: Estrogen appears to be a critical factor. Hum. Mol. Genet. 2001, 10:2709-2715.
38. Matsuda J., Vanier M.T., Saito Y., Tohyama J., Suzuki K., Suzuki K. A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin). gene causes a late-onset, slowly progressive form of globoid cell leukodystrophy in the mouse. Hum. Mol. Genet. 2001, 10:1191-1199.
39. Matsumoto A., Vanier M.T., Oya Y., Kelly D., Popko B., Wenger D.A., Suzuki K., Suzuki K. Transgenic introduction of human galactosylceramidase into twitcher mouse: Significant phenotype improvement with a minimal expression. Develop. Brain Dysfunction 1997, 10:142-154.
40. Matsushima G.K., Taniike M., Glimcher L.H., Grusby M.J., Frelinger J.A., Suzuki K., Ting J.P.Y. Absence of MHC class II molecules reduces CNS demyelination, microglial; macrophage infiltration, and twitching in murine globoid cell leukodystrophy. Cell 1994, 78:645-656.
41. Mikoshiba K., Fujishiro M., Kohsaka S., Okano H., Takamatsu K., Tsukada Y. Disorders in myelination in the twitcher mutant: Immunohistochemical and biochemical studies. Neurochem. Res. 1985, 10:1129-1141.
42. Morimoto S., Martin B.M., Yamamoto Y., Kretz K.A., O'Brien J.S., Kishimoto Y. Saposin-A - 2nd Cerebrosidase Activator Protein. Proc. Natl. Acad. Sci., USA 1989, 86:3389-3393.
43. Ohno M., Komiyama A., Martin P.M., Suzuki K. MHC class II antigen expression and T-cell infiltration in the demyelinating CNS and PNS of the twitcher mouse. Brain Res. 1993, 625:186-196.
44. Olmstead C.E. Neurological and neurobehavioral development of the mutant 'twitcher' mouse. Behav. Brain Res. 1987, 25:143-152.
45. Podchenko T.V., Broshteyn I.G., Le Vine S.M. TNF-receptor I deficiency fails to alter the clinical and pathological course in mice with globoid cell leukodystrophy (twitcher mice). but affords protection following LPS challenge. J. Neuroimmunol. 2000, 110:186-194.
46. Pedchenko T.V., LeVine S.M. IL-6 deficiency causes enhanced pathology in twitcher (globoid cell leukodystrophy). mice. Exp. Neurol. 1999, 158:459-468.
47. Powell H.C., Knobler R.L., Myers R.R. Peripheral neuropathy in the twitcher mutant: A new experimental model of endoneurial edema. Lab. Invest. 1983, 49:19-25.
48. Radin N.S. Treatment of Gaucher disease with an enzyme inhibitor. Glycoconjugate J. 1996, 13:153-157.
49. Radin N.S. Chemotherapy by slowing glucosphingolipid synthesis. Biochem. Pharmacol. 1999, 57:589-595.
50. Rafi M.A., Fugaro J., Amini S., Luzi P., De Gala G., Victoria T., Dubell C., Shahinfar M., Wenger D.A. Retroviral vector-mediated transfer of the galactocerebrosidase (GALC). cDNA leads to overexpression and transfer of GALC activity to neighboring cells. Biochem. Molec. Med. 1996, 58:142-150.
51. Sakai N., Inui K., Fujii N., Fukushima H., Nishimoto J., Yanagihara I., Isegawa Y., Iwamatsu A., Okada S. Krabbe disease: Isolation and characterization of a full-length cDNA for human galactocerebrosidase. Biochem. Biophys. Res. Commun. 1994, 198:485-491.
52. Sakai N., Inui K., Tatsumi N., Fukushima H., Nishigaki T., Taniike M., Nishimoto J., Tsukamoto H., Yanagihara I., Ozone K., Okada S. Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe disease. J. Neurochem. 1996, 66:1118-1124.
53. Sandhoff K., Kolter T., Harzer K. Sphingolipid activator proteins. The Metabolic and Molecular Basis of Inherited Disease 2001, 3371-3388. McGraw-Hill, San Diego, CA. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
54. Scaravilli F., Jacobs J.M. Improved myelination in nerve grafts from the leukodystrophic twitcher into trembler mice - Evidence for enzyme replacement. Brain Res. 1982, 237:163-172.
55. Scaravilli F., Suzuki K. Enzyme replacement in grafted nerve of twitcher mouse. Nature 1983, 305:713-715.
56. Schnabel D., Schröder M., Fürst W., Klein A., Hurwitz R., Zenk T., Weber J., Harzer K., Paton B.C., Poulos A., Suzuki K., Sandhoff K. Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. J. Biol. Chem. 1992, 267:3312-3315.
57. Schulte S., Stoffel W. Ceramide UDPgalactosyltransferase from myelinating rat brain: Purification, cloning, and expression. Proc. Natl. Acad. Sci., USA 1993, 90:10265-10269.
58. Shapiro L.J., Aleck K.A., Kaback M.M., Itabashi H., Desnick R.J., Brand N., Stevens R.L., Fluharty A.L., Kihara H. Metachromatic leukodystrophy without arylsulfatase A deficiency. Pediat. Res. 1979, 13:1179-1181.
59. Stahl N., Jurevics H., Morell P., Suzuki K., Popko B. Isolation, characterization, and expression of cDNA clones that encode rat UDP-galactose:ceramide galactosyltransferase. J. Neurosci. Res. 1994, 38:234-242.
60. Sundaram K.S., Lev M. Inhibition of sphingolipid synthesis by cycloserine in vitro and in vivo. J. Neurochem. 1984, 42:577-581.
61. Suzuki K. Renal cerebrosides in globoid cell leukodystrophy (Krabbe disease). Lipids 1971, 6:433-436.
62. Suzuki K. Twenty five years of the psychosine hypothesis: A personal perspective of its history and present status. Neurochem. Res. 1998, 23:251-259.
63. Suzuki K., Hoogerbrugge P.M., Poorthuis B.J.H.M., Romme A.E., van de Kamp J.J.P., Wagemaker G., van Bekkum D.W., Suzuki K. The twitcher mouse: Central nervous system pathology after bone marrow transplantation (BMT). Lab. Invest. 1988, 58:302-309.
64. Suzuki K., Suzuki Y. Globoid cell leucodystrophy (Krabbe disease): Deficiency of galactocerebroside β-galactosidase. Proc. Natl. Acad. Sci. USA 1970, 66:302-309.
65. Suzuki Y., Austin J., Armstrong D., Suzuki K., Schlenker J., Fletcher T. Studies in globoid leukodystrophy: Enzymatic and lipid findings in the canine form. Exp. Neurol. 1970, 29:65-75.
66. Tanaka H., Suzuki K. Sustrate specificities of the two genetically distinct human brain β-galactosidases. Brain Res. 1977, 122:325-335.
67. Taniike M., Marcus J.R., Nishigaki T., Fujita N., Popko B., Suzuki K. Suppressed UDP-galactose:ceramide galactosyltransferase and myelin protein mRNA in twitches mouse brain. J. Neurosci. Res. 1998, 51:536-540.
68. Taniike M., Mohri I., Eguchi N., Irikura D., Urade Y., Okada S., Suzuki K. An apoptotic depletion of oligodendrocytes in the twitcher, a murine model of globoid cell leukodystrophy. J. Neuropathol. Exp. Neurol. 1999, 58:644-653.
69. Taniike M., Suzuki K. Spacio-temporal progression of demyelination in twitcher mouse: With clinicopathological correlation. Acta Neuropathol. (Berl). 1994, 88:228-236.
70. Taniike M., Suzuki K. Proliferative capacity of oligodendrocytes in the demyelinating twitcher spinal cord. J Neurosci Res 1995, 40:325-332.
71. Tohyama J., Matsuda J., Suzuki K. Psychosine is as potent an inducer of cell death as C6-ceramide in cultured fibroblasts and in MOCH-1 cells. Neurochem. Res. 2001, 26:667-671.
72. Tohyama J., Vanier M.T., Suzuki K., Ezoe T., Matsuda J., Suzuki K. Paradoxical influence of acid β-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency). Hum. Mol. Genet. 2000, 9:1699-1707.
73. Toyoshima E., Yeager A.M., Brennan S., Santos G.W., Moser H.W., Mayer R.F. Nerve conduction studies in the twitcher mouse (murine globoid cell leukodystrophy). J. Neurol. Sci. 1986, 74:307-318.
74. Victoria T., Rafi M.A., Wenger D.A. Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in west highland white and cairn terriers. Genomics 1996, 33:457-462.
75. Vunnam R.R., Radin N.S. Analogs of ceramide that inhibit glucocerebroside synthetase in mouse brain. Chem. Phys. Lipids 1980, 26:265-278.
76. Wenger D.A., Suzuki K., Suzuki Y., Suzuki K. Galactosylceramide lipidosis: Globoid cell leukodystrophy (Krabbe disease). The Metabolic and Molecular Basis of Inherited Disease 2001, 3669-3694. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
77. Wu Y.P., Matsuda J., Kubota A., Suzuki K., Suzuki K. Infiltration of hematogenous lineage cells into the demyelinating central nervous system of twitcher mice. J. Neuropathol. Exp. Neurol. 2000, 59:628-639.
78. + donor hematogenous cells in twitcher mice after bone marrow transplantation. American Journal of Pathology 2000, 156:1849-1854.
79. Wu Y.P., Mc Mahon E.J., Matsuda J., Suzuki K., Matsushima G.K., Suzuki K. Expression of immune-related molecules is downregulated in Twitcher mice following bone marrow transplantation. J. Neuropathol. Exp. Neurol. 2001, 60:1062-1074.
80. Yeager A.M., Brennan S., Tiffany C., Moser H.W., Santos G.W. Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse. Science 1984, 225:1053-1054.