Kunihiko Suzuki and sphingolipidoses

Journal of Biochemistry

Volumn 150, Issue 6, 2011, Pages 597-605

  Ohno, Kousaku ^a  

^a TOTTORI UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GALACTOSIDASE; GALACTOSYLCERAMIDASE; GANGLIOSIDE GM2 ACTIVATOR PROTEIN; PSYCHOSINE; SPHINGOLIPID; VERY LONG CHAIN FATTY ACID;

ADRENOLEUKODYSTROPHY; ARTICLE; DISEASE MODEL; ENZYME DEFICIENCY; GENE TARGETING; GLOBOID CELL LEUKODYSTROPHY; GM1 GANGLIOSIDOSIS; GM2 GANGLIOSIDOSIS; HUMAN; LIPIDOSIS; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; NONHUMAN; PATHOGENESIS; PHYSICIAN; PROTEIN FUNCTION;

ADRENOLEUKODYSTROPHY; ANIMALS; DISEASE MODELS, ANIMAL; HISTORY, 20TH CENTURY; HISTORY, 21ST CENTURY; JAPAN; LEUKODYSTROPHY, GLOBOID CELL; MICE; SPHINGOLIPIDOSES; UNITED STATES;

EID: 82955224993     PISSN: 0021924X     EISSN: 17562651     Source Type: Journal    
DOI: 10.1093/jb/mvr127     Document Type: Article

References (82)

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53. Tanaka, A., Ohno, K., Sandohoff, K., Maire, I., Kolodny, E.H., Brown, A., and Suzuki, K. (1990) GM2-gangliosidosis B1 variant: analysis of b-hexosaminidase a gene abnormalities in seven patients. Am. J. Med. Genet. 46, 329-339
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58. Tanaka, A., Sakuraba, H., Isshiki, G., and Suzuki, K. (1993) The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor splice site of intron 5 of the b-hexosaminidase a gene. Biochem. Biophys. Res. Commun. 192, 539-546 (Pubitemid 23227357)
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60. Hara, Y., Ioannou, P., Drousiotou, A., Stylianidou, G., Anastasiadou, V., and Suzuki, K. (1994) Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus. Hum. Genet. 94, 136-140 (Pubitemid 24232044)
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65. Stahl, N, Jurevics, H., Morell, P., Suzuki, K., and Popko, B. (1994) Isolation, characterization, and expression of cDNA clones that encode UDP-galactose:-ceramide galactosyltransferase. J. Neurosci. Res. 38, 234-242 (Pubitemid 24155740)
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67. Coetzee, T., Fujita, N, Dupree, J., Shi, R., Blight, A., Suzuki, K., Suzuki, K., and Popko, B. (1996) Myelination in the absence of galactocerebroside and sulfatide: normal structure with abnormal function and regional instability. Cell 86, 209-219 (Pubitemid 26286104)
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69. Ezoe, T., Vanier, M.T., Oya, Y., Popko, B., Tohyama, J., Matsuda, J., Suzuki, K., and Suzuki, K. (2000) Biochemistry and neuropathology of mice doubly deficient in synthesis and degradation of galactosyl cera-mide. J. Neurosci. Res. 59, 170-178 (Pubitemid 30036890)
70. Schroder, M., Klima, H., Nakano, T., Kwon, H, Quintern, L.E., Gartner, S., Suzuki, K., and Sandhoff, K. (1989) Isolation of a cDNA encoding the human GM2-activator protein. FEBS Lett. 251, 197-200 (Pubitemid 19181869)
71. Klima, H., Tanaka, A., Schnabel, D., Nakano, T., Schroder, M., Suzuki, K., and Sandhoff, K. (1991) Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein. FEBS Lett. 289, 260-264
72. Schroder, M., Schnabel, D., Suzuki, K., and Sandhoff, K. (1991) A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB. FEBS Lett. 290, 1-3
73. Nakano, T., Sandhoff, K., Stumper, J., Christomanou, H., and Suzuki, K. (1989) Structure of full-length cDNA coding for sulfatide activator, a co-ß-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator. J. Biochem. 105, 152-154 (Pubitemid 19059070)
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75. Holtschmidt, H, Sandhoff, K., Furst, W., Kwon, H.Y., Schnabel, D., and Suzuki, K. (1991) The organization of the gene for the human cerebroside sulfate activator protein. FEBS Lett. 280, 267-270
76. Schnabel, D., Schroder, M., Furst, W., Klein, A., Hurwitz, R., Zenk, T., Weber, J., Harzer, K, Paton, B., Poulos, A., Suzuki, K, and Sandhoff, K. (1992) 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. 267, 3312-3315
77. Klein, A., Henseler, M., Klein, C, Suzuki, K, Harzer, K, and Sandhoff, K. (1994) Sphingolipid activator protein D (sap-D) stimulates the lysosomal degradation of ceramide in vivo. Biochem. Biophys. Res. Commun. 200, 1440-1448 (Pubitemid 24181813)
78. Fujita, N, Suzuki, K, Vanier, M.T., Popko, B., Meda, N., Klein, A., Henseler, M., Sandhoff, K, Nakayasu, H, and Suzuki, K. (1996) Targeted disruption of the mouse sphingolipid activator protein geke: a complex pheno-type, including severe leukodystrophy and wide-spread storage of multiple sphingoliopidosis. Hum. Mol. Genet. 5, 711-725 (Pubitemid 26171286)
79. Matsuda, J., Vanier, M.T., Saito, Y., Tohyama, J., Suzuki, K, and Suzuki, K. (2001) A mutation in the saposin A domain of the shingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse. Hum. Mol. Genet. 10, 1191-1199 (Pubitemid 32487542)
80. Matsuda, J., Kido, M., Tadano-Aritomi, K., Ishizuka, I., Tomibnaga, K., Toida, K., Takeda, E., Suzuki, K., and Kuroda, Y. (2004) Mutation in saposin D domain od sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxyl fatty acid containing cer-amide in mouse. Hum. Mol. Genet. 13, 2709-2723 (Pubitemid 39485419)
81. Spiegel, R., Bach, G., Sury, V., Mengistu, G., Meidan, B., Shalev, S., Shneor, Y., Mandel, H., and Zeigler, M. (2005) A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans. Mol. Genet. Metab. 84, 160-166 (Pubitemid 40164576)
82. Matsuda, J., Vanier, M.T., Saito, Y., Suzuki, K., and Suzuki, K. (2001) Dramatic phenotypic improvement during pregnancy in a geneic leukodystrophy: estrogen appears to be a critical factor. Hum. Mol. Genet. 23, 2709-2715 (Pubitemid 33133412)