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業績

英文（1994-1999）

1999年

  1. Y. Aoki, X. Li, O. Sakamoto, M. Hiratsuka, H. Akaishi, L. Xu, P. Briones, T. Suormala, E. R. Baumgartner, Y. Suzuki and K. Narisawa Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency (1999) Hum Genet 104: 143-8.
  2. A. Asanuma, T. Ohura, E. Ogawa, S. Sato, Y. Igarashi, Y. Matsubara and K. Iinuma Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency (1999) J Hum Genet 44: 312-7.
  3. D. C. Hou, S. Kure, Y. Suzuki, Y. Hasegawa, Y. Hara, T. Inoue, Y. Kida, Y. Matsubara and K. Narisawa Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene (1999) Am J Med Genet 86: 253-7.
  4. A. H. Jackson, D. A. Applegarth, J. R. Toone, S. Kure and H. L. Levy Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio (1999) J Child Neurol 14: 464-7.
  5. S. Kure, D. C. Hou, T. Ohura, H. Iwamoto, S. Suzuki, N. Sugiyama, O. Sakamoto, K. Fujii, Y. Matsubara and K. Narisawa Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency (1999) J Pediatr 135: 375-8.
  6. S. Kure, M. O. Rolland, J. Leisti, H. Mandel, Y. Sakata, K. Tada, Y. Matsubara and K. Narisawa Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations (1999) Prenat Diagn 19: 717-20.
  7. S. Kure, D. C. Hou, M. Satoh, Y. Matsubara and K. Narisawa Apo A-IMiyagi (947delA): a novel deletion in the apolipoprotein A-I gene associated with familial hypoalphalipoproteinemia (1999) Hum Mutat 13: 341.
  8. Y. Matsubara, K. Fujii, P. Rinaldo and K. Narisawa A fluorogenic allele-specific amplification method for DNA-based screening for inherited metabolic disorders (1999) Acta Paediatr Suppl 88: 65-8.
  9. H. Mikami, M. Ogasawara, Y. Matsubara, M. Kiku †chi, S. Miyabayashi, S. Kure and K. Narisawa Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients (1999) J Hum Genet 44: 35-9.
  10. Y. Nagasaki, Y. Matsubara, H. Takano, K. Fujii, M. Senoo, J. Akanuma, K. Takahashi, S. Kure, M. Hara, Y. Kanegae, I. Saito and K. Narisawa Reversal of hypopigmentation in phenylketonuria mice by adenovirus- mediated gene transfer (1999) Pediatr Res 45: 465-73.
  11. T. Ohura, K. Narisawa and K. Iinuma Mutation analysis of the propionyl-CoA carboxylase alpha-subunit gene in four Japanese patients with propionic acidaemia (1999) J Inherit Metab Dis 22: 851-2.
  12. T. Ohura, K. Narisawa, K. Tada and K. Iinuma An 84 bp insertion found in a propionic acidaemia patient is not a disease-causing mutation but a product of cryptic mRNA (1999) J Inherit Metab Dis 22: 676-7.
  13. O. Sakamoto, Y. Suzuki, X. Li, Y. Aoki, M. Hiratsuka, T. Suormala, E. R. Baumgartner, K. M. Gibson and K. Narisawa Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency (1999) Pediatr Res 46: 671-6.
  14. M. von der Knaap, R. Wevers, S. Kure, F. Gabreels, N. Verhoeven, B. van Raay-Selten and J. Jaaken Increased CSF glycine: A biochemical marker for a leukoencephalopathy with vanishing white matter (1999) J Child Neurol 14: 728-31.

1998年

  1. B. Burwinkel, L. Amat, R. G. Gray, N. Matsuo, K. Muroya, K. Narisawa, R. J. Sokol, M. A. Vilaseca and M. W. Kilimann Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene (1998) Hum Genet 102: 423-9.
  2. M. Hiratsuka, O. Sakamoto, X. Li, Y. Suzuki, Y. Aoki and K. Narisawa Identification of holocarboxylase synthetase (HCS) proteins in human placenta (1998) Biochim Biophys Acta 1385: 165-71.
  3. S. Kure, T. Maeda, N. Fukushima, T. Ohura, K. Takahashi, T. Nishikawa, Y. Matsubara, T. Izumi and K. Narisawa A subtype of pyridoxine-dependent epilepsy with normal CSF glutamate concentration (1998) J Inherit Metab Dis 21: 431-2.
  4. S. Kure, Y. Suzuki, Y. Matsubara, O. Sakamoto, H. Shintaku, G. Isshiki, C. Hoshida, I. Izumi, N. Sakura and K. Narisawa Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11 (1998) Biochem Biophys Res Commun 248: 426-31.
  5. S. Kure, T. Shinka, Y. Sakata, N. Osamu, M. Takayanagi, K. Tada, Y. Matsubara and K. Narisawa A one-base deletion (183delC) and a missense mutation (D276H) in the T- protein gene from a Japanese family with nonketotic hyperglycinemia (1998) J Hum Genet 43: 135-7.
  6. S. Kure, Y. Sakata, S. Miyabayashi, K. Takahashi, T. Shinka, Y. Matsubara, H. Hoshino and K. Narisawa Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy (1998) J Hum Genet 43: 128-31.
  7. S. Kure, H. Mandel, M. O. Rolland, Y. Sakata, T. Shinka, A. Drugan, A. Boneh, K. Tada, Y. Matsubara and K. Narisawa A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia (1998) Hum Genet 102: 430-4.
  8. O. Sakamoto, Yg萇. Suzuki, Y. Aoki, X. Li, M. Hiratsuka, K. Yanagihara, K. Inui, T. Okabe, S. Yamaguchi, J. Kudoh, N. Shimizu and K. Narisawa Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency (1998) J Inherit Metab Dis 21: 873-4.
  9. T. Servidei, Y. Aoki, S. Lewis, A. Symes, S. Fink and S. A. Reeves Coodinate regulation of STAT signaling and c-fos expression by tyrosine phosphatase SHP-2 (1998) J Biol Chem 273: 6233-41.
  10. T. Shinka, S. Kure, Y. Sakata, M. Takayanagi, Y. Matsubara and K. Narisawa Assignment of Gldc encoding glycine decarboxylase to mouse chromosome 19C by in situ hybridization and a CA repeat polymorphism in the Gldc gene (1998) Cytogenet Cell Genet 83: 260-1.
  11. K. Wataya, J. Akanuma, P. Cavadini, Y. Aoki, S. Kure, F. Invernizzi, I. Yoshida, J. Kira, F. Taroni, Y. Matsubara and K. Narisawa Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes (1998) Hum Mutat 11: 377-86.

1997年

  1. Y. Aoki, Y. Suzuki, X. Li, O. Sakamoto, H. Chikaoka, S. Takita and K. Narisawa Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency (1997) Pediatr Res 42: 849-54.
  2. H. Ikeda, Y. Matsubara, H. Mikami, S. Kure, M. Owada, T. Gough, P. M. Smooker, M. Dobbs, H. H. Dahl, R. G. Cotton and K. Narisawa Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients (1997) Hum Genet 100: 637-42.
  3. H. Iwama, K. Takahashi, S. Kure, F. Hayashi, K. Narisawa, K. Tada, M. Mizoguchi, S. Takashima, U. Tomita and T. Nishikawa Depletion of cerebral D-serine in non-ketotic hyperglycinemia: possible involvement of glycine cleavage system in control of endogenous D- serine (1997) Biochem Biophys Res Commun 231: 793-6.
  4. S. Kure, K. Tada and K. Narisawa Nonketotic hyperglycinemia: biochemical, molecular, and neurological aspects (1997) Jpn J Hum Genet 42: 13-22.
  5. S. Kure, Y. Aoki, T. Shinka, Y. Sakata, Y. Matsubara and K. Narisawa Dinucleotide repeat polymorphism in 65K-glutamate decarboxylase gene (1997) J Hum Genet 42: 429-31.
  6. Y. Suzuki and K. Narisawa Purification and properties of bovine and human holocarboxylase synthetases (1997) Methods Enzymol 279: 386-93.
  7. C. Uneyama, H. Uneyama, K. Narisawa, M. Takahashi and N. Akaike Kinetic characteristics of thrombin receptor-mediated responses in rat megakaryocytes (1997) Eur J Pharmacol 319: 299-305.

1996年

  1. K. Narisawa, Y. Suzuki and Y. Aoki [Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients] (1996) Nippon Rinsho 54: 259-67.
  2. Y. Suzuki, Y. Aoki, O. Sakamoto, X. Li, S. Miyabayashi, Y. Kazuta, H. Kondo and K. Narisawa Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo- carboxyl carrier protein as a substrate (1996) Clin Chim Acta 251: 41-52.
  3. K. Takeuchi, S. Kure, T. Kato, Y. Taniyama, N. Takahashi, Y. Ikeda, T. Abe, K. Narisawa, Y. Muramatsu and K. Abe Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome (1996) J Clin Endocrinol Metab 81: 4496-9.

1995年

  1. M. Aoki, K. Abe, K. Houi, M. Ogasawara, Y. Matsubara, T. Kobayashi, S. Mochio, K. Narisawa and Y. Itoyama Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation (1995) Ann Neurol 37: 676-9.
  2. Y. Aoki, Y. Suzuki, O. Sakamoto, X. Li, K. Takahashi, A. Ohtake, R. Sakuta, T. Ohura, S. Miyabayashi and K. Narisawa Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients (1995) Biochim Biophys Acta 1272: 168-74.
  3. K. Hisanaga, S. Kure, D. E. Bredesen, Y. Ikeda, S. Kohsaka and F. R. Sharp Apoptotic cell death of a temperature-sensitive central neuronal cell line (1995) Brain Res 684: 79-86.
  4. Y. Kikawa, M. Inuzuka, B. Y. Jin, S. Kaji, Y. Yamamoto, Y. Shigematsu, A. Nakai, A. Taketo, T. Ohura, H. Mikami, H. Mizunuma, Y. Suzuki, K. Narisawa and M. Sudo Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency (1995) Biochem Biophys Res Commun 210: 797-804.
  5. T. Ohura, K. Narisawa, K. Tada and K. Iinuma A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene (1995) Hum Genet 95: 707-8.
  6. T. Ohura, C. N. Inoue, D. Abukawa, A. T. Chiba, T. Tanaka, H. Kakizawa, S. Miyabayashi, Y. Igarashi, K. Iinuma and K. Narisawa Progressive pulmonary hypertension: a fatal complication of type I glycogen storage disease (1995) J Inherit Metab Dis 18: 361-2.
  7. H. Soda, T. Ohura, I. Yoshida, S. Aramaki, K. Aoki, T. Inokuchi, H. Mikami and K. Narisawa Prenatal diagnosis and therapy for a patient with vitamin B12- responsive methylmalonic acidaemia (1995) J Inherit Metab Dis 18: 295-8.

1994年

  1. J. Aikawa, T. Noro, K. Narisawa and K. Tada Prenatal diagnosis in a new peroxisomal disease by the W-particle separation method (1994) J Inherit Metab Dis 17: 621-5.
  2. M. Aoki, M. Ogasawara, Y. Matsubara, K. Narisawa, S. Nakamura, Y. Itoyama and K. Abe Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS (1994) J Neurol Sci 126: 77-83.
  3. H. Arakawa, K. Uetanaka, M. Maeda, A. Tsuji, Y. Matsubara and K. Narisawa Analysis of polymerase chain reaction-product by capillary electrophoresis with laser-induced fluorescence detection and its application to the diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency (1994) J Chromatogr A 680: 517-23.
  4. Y. Chiba, Y. Suzuki, Y. Aoki, Y. Ishida and K. Narisawa Purification and properties of bovine liver holocarboxylase synthetase (1994) Arch Biochem Biophys 313: 8-14.
  5. M. Imaizumi, K. Gushi, I. Kurobane, S. Inoue, J. Suzuki, Y. Koizumi, H. Suzuki, A. Sato, Y. Gotoh, K. Haginoya, M. Kikuchi, J. Aikawa, K. Narisawa, A. Ohnuma, K. Ohmura, H. Shintani, A. Tanaka and K. Tada Long-term effects of bone marrow transplantation for inborn errors of metabolism: A study of four patients with lysosomal storage diseases (1994) Acta Paediatr Jpn 36: 30-6.
  6. H. Kanno, D. C. Wei, L. C. Chan, H. Mizoguchi, M. Ando, T. Nakahata, K. Narisawa, H. Fujii and S. Miwa Hereditary hemolytic anemia caused by diverse point mutations of pyruvate kinase gene found in Japan and Hong Kong (1994) Blood 84: 3505-9.
  7. T. Kishi, I. Kawamura, Y. Harada, T. Eguchi, N. Sakura, K. Ueda, K. Narisawa and D. S. Rosenblatt Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy (1994) J Inherit Metab Dis 17: 560-5.
  8. M. Ogasawara, Y. †Matsubara, H. Mikami and K. Narisawa Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia (1994) Hum Mol Genet 3: 867-72.
  9. N. Sugiyama, I. Matsuda, Y. Wada, K. Narisawa, M. Kobayashi and K. Kidouchi Urinary propionylcarnitine analysis for monitoring carnitine supplementation in inherited disorders of propionate metabolism (1994) J Inherit Metab Dis 17: 611-5.
  10. Y. Suzuki, Y. Aoki, Y. Ishida, Y. Chiba, A. Iwamatsu, T. Kishino, N. Niikawa, Y. Matsubara and K. Narisawa Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA (1994) Nat Genet 8: 122-8.
  11. K. Takahashi, A. Masamune, S. Kure, Y. Matsubara and K. Narisawa Ectopic transcription: an application to the analysis of splicing errors in phenylalanine hydroxylase mRNA (1994) Acta Paediatr Suppl 407: 45-6.
  12. Y. Yao, Y. Matsubara and K. Narisawa Rapid detection of phenylketonuria mutations by non-radioactive single- strand conformation polymorphism analysis (1994) Acta Paediatr Jpn 36: 231-5.

研究案内

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