Publications

2017年

  1. Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lönnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM. 2017 Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. Am J Hum Genet. Nov 2;101(5):856-865.

  2. Kohashi, K., A. Ishiyama, S. Yuasa, T. Tanaka, K. Miya, Y. Adachi, N. Sato, H. Saitsu, C. Ohba, N. Matsumoto, Y. Murakami, T. Kinoshita, K. Sugai and M. Sasaki. 2017. Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations. Brain Dev.,
  3. Colley, K. J., A. Varki and T. Kinoshita. 2017. Cellular Organization of Glycosylation. In Essentials of Glycobiology 3rd ed. Varki, A., Cummings, R.D., Esko, J.D., Stanley, P., Hart, G.W., Aebi, M., Darvill, A., Kinoshita, T., Packer, N.J., Prestegard, J., Schnaar, R., Seeberger, P. (eds.), p41-49. Cold Spring Harbor Laboratory Press: Cold Spring Harbor, NY.
  4. Schnaar, R. L. and T. Kinoshita. 2017. Glycosphingolipids. In Essentials of Glycobiology 3rd ed. Varki, A., Cummings, R.D., Esko, J.D., Stanley, P., Hart, G.W., Aebi, M., Darvill, A., Kinoshita, T., Packer, N.J., Prestegard, J., Schnaar, R., Seeberger, P. (eds.), p125-135. Cold Spring Harbor Laboratory Press: Cold Spring Harbor, NY.
  5. Ferguson, M. A. J., G. W. Hart and T. Kinoshita. 2017. Glycosylphosphatidylinositol anchors. In Essentials of Glycobiology 3rd ed. Varki, A., Cummings, R.D., Esko, J.D., Stanley, P., Hart, G.W., Aebi, M., Darvill, A., Kinoshita, T., Packer, N.J., Prestegard, J., Schnaar, R., Seeberger, P. (eds.), p137-150. Cold Spring Harbor Laboratory Press: Cold Spring Harbor, NY.
  6. Freeze, H. H., T. Kinoshita and R. L. Schnaar. 2017. Genetic disorders of glycan degradation. In Essentials of Glycobiology 3rd ed. Varki, A., Cummings, R.D., Esko, J.D., Stanley, P., Hart, G.W., Aebi, M., Darvill, A., Kinoshita, T., Packer, N.J., Prestegard, J., Schnaar, R., Seeberger, P. (eds.), p553-568. Cold Spring Harbor Laboratory Press: Cold Spring Harbor, NY.
  7. Freeze, H. H., H. Schachter and T. Kinoshita. 2017. Genetic disorders of glycosylation. In Essentials of Glycobiology 3rd ed. Varki, A., Cummings, R.D., Esko, J.D., Stanley, P., Hart, G.W., Aebi, M., Darvill, A., Kinoshita, T., Packer, N.J., Prestegard, J., Schnaar, R., Seeberger, P. (eds.), p569-582. Cold Spring Harbor Laboratory Press: Cold Spring Harbor, NY.
  8. Freeze, H. H., T. Kinoshita and A. Varki. 2017. Glycans in acquired human diseases. In Essentials of Glycobiology 3rd ed. Varki, A., Cummings, R.D., Esko, J.D., Stanley, P., Hart, G.W., Aebi, M., Darvill, A., Kinoshita, T., Packer, N.J., Prestegard, J., Schnaar, R., Seeberger, P. (eds.), p583-595. Cold Spring Harbor Laboratory Press: Cold Spring Harbor, NY.
  9. Hill, A., A. E. DeZern, T. Kinoshita and R. A. Brodsky. 2017. Paroxysmal Nocturnal Haemoglobinuria. Nat. Rev. Dis. Prime., 3: 17028.
  10. Tanaka, A., U. Tumkosit, S. Nakamura, D. Motooka, N. Kishishita, T. Priengprom, A. Sa-Ngasang, T. Kinoshita, N. Takeda and Y. Maeda. 2017. Genome-wide screening uncovers the significance of N-sulfation of heparan sulfate as a host cell factor for chikungunya virus infection. J. Virol., 91: pii: e00432-17.
  11. Tanigawa, J., H. Mimatsu, S. Mizuno, N. Okamoto, D. Fukushi, K. Tominaga, H. Kidokoro, Y. Muramatsu, E. Nishi, S. Nakamura, D. Motooka, N. Nomura, K. Hayasaka, T. Niihori, Y. Aoki, S. Nabatame, M. Hayakawa, J. Natsume, K. Ozono, T. Kinoshita, N. Wakamatsu and Y. Murakami. 2017.　Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties. Hum. Mutat., 38:805-815.
  12. Johnstone, D. L., T. Tuyet-Mai Nguyen*, Y. Murakami*, K. D. Kernohan, M. Treault, C. Goldsmith, A. Doja, J. D. Wagner, L. Huang, T. Hartley, A. St-Denis, F. le Deist, J. Majewski, D. E. Bulman, Care4Rare Canada Consortium, T. Kinoshita, D. A. Dyment, K. M. Boycott and P. M. Campeau. 2017. Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. Hum. Mol. Genet., 26:1706-1715.
  13. Pagnamenta, A. T. , M. F. Howard, J. M. Taylor, V. Miller, D. S. Johnson, S. Tadros, S. Mansour, I. K. Temple, R. Firth, E. Rosser, R. Harrison, B. Kerr, N. Popitsch, The Deciphering Developmental Disorders Study, Y. Murakami, T. Kinoshita, J. C. Taylor, U. Kini. 2016. Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. Eur. J. Hum. Genet., 25:669-679.
  14. Nagae, M., D. Liebschner, Y. Yamada, K. Morita-Matsumoto, N. Matsugaki, T. Senda, M. Fujita, T. Kinoshita and Y. Yamaguchi. 2017. Crystallographic analysis of murine p24ｳ2 Golgi Dynamics (GOLD) domain. Proteins, 85:764-770.
  15. Realegeno, S., A. S Puschnik, A. Kumar, C. Goldsmith, J. Burgado, S. Sambhara, V. A. Olson, D. Carroll, I. Damon, T. Hirata, T. Kinoshita, J. E Carette, P. S. Satheshkumar. 2017. Monkeypox virus host factor screen in haploid cells identifies essential role of GARP complex in extracellular virus formation. J. Virol., in press.
  16. Maeda, Y., Y. Murakami and T. Kinoshita. 2017. Synthesis, genetics and congenital diseases of GPI-anchored proteins. In Paroxysmal Nocturnal Hemoglobinuria-From bench to Bedside. Y. Kanakura, T. Kinoshita and J.-i. Nishimura (eds.), p11-54. Springer Japan.
  17. Murakami, Y. and T. Kinoshita. 2017. Animal models of paroxysmal nocturnal hemoglobinuria. In Paroxysmal Nocturnal Hemoglobinuria-From bench to Bedside. Y. Kanakura, T. Kinoshita and J.-i. Nishimura (eds.), p55-65. Springer Japan.
  18. Inoue, N. and T. Kinoshita. 2017. Pathogenesis of Clonal Dominance in PNH; Growth Advantage in PNH. In Paroxysmal Nocturnal Hemoglobinuria-From bench to Bedside. Y. Kanakura, T. Kinoshita and J.-i. Nishimura (eds.), p229-251. Springer Japan.
  19. Nishimura, J.-i., T. Kinoshita and Y. Kanakura. 2017. Clinical effects of eculizumab in PNH; Poor-responders to eculizumab. In Paroxysmal Nocturnal Hemoglobinuria-From bench to Bedside. Y. Kanakura, T. Kinoshita and J.-i. Nishimura (eds.), p297-306. Springer Japan.
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