Publications

2013年

  1. Chiyonobu, T., N. Inoue, M. Morimoto, T. Kinoshita and Y. Murakami. 2014. GPI anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. J. Med. Genet., 51:203-207.
  2. Ohba, C., N. Okamoto, Y. Murakami, Y. Suzuki, Y. Tsurusaki, M. Nakashima, N. Miyake, F. Tanaka, T. Kinoshita, N. Matsumoto and H. Saitsu. 2013. PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. Neurogenet., 15:85-92.
  3. Kuki, I., Y. Takahashi, S. Okazaki, H. Kawawaki, E. Ebara, N. Inoue, T. Kinoshita and Y. Murakami. 2013. Case report on vitamin B6 responsive epilepsy due to inherited GPI deficiency. Neurology, 81:1467-1469.
  4. Kanakura, Y., K. Ohyashiki, T. Shichishima, S. Okamoto, K. Ando, H. Ninomiya, T. Kawaguchi, S. Nakao, H. Nakakuma, J. Nishimura, T. Kinoshita, C. L. Bedrosian, K. Ozawa and M. Omine. 2013. Long-term efficacy and safety of eculizumab in Japanese patients with PNH: AEGIS trial. Int. J. Hematol., 98:406-416.
  5. Wang, Y., Y. Murakami, T. Yasui, S. Wakana, H. Kikutani, T. Kinoshita and Y. Maeda. 2013. Significance of GPI-anchored protein enrichment in lipid rafts for the control of autoimmunity. J. Biol. Chem., 288:25490-25499.
  6. Krawitz, P. M., B. Hoechsmann, Y. Murakami, B. Teubner, U. Krueger, E. Klopocki, H. Neitzel, A. Hoellein, D. Parkhomchuk, J. Hecht, P. N. Robinson, S. Mundlos, T. Kinoshita and H. Schrezenmeier. 2013. A case of paroxysmal nocturnal hemoglobinuria (PNH) caused by a germline mutation and a somatic mutation in PIGT. Blood, 122:1312-1315.
  7. Hirata, T., M. Fujita, N. Kanzawa, Y. Murakami, Y. Maeda and T. Kinoshita. 2013. Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability. J. Biochem., 154:257-264.
  8. Inoue, N. and T. Kinoshita. 2013. Map5: Biosynthetic pathway of GPI-Anchor. In Handbook of Glycosyltransferases and Related Genes, 2nd ed., N. Taniguchi, K. Honke, M. Fukuda, H. Narimatsu, Y. Yamaguchi, T. Angata (eds.) Springer
  9. Kinoshita, T. and N. Inoue. 2013. GPI mannose extension (PIGM, PIGV, PIGB, PIGZ). In Handbook of Glycosyltransferases and Related Genes, 2nd ed., N. Taniguchi, K. Honke, M. Fukuda, H. Narimatsu, Y. Yamaguchi, T. Angata (eds.) Springer
  10. Inoue, N., Y. Murakami and T. Kinoshita. 2013. Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GlcNAc trasnferase): A complex comprised of PIGA, PIGC, PIGH, PIGQ, PIGP, PIGY and DPM2. In Handbook of Glycosyltransferases and Related Genes, 2nd ed., N. Taniguchi, K. Honke, M. Fukuda, H. Narimatsu, Y. Yamaguchi, T. Angata (eds.) Springer
  11. Krawitz, P. M., Y. Murakami, A. Riess, M. Hietala, U. Krueger, N. Zhu, T. Kinoshita, S. Mundlos, J. Hecht, P. N. Robinson and D. Horn. 2013. PGAP2 mutations, affecting the GPI-anchor-synthesis-pathway, cause hyperphosphatasia with mental retardation syndrome. Am. J. Hum. Genet., 92:584-589.
  12. Hansen, L., H. Tawamie*, Y. Murakami*, Y. Mang*, S. ur Rehman*, R. Buchert, S. Schaffer, S. Muhammad, M. Bak, M. M. Noethen, E. P. Bennett, Y. Maeda, M. Aigner, A. Reis, T. Kinoshita, N. Tommerup, S. M. Baig, R. A. Jamra. 2013. Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am. J. Hum. Genet., 92:575-583.
  13. Fukuda, T., T. Matsumura, M. Ato, M. Hamasaki, Y. Nishiuchi, Y. Murakami, Y. Maeda, T. Yoshimori, S. Matsumoto, K. Kobayashi, T. Kinoshita, and Y. S. Morita. 2013. Critical roles for lipomannan and lipoarabinomannan in cell wall integrity of mycobacteria and pathogenesis of tuberculosis. mBio, 4:e00472-12.
  14. Seong, J., Y. Wang, T. Kinoshita and Y. Maeda. 2013. Implication of lipid moiety in oligomerization and immunoreactivities of GPI-anchored proteins. J. Lipid Res., 54:1077-1091.
  15. Kinoshita, T., Y. Maeda and M. Fujita. 2013. Transport of glycosylphosphatidylinositol-anchored proteins from the endoplasmic reticulum. Biochim. Biophys. Acta - Mol. Cell Res., 1833:2473-2478.
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