Publications

2014年

  1. Tokunaga, M., C. Kokubu, Y. Maeda, K. Horie, N. Sugimoto, T. Kinoshita K. Yusa and J. Takeda. 2014. Simulation and estimation of gene number in a biological pathway using almost complete saturation mutagenesis screening of haploid mouse cells. BMC Genomics, 15:1016.
  2. Stokes, M., Y. Murakami, Y. Maeda, T. Kinoshita and Y. S. Morita. 2014. New insights to the functions of PIGF, a protein involved in the ethanolamine phosphate transfer steps of glycosylphosphatidylinositol biosynthesis. Biochem. J., 463:249-256.
  3. Kinoshita, T. 2014. Enzymatic mechanism of GPI anchor attachment clarified. Cell Cycle, 13:1838-1839.
  4. Murakami, Y. and T. Kinoshita. 2014. Congenital disorders of glycosylation: glycosylphosphatidylinositol (GPI)-related. In Glycoscience: Biology and Medicine., N. Taniguchi, T. Endo, G. W. Hart, P. Seeberger, C. H. Wong (eds.), p1229-1236, Springer.
  5. Nakashima, M., H. Kashii, Y. Murakami, M. Kato, Y. Tsurusaki, N. Miyake, M. Kubota, T. Kinoshita, H. Saitsu, N. Matsumoto. 2014. Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. Neurogenet., 15:193-200.
  6. Murakami, Y., R. Buchert, Y. Maeda, F. Radwan, H. Tawamie, S. Schaffer, H. Sticht, M. Aigner, A. Reis, T. Kinoshita and R. A. Jamra. 2014. Null mutation in PGAP1 impairs GPI-anchor maturation and causes severe non-syndromic recessive intellectual disability. PLoS Genet., 10(5):e1004320.
  7. Theiler, R., M. Fujita, M. Nagae, Y. Yamaguchi, Y. Maeda and T. Kinoshita. 2014. The alpha helical region in p24_2 subunit of p24 cargo receptor is pivotal for the recognition and transport of glycosylphosphatidylinositol-anchored proteins. J Biol. Chem., 289：16835－16843.
  8. Kato, M., H. Saitsu, Y. Murakami, K. Kikuchi, S. Watanabe, M. Iai, K. Miya, R. Matsuura, R. Takayama, C. Ohba, M. Nakashima, Y. Tsurusaki, N. Miyake, S. Hamano, H. Osaka, K. Hayasaka, T. Kinoshita and N. Matsumoto. 2014. PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. Neurology, 82(18):1587-96.
  9. Kinoshita, T. 2014. Biosynthesis and deficiencies of glycosylphosphatidylinositol. Proc. Jpn. Acad. Ser.B, 90:130-143.
  10. Nishimura, J., M. Yamamoto, S. Hayashi, K. Ohyashiki, K. Ando, A. L. Brodsky, H. Noji, K. Kitamura, T. Eto, T. Takahashi, M. Masuko, T. Matsumoto, Y. Wano, T. Shichishima, H. Shibayama, M. Hase, L. Li, K. Johnson, A. Lazarowski, P. Tamburini, J. Inazawa, T. Kinoshita and Y. Kanakura. 2014. Genetic variants in C5 and poor response to eculizumab. N. Eng. J. Med., 370:632-639.
  11. Ueda, Y., J. Nishimura, Y. Murakami, S, Kajigaya, T. Kinoshita, Y. Kanakura and N. S. Young. 2014. Paroxysmal nocturnal hemoglobinuria with copy number-neutral 6pLOH in GPI (+) but not in GPI (-) granulocytes. Eur. J. Haematol., 92:450-453.
  12. Martin, H. C., G. Kim, A. T. Pagnamenta, Y. Murakami, G. Carvill, E. Meyer, R. Copley, A. Rimmer, G. Barcia, M. Fleming, J. Kronengold, M. R. Brown, K. A. Hudspith, J. Broxholme, A. Kanapin, J.-B. Cazier, T. Kinoshita, R. Nabbout, The WGS600 Consortium, D. Bentley, G. McVean, S. Heavin, Z. Zaiwalla, T. McShane, H. Mefford, D. Shears, H. Stewart, M. A. Kurian, I. E. Scheffer, E. Blair, P. Donnelly, L. K. Kaczmarek and J. Taylor. 2014. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum. Mol. Genet., 23:3200-3211.
  13. Nakamura, K., H. Osaka, Y. Murakami, R. Anzai, K. Nishiyama, H. Kodera, M. Nakashima, Y. Tsurusaki, N. Miyake, T. Kinoshita, N. Matsumoto, H. Saitsu.　2014. PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. Epilepsia. 55(2):e13-e17.
  14. Howard, M. F., Y. Murakami, A. T. Pagnamenta, C. Daumer-Haas, B. Fischer, J. Hecht, D. A. Keays, S. J. L. Knight, U. Kaelsch, U. Krueger, S. Leiz, Y. Maeda, D. Mitchell, S. Mundlos, J. A. Phillips III, P. N. Robinson, U. Kini, J. C. Taylor, D. Horn, T. Kinoshita, P. M. Krawitz. 2014. Mutations in PGAP3 impair GPI-anchor maturation causing a new subtype of hyperphosphatasia with intellectual disability. Am. J. Hum. Genet., 94:278-287.
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