主な論文
Chiyonobu, T., N. Inoue, M. Morimoto, T. Kinoshita and Y. Murakami. 2014. Glycosylphosphatidylinositol (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.
Howard, M. F., Y. Murakami, A. T. Pagnamenta, C. Daumer-Haas, B. Fischer, J. Hecht, D. A. Keays, S. J. L. Knight, U. Kölsch, U. Krüger, 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.
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.
Fujiwara, I., Y. Murakami, T. Niihori, J. Kanno, A. Hakoda, O. Sakamoto, N. Okamoto, R. Funayama, T. Nagashima, K. Nakayama, T. Kinoshita, S. Kure, Y. Matsubara, and Y. Aoki. Mutations in PIGL in a patient with Mabry syndrome. 2015. Am J Med Genet, 167A:777-785.
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, 82:1587-1596.
Murakami, Y., H. Tawamie, Y. Maeda, C. Buttner, R. Buchert, F. Radwan, S. Schaffer, H. Sticht, M. Aigner, A. Reis, T. Kinoshita and R. A. Jamra. 2014. Null mutation in PGAP1 impairs GPI-anchor maturation in patients with intellectual disability and encephalopathy. PLoS Genet., 10(5):e1004320.
Theiler, R., M. Fujita, M. Nagae, Y. Yamaguchi, Y. Maeda and T. Kinoshita. 2014. The alpha helical region in p24γ2 subunit of p24 cargo receptor is pivotal for the recognition and transport of glycosylphosphatidylinositol-anchored proteins. J Biol. Chem., 289:16835-16843.
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.
Bosch, D.G.M, F.N. Boonstra, T. Kinoshita, J. de Ligt, F.P.M. Cremers, J.R. Lupski, Y. Murakami and B.B.A. de Vries. 2015. Cerebral visual impairment and intellectual disability caused by PGAP1 mutations. Eur. J. Hum. Genet., 23:1689-1693.
Bosch, D.G.M, F.N. Boonstra, T. Kinoshita, J. de Ligt, F.P.M. Cremers, J.R. Lupski, Y. Murakami and B.B.A. de Vries. 2015. Cerebral visual impairment and intellectual disability caused by PGAP1 mutations. Eur. J. Hum. Genet., 23:1689-1693.
Ilkovski, B. A., T. Pagnamenta, G. L. O’Grady, T. Kinoshita, M. F. Howard, M. Lek, B. Thomas, A. Turner, J. Christodoulou, D. Sillence, S. J.L. Knight, N. Popitsch, D. A. Keays, C. Anzilotti, A. Goriely, L. B. Waddell, F. Brilot, K. N. North, N. Kanzawa, D. G. MacArthur, J. C. Taylor, U. Kini1, Y. Murakami and N. F. Clarke. 2015. Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. Hum. Mol. Genet., 24:6146-6159.
Makrythanasis P., M. Kato, M. Zaki, H. Saitsu, K. Nakamura, F. Santoni, S. Miyatake, M. Nakashima, M. Y. Issa, M. Guipponi, A. Letourneau, C. Logan, N. Roberts, D. A. Parry, C. A. Johnson, N. Matsumoto, H. Hamamy, E. Sheridan, T. Kinoshita, S. E. Antonarakis and Y. Murakami. 2016. Pathogenic variants in PIGG cause intellectual disability with seizures and hypotonia. Am. J. Hum. Genet., 98:615-626.
Knaus, A., T. Awaya, I. Helbig, Z. Afawi, M. Pendziwiat, J. Abu-Rachma, M. Thompson, D. Cole, S. Skinner, F. Annese, N. Canham, M. Schweiger, P. N. Robinson, S. Mundlos, T. Kinoshita, A. Munnich, Y. Murakami, D. Horn and P. Krawitz. 2016. Rare non-coding mutations extend the mutational spectrum in the PGAP3 subtype of Hyperphosphatasia with Mental Retardation Syndrome. Hum. Mutat., 37:737-744.
Nagae, M., T. Hirata, K. Morita-Matsumoto, R. Theiler, M. Fujita, T. Kinoshita and Y. Yamaguchi. 2016. 3D structure and interaction of p24 and p24 Golgi dynamics domains: implication for p24 complex formation and cargo transport. J. Mol. Biol., 428:4087-4099.
Hogrebe, M., Y. Murakami, M. Wild, M. Ahlmann, S. Biskup, K. Hoertnagel, M. Grueneberg, J. Reunert, T. Linden, T. Kinoshita and T. Marquardt. 2016. A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia. Am. J. Med. Genet. A, 170:3319-3322.
Edvardson, S., Y. Murakami, T. T. M. Nguyen, M. Shahrour, A. St-Denis, A. Shaag, N. Damseh, S. Chiang Cern Cher, F. Le Deist, Y. Bryceson, B. Abu-Libdeh, P. M. Campeau, T. Kinoshita and O. Elpeleg. 2016. Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability. J. Med. Genet., 54:196-201.
Lee, G-H., M. Fujita, K. Takaoka, Y. Murakami, Y. Fujihara, N. Kanzawa, K. Murakami, E. Kajikawa, Y. Takada, K. Saito, M. Ikawa, H. Hamada, Y. Maeda and T. Kinoshita. 2016. A GPI processing phospholipase A2, PGAP6, modulates Nodal signaling in embryos by shedding CRIPTO. J. Cell Biol., 215:705-718.
Kolicheski, A. L., G. S. Johnson, T. Mhlanga-Mutangadura, J. F. Taylor, R. D. Schnabel, T. Kinoshita, Y. Murakami, D. P. O’Brien. 2016. A homozygous PIGN missense mutation in soft coated wheatenterriers with a canine paroxysmal non-kinesigenic dyskinesia. Neurogenetics, in press.
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., in press.
Ihara, S., S. Nakayama, Y. Murakami, E. Suzuki, M. Asakawa, T. Kinoshita and H. Sawa. 2017. PIGN prevents protein aggregation in the endoplasmic reticulum independently of its function in the GPI synthesis. J. Cell Sci., 130:602-613.
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 p242 Golgi Dynamics (GOLD) domain. Proteins: Structure, Function and Bioinformatics, in press.
Johnstone, D. L., T. Tuyet-Mai Nguyen*, Y. Murakami*, K. D. Kernohan, M. Tétreault, 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., in press.
受賞・表彰
| 2001 |
第１９回大阪科学賞 |
| 2010 |
文部科学大臣表彰（科学技術賞：研究部門） |
| 2015 |
IGO Award (International Glycoconjugate Organization) |
| 2017 |
武田医学賞 |
| 2017 |
第4回日本免疫学会ヒト免疫研究賞 |
| 2018 |
紫綬褒章 |
