Immunoglycobiology

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We have these major projects, "GPI" as a Key Word.

Principal Investigator

Taroh Kinoshita Professor

Research field:Immunology, Biochemistry
+81-6-6879-8328
tkinoshi atmark biken.osaka-u.ac.jp
Education history
1970-1974 Faculty of Agriculture, University of Tokyo, Tokyo, Japan (B.Agr. 1974)
1974-1977 Graduate School of Agricultural Sciences, University of Tokyo (M.Agr. 1977)
1977-1981 Graduate School, Osaka University Medical School, Osaka Japan (Ph.D. 1981)
Research and career history

1981-1982 Postdoctoral Fellow, supported by a postdoctoral fellowship from the Japan Society for the Promotion of Science
1982 Research Associate, Department of Bacteriology, Osaka University Medical School, Osaka, Japan
1982-1985 Postdoctoral Research Associate, Department of Pathology, New York University School of Medicine, New York NY
1985-1988 Research Associate, Department of Bacteriology, Osaka University Medical School.
1988-1990 Assistant Professor, Department of Bacteriology, Osaka University Medical School.
1990-present Professor, Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University
1998-2003 Director, Genome Information Research Center, Osaka University
2003-2007 Director, Research Institute for Microbial Diseases, Osaka University
2007-2017 Professor, Laboratory of Immunoglycobiology, WPI Immunology Frontier Research Center, Osaka University
2017- Endowed Chair Professor, Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University

Members

Yoshiko Murakami Professor
yoshikoh atmark biken.osaka-u.ac.jp
 
 

Achievements

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 p242 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.

Prize

2001 The 19th Osaka Science Prize
2010 Commendation for Science and Technology by MEXT (Prizes for Science and Technology)
2015 IGO Award (International Glycoconjugate Organization)
2017 Takeda Prize for Medical Science