糖鎖免疫学

Immunoglycobiology

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当研究分野ではGPIをキーワードに以下の研究を進めている。

主任研究者

木下 タロウ 教授

研究内容: 免疫学、生化学
06-6879-8328
tkinoshibiken.osaka-u.ac.jp
学 歴
1970. 4 東京大学教養学部理科II類入学
1974. 3 大阪大学医学研究科博士課程修了
1977. 3 東京大学大学院農学系研究科修士課程修了、農学修士
1981. 3 大阪大学大学院医学研究科博士課程修了、医学博士
職 歴

1981.4 日本学術振興会奨励研究員
1982.2 大阪大学助手、医学部細菌学教室
1982.9-1985.8 ニューヨーク大学医学部にて海外研修
1988.4 大阪大学講師、医学部細菌学教室
1990.10-2017.3 大阪大学教授、微生物病研究所 免疫不全疾患研究分野
1998.7 大阪大学遺伝情報実験施設長(併任)
2001.4-2003. 10 大阪大学遺伝情報実験センター長(併任)
2001.1-2007. 10 大阪大学評議員(併任)
2003.10-2007. 10 大阪大学微生物病研究所 所長
2007.11-現在に至る 大阪大学教授,免疫学フロンティア研究センター、糖鎖免疫学研究室
2017.4- 大阪大学寄附研究部門教授、微生物病研究所 籔本難病解明寄附研究部門

メンバー

村上 良子 教授
yoshikohbiken.osaka-u.ac.jp
 
 

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 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.

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