Publications

2020年

  1. Kinoshita, T. 2020. Biosynthesis and biology of mammalian GPI-anchored proteins. Open Biol., 10: 190290.

  2. Thompson, M., A. Knaus, A. Caliebe, H. Muhle, M. Nguyen, N. Baratang, T. Kinoshita, M. Percy, P. Campeau, Y. Murakami, P. Krawitz, D. Cole, and C. Mabry. 2020. A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: molecular genetics of the prototypical inherited GPI disorder.Eur. J. Med. Genet. , in press.

  3. Wang, Y., Y. Maeda, Y.-S. Liu, Y. Takada, A. Ninomiya, T. Hirata, M. Fujita, Y. Murakami, and T. Kinoshita. 2020. Cross-talks of glycosylphosphatidylinositol biosynthesis with glycosphingolipid biosynthesis and ER-associated degradation. Nat. Commun., 11:860.

  4. Nguyen, T. T. M., Y. Murakami, S. Mobilio, M. Niceta, G. Zampino, C. Philippe, S. Moutton, M. S. Zaki, K. James, D. Musaev, W. Mu, K. Baranano, J. R. Nance, J. A. Rosenfeld, N. Braverman, A. Ciolfi, F. Millan, R. E. Person, A.-L. Bruel, C. Thauvin-Robinet, A. Ververi, C. DeVile, A. Male, S. Efthymiou, R. Maroofian, H. Houlden, S. Maqbool, F. Rahman, N. V. Baratang, J. Rousseau, A. St-Denis, M. J. Elrick, I. Anselm, L.H. Rodan, M. Tartaglia, J. Gleeson, T. Kinoshita and P. M. Campeau.2020. Bi-allelic variants in the GPI transamidase subunit PIGK cause a neurodevelopmental syndrome with hypotonia and cerebellar atrophy and epilepsy. Am. J. Hum. Genet., in press.

  5. Kobayashi, A.*, T. Hirata*, T. Nishikaze, A. Ninomiya, Y. Maki, Y. Takada, T. Kitamoto and T. Kinoshita. 2020. a2, 3-linkage of sialic acid to a GPI-anchor and an unpredicted GPI attachment site in human prion protein. J. Biol. Chem., 295(22):7789-7798.

  6. Lee, G.-H., M. Fujita, H. Nakanishi, H. Miyata, M. Ikawa, Y. Maeda, Y. Murakami and T. Kinoshita. 2020. PGAP6, a GPI-specific phospholipase A2, has narrow substrate specificity against GPI-anchored proteins. J. Biol. Chem., 295(42):14501-14509.

  7. Langemeijer, S., C. Schaap, F. Preijers, J. H. Jansen, N. Blijlevens, N. Inoue, P. Muus, T. Kinoshita and Y. Murakami. 2020. Paroxysmal nocturnal hemoglobinuria caused by CN-LOH of constitutional PIGB mutation and 70-kb microdeletion on 15q. Blood Adv., 4(22):5755-5761.

  8. Guo, X.-Y., Y.-S. Liu, X.-Dong Gao, T. Kinoshita and M. Fujita. 2020. Calnexin mediates the maturation of GPI-anchors through ER retention. J. Biol. Chem., in press.

  9. Okuda, T., T. Yonekawa, Y. Murakami, T. Kinoshita, K. Matsushita, Y. Koike, M. Inoue, K. Uchida, N. Yodoya, H. Ohashi, H. Sawada, S. Iwamoto, Y. Mitani and M. Hirayama. 2020. PIGO variants in a boy with features of Mabry syndrome who also exhibits Fryns syndrome with peripheral neuropathy. Am. J. Med. Genet. A, in press.

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