Publications

2022年

 

  1. Tashima, Y., T. Hirata, Y. Maeda, Y. Murakami and T. Kinoshita. 2022. Differential use of p24 family members as cargo receptors for the transport of glycosylphosphatidylinositol-anchored proteins and Wnt1. J. Biochem., 171:75-83.

  2. Hirata, T., A. Kobayashi, T. Furuse, I. Yamada, M. Tamura, H. Tomita, Y. Tokoro, A. Ninomiya, Y. Fujihara, M. Ikawa, Y. Maeda, Y. Murakami, Y. Kizuka* and T. Kinoshita*. 2022. Loss of the N-acetylgalactosamine side chain of the GPI-anchor impairs bone formation and brain functions and accelerates the prion disease pathology. J. Biol. Chem., 298: 101720

  3. Salian, S., X.-Y. Guo, Y. Murakami, T. Kinoshita, P. Kaur, A. Shukla, K. M. Girisha, M. Fujita and P. M. Campeau. 2022. C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.  Hum. Genet., 141:1423-1429.

  4. Wang, Y., A. K. Menon, Y. Maki, Y.-S. Liu, Y. Iwasaki, M. Fujita, P. A. Guerrero, D. Varón Silva, P. H. Seeberger, Y. Murakami and T. Kinoshita enome-wide CRISPR screen reveals CLPTM1L as a lipid scramblase required for efficient glycosylphosphatidylinositol biosynthesis.  Proc. Natl. Acad. Sci. USA, 119(14): e2115083119

  5. Ishida, M., Y. Maki, A. Ninomiya, Y. Takada, P. Campeau, T. Kinoshita and Y. Murakami. 2022. Ethanolamine-phosphate on the second mannose is a preferential bridge for some GPI-anchored proteins.  EMBO Rep., e54352.

  6. Kuwayama, R., K. Suzuki, Y. Yoshioka, M. Ikawa, K. Inoue, M. Fujiwara,T. Kinoshita and Y. Murakami. 2022. Establishment of a mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapy with genome editing.  Nat. Commun., 13:3107.

  7. Hirata, T., J. Yang, S. Tomida, Y. Tokoro, T. Kinoshita, M. Fujita and Y. Kizuka. 2022.ER entry pathway and glycosylation of GPI-anchored proteins are determined by N-terminal signal sequence and C-terminal GPI-attachment sequence.  J. Biol. Chem., 298:102444.

  8. Shichinohe, N., D. Kobayashi, A. Izumi, I. Hatanaka, R. Fujita, T. Kinoshita, N. Inoue, N. Hamaue, K. Wada and Y. Murakami. 2022. equential hydrolysis of FAD by ecto-5’ nucleotidase CD73 and alkaline phosphatase is required for uptake of vitamin B2 into cells.  J. Biol. Chem., 298:102640.

  9. Loong, L., A. Tardivo, A. Knaus, M. Hashim, A. T. Pagnamenta, K. Alt, H. Böhrer-Rabel, A. Caro-Llopis, T. Cole, F. Distelmaier, P. Edery, C. R. Ferreira, A. Jezela-Stanek, B. Kerr, G. Kluger, P. M. Krawitz, M. Kuhn, J. R. Lemke, G. Lesca, S. A. Lynch, F. Martinez, C. Maxton, H. Mierzewska, S. Monfort, J. Nicolai, C. Orellana, D. K. Pal, R. Płoski, O. W. Quarrell, M. Rosello, M. Rydzanicz, A. Sabir, R. Śmigiel, A. P. A. Stegmann, H. Stewart, C. Stumpel, E. Szczepanik, A. Tzschach, L. Wolfe, J. C. Taylor, Y. Murakami, T. Kinoshita, A. Bayat and U. Kini. 2022. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurological phenotypes: A genotype-phenotype correlation study.  Genet. Med., 25(1):37-48.

  10. Salinas-Marín, R., Y. Murakami, C. A.González-Domínguez, M. E. Cruz-Munoz, H. M. Mora-Montes, E. Morava, T. Kinoshita, S. Monroy-Santoyo and I. Martínez-Duncker. 2022. Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon.  Front. Genet., 13:971473.

  11. Colley, K. J., A. Varki, R. S. Haltiwanger and T. Kinoshita. 2022. Cellular organization of glycosylation. In Essentials of Glycobiology 4th ed. Varki, A., Cummings, R.D., Esko, J.D., Stanley, P., Hart, G.W., Aebi, M., Darvill, A., Kinoshita, T., Packer, N.J., Prestegard, J., Schnaar, R., Seeberger, P. (eds.), p43-51. Cold Spring Harbor Laboratory Press: Cold Spring Harbor, NY.

  12.  Schnaar, R. L., R. Sandhoff, M. Tiemeyer, and T. Kinoshita. 2022. Glycosphingolipids.In Essentials of Glycobiology 4th ed. Varki, A., Cummings, R.D., Esko, J.D., Stanley, P., Hart, G.W., Aebi, M., Darvill, A., Kinoshita, T., Packer, N.J., Prestegard, J., Schnaar, R., Seeberger, P. (eds.), p129-139. Cold Spring Harbor Laboratory Press: Cold Spring Harbor, NY.

  13. Komath, S. S., M. Fujita, G. W. Hart, M. A. J. Ferguson T. Kinoshita. 2022. Glycosylphosphatidylinositol anchors.In Essentials of Glycobiology 4th ed. Varki, A., Cummings, R.D., Esko, J.D., Stanley, P., Hart, G.W., Aebi, M., Darvill, A., Kinoshita, T., Packer, N.J., Prestegard, J., Schnaar, R., Seeberger, P. (eds.), p141-154. Cold Spring Harbor Laboratory Press: Cold Spring Harbor, NY.

  14. Freeze, H. H., R. Steet, T. Suzuki, T. Kinoshita and R. L. Schnaar. 2022.Genetic disorders of glycan degradation.In Essentials of Glycobiology 4th ed. Varki, A., Cummings, R.D., Esko, J.D., Stanley, P., Hart, G.W., Aebi, M., Darvill, A., Kinoshita, T., Packer, N.J., Prestegard, J., Schnaar, R., Seeberger, P. (eds.), p583-598. Cold Spring Harbor Laboratory Press: Cold Spring Harbor, NY.

  15. Lefeber, D. J. H. H. Freeze, R. Steet and T. Kinoshita. 2022. Congenital disorders of glycosylation. In Essentials of Glycobiology 4th ed. Varki, A., Cummings, R.D., Esko, J.D., Stanley, P., Hart, G.W., Aebi, M., Darvill, A., Kinoshita, T., Packer, N.J., Prestegard, J., Schnaar, R., Seeberger, P. (eds.), p599-614. Cold Spring Harbor Laboratory Press: Cold Spring Harbor, NY.

  16. Sackstein, R., K. M. Hoffmeister, S. R. Stowell, T. Kinoshita, A. Varki,and H. H. Freeze. 2022. Glycans in acquired human diseases.In Essentials of Glycobiology 4th ed. Varki, A., Cummings, R.D., Esko, J.D., Stanley, P., Hart, G.W., Aebi, M., Darvill, A., Kinoshita, T., Packer, N.J., Prestegard, J., Schnaar, R., Seeberger, P. (eds.), p615-629. Cold Spring Harbor Laboratory Press: Cold Spring Harbor, NY.

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