Publications

2021年

  1. Salian, S., H. Benkerroum, T. T. M. Nguyen, S. Nampoothiri, T. Kinoshita, T. M. Félix, F. Stewart, S. M. Sisodiya, Y. Murakami and P. M. Campeau. 2021. PIGF deficiency causes a phenotype overlapping with DOORS syndrome. Hum. Genet., 140(6):879-884.

  2. Tremblay-Laganière, C., Thi Tuyet Mai Nguyen, R. Maroofian, E. Ghayoor Karimiani, S. Kirmani, F. Akbar, S. Ibrahim, B. Afroze, M. Doosti, F. Ashrafzadeh, M. Babaei, S. Efthymiou, T. Sultan, R. L. Ladda, H. M. McLaughlin, R. Truty, S. Mahida, J. Cohen, K. Baranano, F. Ismail, M. S. Patel, A. Lehman, A. C. Edmondson, A. Nagy, M. A. Walker, S. Mercimek-Andrews, Y. Maki, R. Sachdev, R. Macintosh, E. E. Palmer, G. M. S. Mancini, T. Stefan Barakat, R. Steinfeld, C. Rüsch, G. Stettner, M. Wagner, S. B. Wortmann, U. Kini, A. F. Brady, K. L. Stals, N. Ismayilova, S. Ellard, H. Houlden, T. Kinoshita, P. M. Campeau and Y. Murakami. 2021. PIGG variant pathogenicity assessment reveals characteristic features within 19 families Genet. Med., Jun 10.

  3. Duval, R., G. Nicolas, A. Willemetz, Y. Murakami, M. Mikdar, C. Vrignaud, H. Megahed, J.-P., Cartron, C. Masson, S. Wehbi, B. Koehl, M. Hully, K. Siquier, N. Chemlay, A. Rotig, S. Lyonnet, Y. Colin, G. Barcia, V. Cantagrel, C. Le Van Kim, O. Hermine, T. Kinoshita, #, T. Peyrard# and S. Azouzi.# 2021. Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders. Blood, 137(26):3660-3669.

  4. Yang, J., T. Hirata, Y.-S. Liu, X.-Y. Guo, X.-D. Gao, T. Kinoshita and M. Fujita. 2021. hSND2 mediates ER targeting of GPI-anchored proteins with low hydrophobic GPI-attachment signals. FEBS Lett., 595:1542-1558.

  5. Liu, S.-S., Y.-S. Liu, X.-Y. Guo, Y. Murakami, G. Yang, X.-D. Gao, T. Kinoshita and M. Fujita. 2021. A knockout cell library of GPI biosynthetic genes for functional studies of GPI-anchored proteins. Commun. Biol., 4:777.

  6. Kawaguchi, K., M. Yamamoto-Hino, Y. Murakami, T. Kinoshita and S. Goto. 2021. Hrd1-dependent degradation of the unassembled PIGK subunit of the GPI transamidase complex. Cell Struct. Funct., 2021 Jun 30.

  7. Liu, S.-S., F. Jin, Y.-S. Liu, Y. Murakami, Y. Sugita, T. Kato, X.-D. Gao, T. Kinoshita, M. Hattori and M. Fujita. 2021. Functional and single particle analysis of the GPI transamidase complex. Molecules, 26(18):5462.

  8. Guerrero Muñoz, P. A.,* Y. Murakami,* A. Malik, P. H. Seeberger, T. Kinoshita and D. Varón Silva. 2021. Rescue of glycosylphosphatidylinositol-anchored protein biosynthesis using synthetic glycosylphosphatidylinositol oligosaccharides. ACS Chem. Biol., 16:2297-2306.

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