Publications

2019年

  1. Wang, Y., T. Hirata, Y. Maeda, Y. Murakami, M. Fujita and T. Kinoshita. 2019. Free, unlinked glycosylphosphatidylinositols on mammalian cell surfaces revisited. J. Biol. Chem., 294:5038-5049.

  2. Sou, Y-S, S. Kakuta, Y. Kamikubo, K. Niisato, T. Sakurai, L. K. Parajuli, I. Tanida, H. Saito, N. Suzuki, K. Sakimura, Y. Maeda, T. Kinoshita, Y. Uchiyama and M. Koike. 2019. Cerebellar neurodegeneration and neuronal circuit remodeling in Golgi pH regulator-deficient mice.eNeuro, 6(3): e0427-18.

  3. Murakami, Y.,* T. T. M. Nguyen*, N. Baratang, P. K. Raju, A. Knaus, S. Ellard, G. Jones, B. Lace, J. Rousseau, N. F. Ajeawung, A. Kamei, G. Minase, M. Akasaka, N. Araya, E. Koshimizu, J. van den Ende, F. Erger, J. Altmüller, Z. Krumina, J. Strautmanis, I. Inashkina, J. Stavusis, A. El-Gharbawy, J. Sebastian, R. Dua Puri, S. Kulshrestha, I. C. Verma, E. M. Maier, T. Haack, A. Israni, J. Baptista, A. Gunning, J. A. Rosenfeld, P. Liu, M. Joosten, M. E. Rocha, M. O. Hashem, H. M. Aldhalaan, F. S. Alkuraya, S. Miyatake, N. Matsumoto, P. Krawitz, E. Rossignol, T. Kinoshita and P. M. Campeau. 2019. Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases. Am. J. Hum. Genet., 105:384-394.

  4. Knaus, A., F. Kortüm, T. Kleefstra, A. Stray-Pedersen, D. Dukić, Y. Murakami, T. Gerstner, H. van Bokhoven, Z. Iqbal, D. Horn, T. Kinoshita, M. Hempel and P, M. Krawitz. 2019. Mutations in PIGU impair the function of the GPI transamidase complex causing severe intellectual disability, epilepsy and brain anomalies. Am. J. Hum. Genet., 105:395-402.

  5. Hoechsmann, B.*, Y. Murakami*, M. Osato*, A. Knaus, M. Kawamoto, N. Inoue, T. Hirata, S. Murata, M. Anliker, T. Eggermann, M. Jaeger, R. Floettmann, A. Hoellein, S. Murase, Y. Ueda, J. Nishimura, Y. Kanakura, N. Kohara, H. Schrezenmeier+, P. M. Krawitz+ and T. Kinoshita+. 2019. Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation. J. Clin. Invest., 129(12):5123-5136

PAGETOP