Presentation Information

[2P-946]Functional Impact of a Novel SGSH (N-Sulfoglucosamine Sulfohydrolase) Mutation from a Sanfilippo Syndrome Type A Patient

○Akane Yabuki1, Chika Ogura2, Kazuyoshi Itoh2, Shiho Ohno3, Noriyoshi Manabe3, Kiyohiko Angata2, Akira Togayachi1,2,4, Kiyoko Flora Aoki-Kinoshita2,5, Jun-Ichi Furukawa5, Kei-Ichiro Inamori6, Jin-Ichi Inokuchi7, Tadashi Kaname8, Yoshiki Yamaguchi3, Shoko Nishihara1,2 (1. Department of Biosciences, Graduate School of Science and Engineering, Soka Univ., 2. Glycan and Life Systems Integration Center (GaLSIC), Soka Univ., 3. Division of Structural Glycobiology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical Univ., 4. Department of Science and Engineering for Sustainable Innovation, Faculty of Science and Engineering, Soka Univ., 5. Institute for Glyco-Core Research (iGCORE), Nagoya Univ., 6. Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical Univ., 7. Forefront Research Center, Graduate School of Science, Osaka Univ., 8. Department of Genome Medicine, National Center for Child Health and Development)

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