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Functional Evaluation of Novel Variants of B4GALNT1 in a Patient with Hereditary Spastic Paraplegia and the General Population

Kei-ichiro Inamori,Katsuya Nakamura,Fumi Shishido, Jia-Chen Hsu,Masakazu Nagafuku,Takahiro Nitta,Junji Ikeda,Hidekane Yoshimura,Minori Kodaira,Naomi Tsuchida,Naomichi Matsumoto,Satoshi Uemura,Shiho Ohno,Noriyoshi Manabe,Yoshiki Yamaguchi,Akira Togayachi,Kiyoko F. Aoki-Kinoshita,Shoko Nishihara,Jun-ichi Furukawa,Tadashi Kaname,Masahiko Nakamura,Takayoshi Shimohata,Shu Tadaka,Matsuyuki Shirota,Kengo Kinoshita,Yutaka Nakamura,Isao Ohno,Yoshiki Sekijima,Jin-ichi Inokuchi

FRONTIERS IN NEUROSCIENCE（2024）

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Key words
hereditary spastic paraplegia,gangliosides,B4GALNT1,GM2/GD2 synthase,glycosyltransferase,missense variant
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