The Molecular Biology Society of Japan

[2P-0513] Identification of a novel GBA mutation in Parkinson's disease and biochemical characterization of patient-derived lymphoblastoid cells

〇Yasuyo Suzuki1, Ayaka Chikada 2, Kimiko Katoh1, Kenichiro Yamada1, Daisuke Fukushi1, Hiroyuki Ishiura2, Kazushi Deguchi3, Jun Mitsui4, Shoji Tuji4, Nobuaki Wakamatsu5 (1.Dept of Genet, Inst for Develop Res, Aichi Human Serv Ctr, 2.Dept of Neurol, Univ of Tokyo, 3.Dept of Gastroenterol and Neurol, Faculty of Med, Kagawa Univ, 4.Dept of Mol Neurol, Univ of Tokyo, 5.Dept of Neurol, Neurol and Stroke Ctr, Takamatsu Municipal Hosp)

Parkinson's disease, β-glucocerebrosidase, lysosome , Gaucher's disease

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