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S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model.

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第一作者： Pingting,Liu

第一单位： The Key Laboratory of Experimental Teratology, Ministry of Education and Department of Genetics, Shandong University School of Medicine, Jinan, Shandong 250012, China.

作者： Pingting,Liu ^[1] ; Baichun,Jiang ^[1] ; Jian,Ma ^[1] ; Pengfei,Lin ^[2] ; Yinshuai,Zhang ^[1] ; Changshun,Shao ^[1] ; Wenjie,Sun ^[3] ; Yaoqin,Gong ^[3]

作者单位： The Key Laboratory of Experimental Teratology, Ministry of Education and Department of Genetics, Shandong University School of Medicine, Jinan, Shandong 250012, China. ^[1] Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital, Shandong University, Jinan, Shandong 250012, China. ^[2] The Key Laboratory of Experimental Teratology, Ministry of Education and Department of Genetics, Shandong University School of Medicine, Jinan, Shandong 250012, China sunwenjie@sdu.edu.cn yxg8@sdu.edu.cn. ^[3]

关键词 Bone morphogenetic protein (BMP)Hereditary spastic paraplegia Knock-in mouse model Neurodegeneration SLC33A1