- S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model.
S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model.
Disease models & mechanisms (2016-12-10)
Pingting Liu, Baichun Jiang, Jian Ma, Pengfei Lin, Yinshuai Zhang, Changshun Shao, Wenjie Sun, Yaoqin Gong
PMID27935820
摘要
The S113R mutation (c.339T>G) (MIM #603690.0001) in SLC33A1 (MIM #603690), an ER membrane acetyl-CoA transporter, has been previously identified in individuals with hereditary spastic paraplegia type 42 (SPG42; MIM #612539). SLC33A1 has also been shown to inhibit the bone morphogenetic protein (BMP) signaling pathway in zebrafish. To better understand the function of SLC33A1, we generated and characterized Slc33a1
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