- 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
ZUSAMMENFASSUNG
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
MATERIALIEN
Produktnummer
Marke
Produktbeschreibung