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

• Main Authors: Pingting Liu (Author), Baichun Jiang (Author), Jian Ma (Author), Pengfei Lin (Author), Yinshuai Zhang (Author), Changshun Shao (Author), Wenjie Sun (Author), Yaoqin Gong (Author)
• Format: Book
• Published: The Company of Biologists, 2017-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 (B...