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

• 主要な著者: Pingting Liu (著者), Baichun Jiang (著者), Jian Ma (著者), Pengfei Lin (著者), Yinshuai Zhang (著者), Changshun Shao (著者), Wenjie Sun (著者), Yaoqin Gong (著者)
• フォーマット: 図書
• 出版事項: The Company of Biologists, 2017-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...