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

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...

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Bibliographic Details
Main Authors: Pingting Liu, Baichun Jiang, Jian Ma, Pengfei Lin, Yinshuai Zhang, Changshun Shao, Wenjie Sun, Yaoqin Gong
Format: Article
Language:English
Published: The Company of Biologists 2017-01-01
Series:Disease Models & Mechanisms
Subjects:
SLC33A1
Bone morphogenetic protein (BMP)
Knock-in mouse model
Neurodegeneration
Hereditary spastic paraplegia
Online Access:http://dmm.biologists.org/content/10/1/53

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