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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Detalles Bibliográficos
Autores principales: Liu, Pingting, Jiang, Baichun, Ma, Jian, Lin, Pengfei, Zhang, Yinshuai, Shao, Changshun, Sun, Wenjie, Gong, Yaoqin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278525/
https://www.ncbi.nlm.nih.gov/pubmed/27935820
http://dx.doi.org/10.1242/dmm.026880

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278525/
https://www.ncbi.nlm.nih.gov/pubmed/27935820
http://dx.doi.org/10.1242/dmm.026880

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