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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Company of Biologists Ltd
2017
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| Materias: | |
| 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 |