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The amino acid transporter Slc7a5 regulates the mTOR pathway and is required for granule cell development
Pathogenic mutations in the solute carrier family 7 member 5 (SLC7A5) gene, which encodes an amino acid transporter cause microcephaly and seizures, yet the mechanisms responsible for these phenotypes are unclear. Models have demonstrated that Slc7a5 deletion is embryonic lethal and that these embry...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7645712/ https://www.ncbi.nlm.nih.gov/pubmed/32821949 http://dx.doi.org/10.1093/hmg/ddaa186 |