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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...

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Detalles Bibliográficos
Autores principales: Sokolov, Aidan M, Holmberg, Jennie C, Feliciano, David M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
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