Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein

Haploinsufficiency of the SLC2A1 gene and paucity of its translated product, the glucose transporter-1 (Glut1) protein, disrupt brain function and cause the neurodevelopmental disorder, Glut1 deficiency syndrome (Glut1 DS). There is little to suggest how reduced Glut1 causes cognitive dysfunction an...

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Detalles Bibliográficos
Autores principales: Tang, Maoxue, Gao, Guangping, Rueda, Carlos B., Yu, Hang, Thibodeaux, David N., Awano, Tomoyuki, Engelstad, Kristin M., Sanchez-Quintero, Maria-Jose, Yang, Hong, Li, Fanghua, Li, Huapeng, Su, Qin, Shetler, Kara E., Jones, Lynne, Seo, Ryan, McConathy, Jonathan, Hillman, Elizabeth M., Noebels, Jeffrey L., De Vivo, Darryl C., Monani, Umrao R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5263887/
https://www.ncbi.nlm.nih.gov/pubmed/28106060
http://dx.doi.org/10.1038/ncomms14152

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