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

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

Glut1-deficiency syndrome is a severe neurodevelopmental disorder characterized by low brain glucose and epileptic seizures. Tanget al. show that in model mice, low Glut1 leads to defects of the brain vasculature, and that AAV9-based gene therapy at pre- or early-symptomatic stages prevents the defe...

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Autores principales: Maoxue Tang, Guangping Gao, Carlos B. Rueda, Hang Yu, David N. Thibodeaux, Tomoyuki Awano, Kristin M. Engelstad, Maria-Jose Sanchez-Quintero, Hong Yang, Fanghua Li, Huapeng Li, Qin Su, Kara E. Shetler, Lynne Jones, Ryan Seo, Jonathan McConathy, Elizabeth M. Hillman, Jeffrey L. Noebels, Darryl C. De Vivo, Umrao R. Monani
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
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Science
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Acceso en línea:https://doaj.org/article/cfe083483d664856ac5c4ced1381ccce
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Sumario:Glut1-deficiency syndrome is a severe neurodevelopmental disorder characterized by low brain glucose and epileptic seizures. Tanget al. show that in model mice, low Glut1 leads to defects of the brain vasculature, and that AAV9-based gene therapy at pre- or early-symptomatic stages prevents the defects and mitigates disease.

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