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
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/cfe083483d664856ac5c4ced1381ccce
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spelling	oai:doaj.org-article:cfe083483d664856ac5c4ced1381ccce2021-12-02T15:38:50ZBrain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein10.1038/ncomms141522041-1723https://doaj.org/article/cfe083483d664856ac5c4ced1381ccce2017-01-01T00:00:00Zhttps://doi.org/10.1038/ncomms14152https://doaj.org/toc/2041-1723Glut1-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.Maoxue TangGuangping GaoCarlos B. RuedaHang YuDavid N. ThibodeauxTomoyuki AwanoKristin M. EngelstadMaria-Jose Sanchez-QuinteroHong YangFanghua LiHuapeng LiQin SuKara E. ShetlerLynne JonesRyan SeoJonathan McConathyElizabeth M. HillmanJeffrey L. NoebelsDarryl C. De VivoUmrao R. MonaniNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein
description	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.
format	article
author	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
author_facet	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
author_sort	Maoxue Tang
title	Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein
title_short	Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein
title_full	Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein
title_fullStr	Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein
title_full_unstemmed	Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein
title_sort	brain microvasculature defects and glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/cfe083483d664856ac5c4ced1381ccce
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Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein

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