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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Nature Publishing Group
2017-01-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/ncomms14152 |
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doaj-cfe083483d664856ac5c4ced1381ccce2021-05-11T07:08:28ZengNature Publishing GroupNature Communications2041-17232017-01-018111510.1038/ncomms14152Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 proteinMaoxue Tang0Guangping Gao1Carlos B. Rueda2Hang Yu3David N. Thibodeaux4Tomoyuki Awano5Kristin M. Engelstad6Maria-Jose Sanchez-Quintero7Hong Yang8Fanghua Li9Huapeng Li10Qin Su11Kara E. Shetler12Lynne Jones13Ryan Seo14Jonathan McConathy15Elizabeth M. Hillman16Jeffrey L. Noebels17Darryl C. De Vivo18Umrao R. Monani19Department of Pathology & Cell Biology, Columbia University Medical CenterDepartment of Microbiology and Physiological Systems, University of Massachusetts Medical SchoolCenter for Motor Neuron Biology and Disease, Columbia University Medical CenterDepartments of Biomedical Engineering and Radiology, Laboratory for Functional Optical Imaging, Mortimer B. Zuckerman Mind Brain Behavior Institute and Kavli Institute for Brain Science, Columbia UniversityDepartments of Biomedical Engineering and Radiology, Laboratory for Functional Optical Imaging, Mortimer B. Zuckerman Mind Brain Behavior Institute and Kavli Institute for Brain Science, Columbia UniversityDepartment of Pathology & Cell Biology, Columbia University Medical CenterColleen Giblin Laboratory, Columbia University Medical CenterDepartment of Neurology, Columbia University Medical CenterColleen Giblin Laboratory, Columbia University Medical CenterColleen Giblin Laboratory, Columbia University Medical CenterDepartment of Microbiology and Physiological Systems, University of Massachusetts Medical SchoolDepartment of Microbiology and Physiological Systems, University of Massachusetts Medical SchoolColleen Giblin Laboratory, Columbia University Medical CenterDepartment of Radiology, Washington University School of MedicineDepartment of Neurology, Baylor College of MedicineDivision of Molecular Imaging and Therapeutics, University of AlabamaDepartments of Biomedical Engineering and Radiology, Laboratory for Functional Optical Imaging, Mortimer B. Zuckerman Mind Brain Behavior Institute and Kavli Institute for Brain Science, Columbia UniversityDepartment of Neurology, Baylor College of MedicineCenter for Motor Neuron Biology and Disease, Columbia University Medical CenterDepartment of Pathology & Cell Biology, Columbia University Medical CenterGlut1-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.https://doi.org/10.1038/ncomms14152 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| 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 |
| spellingShingle |
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 Nature Communications |
| 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 Publishing Group |
| series |
Nature Communications |
| issn |
2041-1723 |
| publishDate |
2017-01-01 |
| 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. |
| url |
https://doi.org/10.1038/ncomms14152 |
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