Nature Communications (Jan 2017)
Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein
- 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
Affiliations
- Maoxue Tang
- Department of Pathology & Cell Biology, Columbia University Medical Center
- Guangping Gao
- Department of Microbiology and Physiological Systems, University of Massachusetts Medical School
- Carlos B. Rueda
- Center for Motor Neuron Biology and Disease, Columbia University Medical Center
- Hang Yu
- Departments of Biomedical Engineering and Radiology, Laboratory for Functional Optical Imaging, Mortimer B. Zuckerman Mind Brain Behavior Institute and Kavli Institute for Brain Science, Columbia University
- David N. Thibodeaux
- Departments of Biomedical Engineering and Radiology, Laboratory for Functional Optical Imaging, Mortimer B. Zuckerman Mind Brain Behavior Institute and Kavli Institute for Brain Science, Columbia University
- Tomoyuki Awano
- Department of Pathology & Cell Biology, Columbia University Medical Center
- Kristin M. Engelstad
- Colleen Giblin Laboratory, Columbia University Medical Center
- Maria-Jose Sanchez-Quintero
- Department of Neurology, Columbia University Medical Center
- Hong Yang
- Colleen Giblin Laboratory, Columbia University Medical Center
- Fanghua Li
- Colleen Giblin Laboratory, Columbia University Medical Center
- Huapeng Li
- Department of Microbiology and Physiological Systems, University of Massachusetts Medical School
- Qin Su
- Department of Microbiology and Physiological Systems, University of Massachusetts Medical School
- Kara E. Shetler
- Colleen Giblin Laboratory, Columbia University Medical Center
- Lynne Jones
- Department of Radiology, Washington University School of Medicine
- Ryan Seo
- Department of Neurology, Baylor College of Medicine
- Jonathan McConathy
- Division of Molecular Imaging and Therapeutics, University of Alabama
- Elizabeth M. Hillman
- Departments of Biomedical Engineering and Radiology, Laboratory for Functional Optical Imaging, Mortimer B. Zuckerman Mind Brain Behavior Institute and Kavli Institute for Brain Science, Columbia University
- Jeffrey L. Noebels
- Department of Neurology, Baylor College of Medicine
- Darryl C. De Vivo
- Center for Motor Neuron Biology and Disease, Columbia University Medical Center
- Umrao R. Monani
- Department of Pathology & Cell Biology, Columbia University Medical Center
- DOI
- https://doi.org/10.1038/ncomms14152
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 15
Abstract
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.
