Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the gluco...
Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein
About this item
Full title
Author / Creator
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. and Monani, Umrao R.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 and no optimal treatment for Glut1 DS. We used...
Alternative Titles
Full title
Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_cfe083483d664856ac5c4ced1381ccce
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_cfe083483d664856ac5c4ced1381ccce
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/ncomms14152
