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DYSTONIA 18 (disorder)

Known as: Paroxysmal dystonia, exercise-induced, DYT18, GLUT1 DEFICIENCY SYNDROME 2 
National Institutes of Health

Related topics

Related topics

9 relations
Action TremorAutosomal dominant inheritanceBurr cellCerebral atrophy

Broader (1)

Dystonia Disorders

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Decrease in glucose transporter 1 levels and translocation of glucose transporter 3 in the dentate gyrus of C57BL/6 mice and gerbils with aging
In the present study, we compared the cell-specific expression and changes protein levels in the glucose transporters (GLUTs) 1… 
Highly Cited
2017
Highly Cited
2017
Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein
Haploinsufficiency of the SLC2A1 gene and paucity of its translated product, the glucose transporter-1 (Glut1) protein, disrupt… 
Review
2017
Review
2017
Kinetic Basis of Cis- and Trans-Allostery in GLUT1-Mediated Sugar Transport
A growing body of evidence demonstrates that GLUT1-mediated erythrocyte sugar transport is more complex than widely assumed and… 
2016
2016
Determination of GLUT1 Oligomerization Parameters using Bioluminescent Förster Resonance Energy Transfer
The facilitated glucose transporter GLUT1 (SLC2A1) is an important mediator of glucose homeostasis in humans. Though it is found… 
Review
2012
Review
2012
Overview of primary monogenic dystonia.
Review
2010
Review
2010
Genetics of Primary Torsion Dystonia
Advances in the genetics of dystonia have further elucidated the pathophysiology of this clinically and etiologically… 
2008
2008
Analysis of Glucose Transporter Topology and Structural Dynamics*
Homology modeling and scanning cysteine mutagenesis studies suggest that the human glucose transport protein GLUT1 and its… 
2007
2007
Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro.
2004
2004
Post-transcriptional regulation of glucose transporter-1 by an AU-rich element in the 3'UTR and by hnRNP A2.
Highly Cited
1992
Highly Cited
1992
Kinetic resolution of the separate GLUT1 and GLUT4 glucose transport activities in 3T3-L1 cells.
A bis-mannose-photolabel-displacement method has been developed for resolving the separate kinetic properties of the glucose… 
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