Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

J Klepper, C Akman, M Armeno, S Auvin… - Epilepsia …, 2020 - Wiley Online Library
Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired
glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is …

Glucose transporters at the blood-brain barrier: function, regulation and gateways for drug delivery

SG Patching - Molecular neurobiology, 2017 - Springer
Glucose transporters (GLUTs) at the blood-brain barrier maintain the continuous high
glucose and energy demands of the brain. They also act as therapeutic targets and provide …

Crystal structure of the human glucose transporter GLUT1

D Deng, C Xu, P Sun, J Wu, C Yan, M Hu, N Yan - Nature, 2014 - nature.com
The glucose transporter GLUT1 catalyses facilitative diffusion of glucose into erythrocytes
and is responsible for glucose supply to the brain and other organs. Dysfunctional mutations …

[HTML][HTML] Três gerações de políticas públicas para a agricultura familiar e formas de interação entre sociedade e estado no Brasil

C Grisa, S Schneider - Revista de economia e sociologia rural, 2014 - SciELO Brasil
Este artigo analisa a trajetória de construção de políticas públicas para a agricultura familiar
no Brasil, procurando enfatizar as" gerações" ou referenciais de políticas públicas …

Engaging neuroscience to advance translational research in brain barrier biology

EA Neuwelt, B Bauer, C Fahlke, G Fricker… - Nature Reviews …, 2011 - nature.com
The delivery of many potentially therapeutic and diagnostic compounds to specific areas of
the brain is restricted by brain barriers, of which the most well known are the blood–brain …

EFNS guidelines on diagnosis and treatment of primary dystonias

A Albanese, F Asmus, KP Bhatia… - European Journal of …, 2011 - Wiley Online Library
Objectives: To provide a revised version of earlier guidelines published in 2006.
Background: Primary dystonias are chronic and often disabling conditions with a …

Glucose transporters in brain: in health and in Alzheimer's disease

L Szablewski - Journal of Alzheimer's disease, 2017 - content.iospress.com
Neurons need a continuous supply of glucose, the major source of energy for mammalian
brain metabolism. The central nervous system is protected by three main physiological cell …

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

S Mercimek‐Mahmutoglu, J Patel, D Cordeiro… - …, 2015 - Wiley Online Library
Objective Epilepsy is a common neurologic disorder of childhood. To determine the genetic
diagnostic yield in epileptic encephalopathy, we performed a retrospective cohort study in a …

SLC transporters: structure, function, and drug discovery

C Colas, PMU Ung, A Schlessinger - Medchemcomm, 2016 - pubs.rsc.org
The human solute carrier (SLC) transporters are important targets for drug development.
Structure-based drug discovery for SLC transporters requires the description of their …

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

WG Leen, J Klepper, MM Verbeek, M Leferink, T Hofste… - Brain, 2010 - academic.oup.com
Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in
the majority of patients and results in impaired glucose transport into the brain. From 2004 …