Associated Papers
Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.
Klepper J
Journal of Inherited Metabolic Disease, 2025
The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.
Mastrangelo M et al.
European Journal of Pediatrics, 2024
The cation-leaky hereditary stomatocytosis syndromes: A tale of six proteins.
Stewart GW et al.
British Journal of Haematology, 2023
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.
Tayebi N et al.
Annals of Clinical and Translational Neurology, 2023
Mechanistic Insights into Protein Stability and Self-aggregation in GLUT1 Genetic Variants Causing GLUT1-Deficiency Syndrome.
Raja M et al.
The Journal of Membrane Biology, 2020
Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.
Enogieru OJ et al.
Human Mutation, 2019
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Long-term clinical course of Glut1 deficiency syndrome.
Alter AS et al.
Journal of Child Neurology, 2015
Implications of aberrant temperature-sensitive glucose transport via the glucose transporter deficiency mutant (GLUT1DS) T295M for the alternate-access and fixed-site transport models.
Cunningham P et al.
The Journal of Membrane Biology, 2013
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG et al.
Brain : a Journal of Neurology, 2010
Trivalent arsenicals and glucose use different translocation pathways in mammalian GLUT1.
Jiang X et al.
Metallomics : Integrated Biometal Science, 2010
Acute hyperglycemia produces transient improvement in glucose transporter type 1 deficiency.
Akman CI et al.
Annals of Neurology, 2010
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Suls A et al.
Brain : a Journal of Neurology, 2008
GLUT1 deficiency syndrome--2007 update.
Klepper J et al.
Developmental Medicine and Child Neurology, 2007
Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro.
Wong HY et al.
Molecular Genetics and Metabolism, 2007
Docking studies show that D-glucose and quercetin slide through the transporter GLUT1.
Cunningham P et al.
The Journal of Biological Chemistry, 2006
Predicting the three-dimensional structure of the human facilitative glucose transporter glut1 by a novel evolutionary homology strategy: insights on the molecular mechanism of substrate migration, and binding sites for glucose and inhibitory molecules.
Salas-Burgos A et al.
Biophysical Journal, 2004
Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomer.
Iserovich P et al.
The Journal of Biological Chemistry, 2002
Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-- a review.
Klepper J et al.
European Journal of Pediatrics, 2002
Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro.
Ho YY et al.
Pediatric Research, 2001
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.
Wang D et al.
Human Mutation, 2000
GLUT1-deficiency: barbiturates potentiate haploinsufficiency in vitro.
Klepper J et al.
Pediatric Research, 1999
Pathogenic mutations causing glucose transport defects in GLUT1 transporter: The role of intermolecular forces in protein structure-function.
Raja M et al.
Biophysical Chemistry, 0