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
Structural Organization of the Retriever-CCC Endosomal Recycling Complex.
Boesch DJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F et al.
Neurology, 2023
Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.
Sutherland HG et al.
Cells, 2020
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
A new mouse model of GLUT1 deficiency syndrome exhibits abnormal sleep-wake patterns and alterations of glucose kinetics in the brain.
Furuse T et al.
Disease Models & Mechanisms, 2019
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
Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature.
Mohammad SS et al.
Journal of Paediatrics and Child Health, 2014
Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature.
Wolking S et al.
Journal of Neurology, 2014
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
Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants.
Pascual JM et al.
The Journal of Biological Chemistry, 2008
GLUT1 deficiency syndrome--2007 update.
Klepper J et al.
Developmental Medicine and Child Neurology, 2007
Docking studies show that D-glucose and quercetin slide through the transporter GLUT1.
Cunningham P et al.
The Journal of Biological Chemistry, 2006
Bench meets bedside: a 10-year-old girl and amino acid residue glycine 75 of the facilitative glucose transporter GLUT1.
Klepper J et al.
Biochemistry, 2005
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
Functional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency.
Wang D et al.
The Journal of Biological Chemistry, 2003
Functional consequences of an in vivo mutation in exon 10 of the human GLUT1 gene.
Lange P et al.
Febs Letters, 2003
Imaging the metabolic footprint of Glut1 deficiency on the brain.
Pascual JM et al.
Annals of Neurology, 2002
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
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
Brockmann K et al.
Annals of Neurology, 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
Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome.
Klepper J et al.
Neurochemical Research, 1999
Rapid DNA analysis of alpha 1-antitrypsin deficiency: application of an improved method for amplifying mutated gene sequences.
Dermer SJ et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 1988
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