Associated Papers
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
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
Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features.
Kim H et al.
Yonsei Medical Journal, 2019
Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.
Daci A et al.
International Journal of Molecular Sciences, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Clinical and genetic study of hereditary spastic paraplegia in Canada.
Chrestian N et al.
Neurology. Genetics, 2017
A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.
Diomedi M et al.
European Journal of Medical Genetics, 2016
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Hully M et al.
European Journal of Medical Genetics, 2015
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
Glut1 deficiency: inheritance pattern determined by haploinsufficiency.
Rotstein M et al.
Annals of Neurology, 2010
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
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
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
GLUT-1 deficiency without epilepsy--an exceptional case.
Overweg-Plandsoen WC et al.
Journal of Inherited Metabolic Disease, 2003
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
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