GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier.

PubWeight™: 1.49‹?› | Rank: Top 4%

🔗 View Article (PMID 9462754)

Published in Nat Genet on February 01, 1998

Authors

G Seidner1, M G Alvarez, J I Yeh, K R O'Driscoll, J Klepper, T S Stump, D Wang, N B Spinner, M J Birnbaum, D C De Vivo

Author Affiliations

1: Howard Hughes Medical Institute and the Cox Institute, Philadelphia, Pennsylvania, USA.

Articles citing this

The SLC2 family of facilitated hexose and polyol transporters. Pflugers Arch (2003) 2.58

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. Am J Hum Genet (2008) 2.21

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest (2008) 1.60

SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion. Diabetologia (2012) 1.54

Genetic testing in epilepsy: what should you be doing? Epilepsy Curr (2011) 1.39

Glucose transporters: structure, function and consequences of deficiency. J Inherit Metab Dis (2000) 1.27

A review of nanoparticle functionality and toxicity on the central nervous system. J R Soc Interface (2010) 1.21

Ketone bodies as a therapeutic for Alzheimer's disease. Neurotherapeutics (2008) 1.08

Neuronal glucose transporter isoform 3 deficient mice demonstrate features of autism spectrum disorders. Mol Psychiatry (2009) 1.07

Implications of glucose transporter protein type 1 (GLUT1)-haplodeficiency in embryonic stem cells for their survival in response to hypoxic stress. Am J Pathol (2003) 1.07

GLUT1 reductions exacerbate Alzheimer's disease vasculo-neuronal dysfunction and degeneration. Nat Neurosci (2015) 1.07

Role of monosaccharide transport proteins in carbohydrate assimilation, distribution, metabolism, and homeostasis. Compr Physiol (2012) 1.01

Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants. J Biol Chem (2008) 1.01

Expression of glucose transporter 1 confers susceptibility to human T-cell leukemia virus envelope-mediated fusion. J Virol (2005) 0.98

Epileptic encephalopathies: new genes and new pathways. Neurotherapeutics (2014) 0.93

Neurovascular development and links to disease. Cell Mol Life Sci (2013) 0.92

A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome. Mol Cell (2015) 0.89

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency. BMC Pediatr (2014) 0.88

Hypoxic-ischemic brain injury exacerbates neuronal apoptosis and precipitates spontaneous seizures in glucose transporter isoform 3 heterozygous null mice. J Neurosci Res (2010) 0.88

Ascorbic acid, cognitive function, and Alzheimer's disease: a current review and future direction. Biofactors (2012) 0.86

GLUT-1 deficiency without epilepsy--an exceptional case. J Inherit Metab Dis (2003) 0.85

Regional distribution of SGLT activity in rat brain in vivo. Am J Physiol Cell Physiol (2012) 0.83

Normal glucose uptake in the brain and heart requires an endothelial cell-specific HIF-1α-dependent function. Proc Natl Acad Sci U S A (2012) 0.83

Introduction of a ketogenic diet in young infants. J Inherit Metab Dis (2002) 0.83

Inherited epithelial transporter disorders--an overview. J Inherit Metab Dis (2008) 0.81

Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein. Nat Commun (2017) 0.80

Vascularisation of the central nervous system. Mech Dev (2015) 0.80

SLC Transporters: Structure, Function, and Drug Discovery. Medchemcomm (2016) 0.79

What's new in metabolic and genetic hypoglycaemias: diagnosis and management. Eur J Pediatr (2007) 0.78

Shuttling glucose across brain microvessels, with a little help from GLUT1 and AMP kinase. Focus on "AMP kinase regulation of sugar transport in brain capillary endothelial cells during acute metabolic stress". Am J Physiol Cell Physiol (2012) 0.78

Epilepsy and inborn errors of metabolism in children. J Inherit Metab Dis (2009) 0.78

Molecular Dynamics Simulations of the Human Glucose Transporter GLUT1. PLoS One (2015) 0.77

Glucose Transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, Facts, and the Lives of Persons With This Rare Disease. Pediatr Neurol (2015) 0.76

Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis. J Inherit Metab Dis (2000) 0.76

Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature. J Neurol (2014) 0.76

Paroxysmal eye-head movements in Glut1 deficiency syndrome. Neurology (2017) 0.75

Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. Hum Genet (2016) 0.75

CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome. JIMD Rep (2015) 0.75

"Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances. Ital J Pediatr (2011) 0.75

Blood-brain barrier transport machineries and targeted therapy of brain diseases. Bioimpacts (2016) 0.75

Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome. Neuroimage Clin (2016) 0.75

Genetic biomarkers in epilepsy. Neurotherapeutics (2014) 0.75

A Cause of Permanent Ketosis: GLUT-1 Deficiency. JIMD Rep (2014) 0.75

Adolescents with clinical type 1 diabetes display reduced red blood cell glucose transporter isoform 1 (GLUT1). Pediatr Diabetes (2014) 0.75

Role of glucose metabolism related gene GLUT1 in the occurrence and prognosis of colorectal cancer. Oncotarget (2017) 0.75

Altered cargo proteins of human plasma endothelial cell-derived exosomes in atherosclerotic cerebrovascular disease. FASEB J (2017) 0.75

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients. Mol Diagn Ther (2017) 0.75

Articles by these authors

Regulation of neuronal survival by the serine-threonine protein kinase Akt. Science (1997) 11.48

Insulin resistance and a diabetes mellitus-like syndrome in mice lacking the protein kinase Akt2 (PKB beta). Science (2001) 11.22

An EBV membrane protein expressed in immortalized lymphocytes transforms established rodent cells. Cell (1985) 10.13

Akt1/PKBalpha is required for normal growth but dispensable for maintenance of glucose homeostasis in mice. J Biol Chem (2001) 7.10

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet (1997) 6.66

The genome of the sea urchin Strongylocentrotus purpuratus. Science (2006) 6.41

Expression of a constitutively active Akt Ser/Thr kinase in 3T3-L1 adipocytes stimulates glucose uptake and glucose transporter 4 translocation. J Biol Chem (1996) 6.35

ZnO nanowire UV photodetectors with high internal gain. Nano Lett (2007) 6.06

Stat5a and Stat5b proteins have essential and nonessential, or redundant, roles in cytokine responses. Cell (1998) 5.92

Jak2 is essential for signaling through a variety of cytokine receptors. Cell (1998) 5.92

Epstein-Barr virus nuclear antigen 2 specifically induces expression of the B-cell activation antigen CD23. Proc Natl Acad Sci U S A (1987) 5.68

Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet (1997) 5.58

A role for AMP-activated protein kinase in contraction- and hypoxia-regulated glucose transport in skeletal muscle. Mol Cell (2001) 5.57

High-speed mapping of synaptic connectivity using photostimulation in Channelrhodopsin-2 transgenic mice. Proc Natl Acad Sci U S A (2007) 5.42

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol (1984) 5.21

Cell-autonomous regulation of cell and organ growth in Drosophila by Akt/PKB. Nat Cell Biol (1999) 5.00

Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays. Nat Genet (1999) 4.79

KILLER/DR5 is a DNA damage-inducible p53-regulated death receptor gene. Nat Genet (1997) 4.46

Noncovalent sidewall functionalization of single-walled carbon nanotubes for protein immobilization. J Am Chem Soc (2001) 4.46

Cloning and characterization of a cDNA encoding the rat brain glucose-transporter protein. Proc Natl Acad Sci U S A (1986) 4.40

Infectivity, transmission, and pathology of human-isolated H7N9 influenza virus in ferrets and pigs. Science (2013) 4.17

Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology (2006) 4.11

Regulation of pancreatic beta-cell growth and survival by the serine/threonine protein kinase Akt1/PKBalpha. Nat Med (2001) 4.07

Autophagy delays apoptotic death in breast cancer cells following DNA damage. Cell Death Differ (2006) 3.95

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet (1992) 3.74

Orientation and patching of the latent infection membrane protein encoded by Epstein-Barr virus. J Virol (1986) 3.65

Stat5 is required for IL-2-induced cell cycle progression of peripheral T cells. Immunity (1999) 3.53

SOCS1 deficiency causes a lymphocyte-dependent perinatal lethality. Cell (1999) 3.15

The role of FoxO in the regulation of metabolism. Oncogene (2008) 3.09

Early diabetes and abnormal postnatal pancreatic islet development in mice lacking Glut-2. Nat Genet (1997) 2.97

Construction and characterization of a conditionally active version of the serine/threonine kinase Akt. J Biol Chem (1998) 2.93

Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology (1999) 2.91

A novel nociceptor signaling pathway revealed in protein kinase C epsilon mutant mice. Neuron (1999) 2.82

In vitro studies of piperacilin, a new semisynthetic penicillin. Antimicrob Agents Chemother (1978) 2.82

Safety and efficacy of galantamine in subjects with mild cognitive impairment. Neurology (2008) 2.79

Adventitial myofibroblasts contribute to neointimal formation in injured porcine coronary arteries. Circulation (1996) 2.77

The translational inhibitor 4E-BP is an effector of PI(3)K/Akt signalling and cell growth in Drosophila. Nat Cell Biol (2001) 2.73

Ecology. Giant pandas in a changing landscape. Science (2001) 2.73

Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family. J Biol Chem (2000) 2.70

Protein-sulfenic acids: diverse roles for an unlikely player in enzyme catalysis and redox regulation. Biochemistry (1999) 2.60

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet (1999) 2.59

Stat5 is essential for the myelo- and lymphoproliferative disease induced by TEL/JAK2. Mol Cell (2000) 2.41

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Hum Mutat (2006) 2.39

Self-rated health and survival: a 7-year follow-up study of Australian elderly. Am J Public Health (1994) 2.37

Regulation of insulin-stimulated glucose transporter GLUT4 translocation and Akt kinase activity by ceramide. Mol Cell Biol (1998) 2.28

The role of brain-derived neurotrophic factor receptors in the mature hippocampus: modulation of long-term potentiation through a presynaptic mechanism involving TrkB. J Neurosci (2000) 2.28

Role of the alpha2-integrin in osteoblast-specific gene expression and activation of the Osf2 transcription factor. J Biol Chem (1998) 2.26

Novel injectable neutral solutions of chitosan form biodegradable gels in situ. Biomaterials (2000) 2.24

SOCS3 is essential in the regulation of fetal liver erythropoiesis. Cell (1999) 2.19

Supersensitivity to allosteric GABA(A) receptor modulators and alcohol in mice lacking PKCepsilon. Nat Neurosci (1999) 2.17

Quantum-state controlled chemical reactions of ultracold potassium-rubidium molecules. Science (2010) 2.15

Risperidone augmentation of SRI treatment for refractory obsessive-compulsive disorder. J Clin Psychiatry (1996) 2.14

Cyclic AMP promotes neuronal survival by phosphorylation of glycogen synthase kinase 3beta. Mol Cell Biol (2000) 2.11

Unique forms of human and mouse nuclear receptor corepressor SMRT. Proc Natl Acad Sci U S A (1999) 2.10

Integrin alpha8beta1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis. Cell (1997) 2.09

Human neutrophil activation and increased adhesion by various resuscitation fluids. Crit Care Med (2000) 2.09

A high-dose preparation of lactobacilli and bifidobacteria in the prevention of antibiotic-associated and Clostridium difficile diarrhoea in older people admitted to hospital: a multicentre, randomised, double-blind, placebo-controlled, parallel arm trial (PLACIDE). Health Technol Assess (2013) 2.09

Canine and feline parvoviruses can use human or feline transferrin receptors to bind, enter, and infect cells. J Virol (2001) 2.08

Six mouse alpha-tubulin mRNAs encode five distinct isotypes: testis-specific expression of two sister genes. Mol Cell Biol (1986) 2.07

Umbilical cord mesenchymal stem cell transplantation in drug-induced Stevens-Johnson syndrome. J Eur Acad Dermatol Venereol (2012) 2.03

Suppression of glioblastoma angiogenicity and tumorigenicity by inhibition of endogenous expression of vascular endothelial growth factor. Proc Natl Acad Sci U S A (1996) 2.02

A prospective study of surgeon-performed ultrasound as the primary adjuvant modality for injured patient assessment. J Trauma (1995) 2.01

Prevalence of antibodies to the hepatitis E virus in pigs from countries where hepatitis E is common or is rare in the human population. J Med Virol (1999) 2.01

Attributable causes of cancer in China. Ann Oncol (2012) 1.98

The mammalian beta-tubulin repertoire: hematopoietic expression of a novel, heterologous beta-tubulin isotype. J Cell Biol (1986) 1.97

Enhancement of neutrophil superoxide production by preincubation with recombinant human tumor necrosis factor. J Immunol (1987) 1.97

Pretranslational suppression of an insulin-responsive glucose transporter in rats with diabetes mellitus. Science (1989) 1.97

A role for protein kinase Bbeta/Akt2 in insulin-stimulated GLUT4 translocation in adipocytes. Mol Cell Biol (1999) 1.95

Insulin increases the association of Akt-2 with Glut4-containing vesicles. J Biol Chem (1998) 1.95

GreA-induced transcript cleavage in transcription complexes containing Escherichia coli RNA polymerase is controlled by multiple factors, including nascent transcript location and structure. J Biol Chem (1994) 1.92

Induction of reversible complexes between eukaryotic DNA topoisomerase I and DNA-containing oxidative base damages. 7, 8-dihydro-8-oxoguanine and 5-hydroxycytosine. J Biol Chem (1999) 1.91

Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Neurology (2004) 1.87

The changing natural history of spinal muscular atrophy type 1. Neurology (2007) 1.87

Increased NAD(P)H oxidase and reactive oxygen species in coronary arteries after balloon injury. Arterioscler Thromb Vasc Biol (2001) 1.86

Erythropoietin induces activation of Stat5 through association with specific tyrosines on the receptor that are not required for a mitogenic response. Mol Cell Biol (1996) 1.86

Exercise induces isoform-specific increase in 5'AMP-activated protein kinase activity in human skeletal muscle. Biochem Biophys Res Commun (2000) 1.85

The regulation of AMP-activated protein kinase by H(2)O(2). Biochem Biophys Res Commun (2001) 1.84

Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology (2004) 1.83

Glucose deprivation and hexose transporter polypeptides of murine fibroblasts. J Biol Chem (1986) 1.81

Bovine chymotrypsinogen A X-ray crystal structure analysis and refinement of a new crystal form at 1.8 A resolution. J Mol Biol (1985) 1.81

Serum prostate-specific antigen and prostate volume predict long-term changes in symptoms and flow rate: results of a four-year, randomized trial comparing finasteride versus placebo. PLESS Study Group. Urology (1999) 1.81

Hypothalamic-midbrain dysregulation syndrome: hypertension, hyperthermia, hyperventilation, and decerebration. J Child Neurol (1991) 1.80

Experience with the ketogenic diet in infants. Pediatrics (2001) 1.80

Utilization of distinct signaling pathways by receptors for vascular endothelial cell growth factor and other mitogens in the induction of endothelial cell proliferation. J Biol Chem (2000) 1.79

Systematic review of the impact of beta blockers on mortality and hospital admissions in heart failure. Eur J Heart Fail (2001) 1.78

Quantitative analysis of transcriptional pausing by Escherichia coli RNA polymerase: his leader pause site as paradigm. Methods Enzymol (1996) 1.78

Identification and characterization of a novel extracellular matrix protein nephronectin that is associated with integrin alpha8beta1 in the embryonic kidney. J Cell Biol (2001) 1.77

Pretranslational suppression of a glucose transporter protein causes insulin resistance in adipocytes from patients with non-insulin-dependent diabetes mellitus and obesity. J Clin Invest (1991) 1.76

C/EBP alpha:AP-1 leucine zipper heterodimers bind novel DNA elements, activate the PU.1 promoter and direct monocyte lineage commitment more potently than C/EBP alpha homodimers or AP-1. Oncogene (2007) 1.75

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology (2001) 1.75

Cerebellar ataxia and coenzyme Q10 deficiency. Neurology (2003) 1.73

Skeletor, a novel chromosomal protein that redistributes during mitosis provides evidence for the formation of a spindle matrix. J Cell Biol (2000) 1.71

Transformation of rat fibroblasts by FSV rapidly increases glucose transporter gene transcription. Science (1987) 1.70

The Smad4 activation domain (SAD) is a proline-rich, p300-dependent transcriptional activation domain. J Biol Chem (2000) 1.70

Rho-A is critical for osteoclast podosome organization, motility, and bone resorption. J Biol Chem (2000) 1.69

Inhibition of Akt kinase by cell-permeable ceramide and its implications for ceramide-induced apoptosis. J Biol Chem (1998) 1.68

Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. Nat Genet (1997) 1.68

A genomic view of the sea urchin nervous system. Dev Biol (2006) 1.68

Akt/protein kinase B isoforms are differentially regulated by epidermal growth factor stimulation. J Biol Chem (2000) 1.68