Functional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency

scientific article published on 16 September 2003

Functional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1074/JBC.M308765200
P698PubMed publication ID13129919
P5875ResearchGate publication ID10411877

P2093author name stringHong Yang
Li Ma
Dong Wang
Darryl C De Vivo
Jorge Fischbarg
Pavel Iserovich
Felipe A Zuniga
Juan M Pascual
Kunyan Kuang
Ruo Peng Sun
Kavita M Swaroop
P2860cites workHuman vitamin C (L-ascorbic acid) transporter SVCT1Q22011047
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrierQ24309065
QLS motif in transmembrane helix VII of the glucose transporter family interacts with the C-1 position of D-glucose and is involved in substrate selection at the exofacial binding siteQ24312077
A simple method for displaying the hydropathic character of a proteinQ26778481
Structural analysis of the GLUT1 facilitative glucose transporter (review).Q27863708
The extended GLUT-family of sugar/polyol transport facilitators: nomenclature, sequence characteristics, and potential function of its novel members (review)Q28214888
Defective Glucose Transport across the Blood-Brain Barrier as a Cause of Persistent Hypoglycorrhachia, Seizures, and Developmental DelayQ28277163
Glucose transporters serve as water channelsQ28282002
Molecular biology of mammalian glucose transportersQ28299428
Sequence and structure of a human glucose transporterQ28305569
Structural requirements for binding to the sugar-transport system of the human erythrocyteQ28363901
Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transportersQ28379253
Proposed structure of putative glucose channel in GLUT1 facilitative glucose transporterQ30424848
Defective glucose transport across brain tissue barriers: a newly recognized neurological syndromeQ33607763
Distribution of ascorbic acid, metabolites and analogues in man and animalsQ33924219
The biochemical functions of ascorbic acidQ34048620
Evidence from oocyte expression that the erythrocyte water channel is distinct from band 3 and the glucose transporterQ34208370
Expression of multiple water channel activities in Xenopus oocytes injected with mRNA from rat kidneyQ36411278
Functional expression of mammalian glucose transporters in Xenopus laevis oocytes: evidence for cell-dependent insulin sensitivityQ36761688
Blood-brain barrier glucose transporter is asymmetrically distributed on brain capillary endothelial lumenal and ablumenal membranes: an electron microscopic immunogold studyQ37541590
The red blood cell glucose transporter presents multiple, nucleotide-sensitive sugar exit sitesQ38293835
Glucose transporter gene expression: regulation of transcription and mRNA stabilityQ40379731
The glucose transporter of human erythrocytes--working hypothesis for its functional mechanismQ41755665
A three-dimensional model of the human facilitative glucose transporter Glut1.Q43746990
Autosomal dominant glut-1 deficiency syndrome and familial epilepsyQ43768384
Analysis of transmembrane segment 10 of the Glut1 glucose transporter by cysteine-scanning mutagenesis and substituted cysteine accessibilityQ43802409
The large cytoplasmic loop of the glucose transporter GLUT1 is an essential structural element for functionQ43840163
Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomerQ44007442
Effects of high pressure on glucose transport in the human erythrocyteQ44083250
Deficient transport of dehydroascorbic acid in the glucose transporter protein syndromeQ47671600
Cysteine-scanning mutagenesis of flanking regions at the boundary between external loop I or IV and transmembrane segment II or VII in the GLUT1 glucose transporterQ47732681
The human brain GLUT1 glucose transporter: ultrastructural localization to the blood-brain barrier endotheliaQ48198741
Mammalian facilitative glucose transporters: evidence for similar substrate recognition sites in functionally monomeric proteinsQ48418596
Ultrastructural localization of blood-brain barrier-specific antibodies using immunogold-silver enhancement techniquesQ48761971
Cysteine-scanning mutagenesis of transmembrane segment 11 of the GLUT1 facilitative glucose transporterQ48886331
Cysteine scanning mutagenesis of helices 2 and 7 in GLUT1 identifies an exofacial cleft in both transmembrane segmentsQ48896979
Transmembrane segment 5 of the Glut1 glucose transporter is an amphipathic helix that forms part of the sugar permeation pathwayQ48921155
Role of the C-terminal tail of the GLUT1 glucose transporter in its expression and function in Xenopus laevis oocytesQ49056825
Mammalian facilitative hexose transporters mediate the transport of dehydroascorbic acidQ49140908
Expression of a functional glucose transporter in Xenopus oocytesQ58450361
Progesterone inhibits membrane-bound adenylate cyclase in Xenopus laevis oocytesQ59058107
Cholate-solubilized erythrocyte glucose transporters exist as a mixture of homodimers and homotetramersQ70150096
P433issue49
P407language of work or nameEnglishQ1860
P304page(s)49015-49021
P577publication date2003-09-16
P1433published inJournal of Biological ChemistryQ867727
P1476titleFunctional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency
P478volume278

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cites work (P2860)
Q33885216Akt2 modulates glucose availability and downstream apoptotic pathways during development
Q41939001Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M.
Q28117570Glucose transporter 1 deficiency in the idiopathic generalized epilepsies
Q34367598Glut1 deficiency: Inheritance pattern determined by haploinsufficiency
Q48623638Implications of aberrant temperature-sensitive glucose transport via the glucose transporter deficiency mutant (GLUT1DS) T295M for the alternate-access and fixed-site transport models
Q89561796Mechanistic Insights into Protein Stability and Self-aggregation in GLUT1 Genetic Variants Causing GLUT1-Deficiency Syndrome
Q24648494Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Q36711153Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants
Q27339639Vibrational Imaging of Glucose Uptake Activity in Live Cells and Tissues by Stimulated Raman Scattering

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