Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene (Q30662440)

26 June 2017

title

Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene (English)

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26 June 2017

Klepper J

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26 June 2017

Monden I

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26 June 2017

Guertsen E

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26 June 2017

Voit T

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26 June 2017

Willemsen M

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26 June 2017

Keller K

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26 June 2017

language of work or name

English

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publication date

1 June 2001

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26 June 2017

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26 June 2017

volume

498

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26 June 2017

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26 June 2017

page(s)

104-109

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Sequence and structure of a human glucose transporter

26 June 2017

cites work

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Structure, function and biosynthesis of GLUTI

21 January 2018

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Blood-brain barrier, ion homeostatis and epilepsy: possible implications towards the understanding of ketogenic diet mechanisms

21 January 2018

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Interictal seizure resections show two configurations of endothelial Glut1 glucose transporter in the human blood-brain barrier.

21 January 2018

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Glut1 glucose transporter activity in human brain injury

21 January 2018

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Dynamic [18F]fluorodeoxyglucose positron emission tomography and hypometabolic zones in seizures: reduced capillary influx.

21 January 2018

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Defective Glucose Transport across the Blood-Brain Barrier as a Cause of Persistent Hypoglycorrhachia, Seizures, and Developmental Delay

21 January 2018

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Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome

21 January 2018

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

21 January 2018

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Autosomal dominant transmission of GLUT1 deficiency

21 January 2018

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Identification and characterization of the glucose transporter of the blood-brain barrier by cytochalasin B binding and immunological reactivity

21 January 2018

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Mammalian passive glucose transporters: members of an ubiquitous family of active and passive transport proteins

21 January 2018

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The glucose transporter family: structure, function and tissue-specific expression.

21 January 2018

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Glucose transporter gene expression: regulation of transcription and mRNA stability

21 January 2018

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Role of Conserved Arginine and Glutamate Residues on the Cytosolic Surface of Glucose Transporters for Transporter Function

21 January 2018

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The human glucose transporter can insert posttranslationally into microsomes

21 January 2018

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Functional messenger RNAs are produced by SP6in vitrotranscription of cloned cDNAs

21 January 2018

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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 transporter

21 January 2018

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Cysteine scanning mutagenesis of helices 2 and 7 in GLUT1 identifies an exofacial cleft in both transmembrane segments

21 January 2018

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Glucose transporters: structure, function and consequences of deficiency

21 January 2018

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The ketogenic diet revisited: back to the future

21 January 2018

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Cysteine-scanning mutagenesis of transmembrane segment 11 of the GLUT1 facilitative glucose transporter

21 January 2018

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A conserved amino acid motif (R-X-G-R-R) in the Glut1 glucose transporter is an important determinant of membrane topology

21 January 2018

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GLUT1-deficiency: barbiturates potentiate haploinsufficiency in vitro

21 January 2018

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Glucose transporter proteins in brain: Delivery of glucose to neurons and glia

21 January 2018

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High frequency of polymorphism but no mutations found in the GLUT1 glucose transporter gene in NIDDM and familial obesity by SSCP analysis

21 January 2018

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A role for the beta-subunit in the expression of functional Na+-K+-ATPase in Xenopus oocytes

21 January 2018

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10.1016/S0014-5793(01)02463-2

7 January 2021

Identifiers

DOI

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release_iy7ynilpcbcoppeiwpkvqx4ayi

26 June 2017

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mapped directly with Wikidata item

24 November 2022

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