Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants.

The Journal of biological chemistry - 13 Jun 2008

Pascual Juan M, Wang Dong, Yang Ru, Shi Lei, Yang Hong, De Vivo Darryl C

Abstract excerpt

Exon IV of SLC2A1, a multiple facilitator superfamily (MFS) transporter gene, is particularly susceptible to mutations that cause GLUT1 deficiency syndrome, a human encephalopathy that results from decreased glucose flux through the blood-brain barrier. Genotyping of 100 patients revealed that in a third of them who harbor missense mutations in the GLUT1 transporter, transmembrane domain 4 (TM4), encoded by...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Membrane
Share to Glucose
Share to Glucose Transporter Type 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hydrogen-Ion Concentration

Share to Oocytes

Share to Protein Folding

Share to Protein Transport

Share to Xenopus laevis

Source

Open in PubMed Open full text

Identifiers

PMID: 18387950
DOI: 10.1074/jbc.M801403200
PMCID: PMC2423257

Genes

SLC2A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants.PMID 18387950Read ↗

Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant.Semantic proximity Read ↗

Analysis of transmembrane segment 8 of the GLUT1 glucose transporter by cysteine-scanning mutagenesis and substituted cysteine accessibility.Semantic proximity Read ↗

Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro.Semantic proximity Read ↗

A subset of SLC2A1 missense variants interfere with GLUT1 trafficking in human brain endothelial cellsSemantic proximity Read ↗

Autosomal dominant Glut‐1 deficiency syndrome and familial epilepsySemantic proximity Read ↗

Novel variants in human Aquaporin-4 reduce cellular water permeability.Semantic proximity Read ↗

Crystal structure of the human glucose transporter GLUT1.Semantic proximity Read ↗

Characterization of a novel variant in KCNJ16, encoding Kir5.1 channel.Semantic proximity Read ↗

Transmembrane segment 3 of the Glut1 glucose transporter is an outer helix.Semantic proximity Read ↗

Opposing effects of molecular volume and charge at the hyperekplexia site alpha 1(P250) govern glycine receptor activation and desensitization.Semantic proximity Read ↗

Pathogenic mutations causing glucose transport defects in GLUT1 transporter: The role of intermolecular forces in protein structure-function.Semantic proximity Read ↗

Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.