Article

A subset of SLC2A1 missense variants interfere with GLUT1 trafficking in human brain endothelial cells

2026-07-29

Abstract excerpt

Glucose transporter type 1 (GLUT1), encoded by the SLC2A1 gene, mediates basal glucose uptake and is essential for brain energy homeostasis. Genetic variants in SLC2A1 cause GLUT1 Deficiency Syndrome (GLUT1 DS), a rare neurometabolic disorder characterized by impaired glucose transport across the blood–brain barrier and encompassing a wide and expanding phenotypic spectrum. Despite the fact that a high proportion...

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Literature Corpus work: 31998a94-e144-51e3-8738-cd60da2a3c76
DOI: 10.1186/s10020-026-01584-4

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