Article

Pathogenic missense variants in SLC2A1 (GLUT1) misroute to lysosomes in endothelial cells: insights into molecular pathology of GLUT1 deficiency

2026-04-16

Abstract excerpt

<title>Abstract</title> <p> Background Glucose transporter type 1 (GLUT1), encoded by the <italic>SLC2A1</italic> gene, mediates basal glucose uptake and is essential for brain energy homeostasis. Genetic variants in <italic>SLC2A1</italic> cause GLUT1 deficiency syndrome (GLUT1 DS), a rare neurometabolic disorder characterized by impaired glucose transport across the blood-brain barrier and encompassing a...

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Literature Corpus work: 7eebb674-3222-5a31-ab9f-548f75f953ba
DOI: 10.21203/rs.3.rs-9246829/v1

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