Mutations in SCL2A10, encoding a glucose transporter, result in arterial tortuosity syndrome, indicating a link between glucose metabolism and angiopathic changes. Intriguingly, some of the phenotypic effects of SCL2A10 ablation may be mediated by upregulation of TGFβ signaling, suggesting new approaches for therapy of aortic aneurysm.
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Akhurst, R. A sweet link between TGFβ and vascular disease?. Nat Genet 38, 400–401 (2006). https://doi.org/10.1038/ng0406-400
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DOI: https://doi.org/10.1038/ng0406-400
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