Associated Papers
Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?
Boel A et al.
Antioxidants & Redox Signaling, 2021
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
Sauvigny T et al.
Journal of Neurology, 2020
32367296 (PubMed )
Supplement: 415_2020_9865_MOESM1_ESM.docx
Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.
Boel A et al.
Human Molecular Genetics, 2020
Glucose transporter 10 modulates adipogenesis via an ascorbic acid-mediated pathway to protect mice against diet-induced metabolic dysregulation.
Jiang CL et al.
Plos Genetics, 2020
GLUT10 maintains the integrity of major arteries through regulation of redox homeostasis and mitochondrial function.
Syu YW et al.
Human Molecular Genetics, 2018
Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.
Lee YC et al.
Human Molecular Genetics, 2010
Mutations in the SLC2A10 gene cause arterial abnormalities in mice.
Cheng CH et al.
Cardiovascular Research, 2009
Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions.
Callewaert BL et al.
Genesis (new York, N.y. : 2000), 2008
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