GeneticsHuman Molecular GeneticsPeer-reviewed
SLC2A knockout mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects
Annekatrien Boel, Joyce E. Burger, Marine Vanhomwegen…·Bert Louis Callewaert
This study generates a novel mouse model of arterial tortuosity syndrome by knocking out Slc2a10 and Gulo, revealing mitochondrial respiration defects and compromised extracellular matrix formation.
12 citations