Biochemical and functional characterization of the p.A165T missense variant of mitochondrial amidoxime-reducing component 1 in HepG2 cells
W. Hou, C. Watson, T. Cecconie, M. N. Bolaki, J. J. Brady, Q. Lu, G. J. Gatto, T. A. Day
This study characterizes the p.A165T missense variant of mARC1 in HepG2 cells, showing mislocalization, reduced stability, and impaired enzymatic function, which may explain its protective effect in liver disease.
bioRxiv · Oct 18, 2023 · PreprintCell Biology