ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment.
Eugen WidmeierSeyoung YuAnish NagYoun Wook ChungMakiko NakayamaLucía Fernández-Del-RíoHannah HugoDavid SchapiroFlorian BuergerWon-Il ChoiMartin HelmstädterJae-Woo KimJi-Hwan RyuMin Goo LeeCatherine F ClarkeFriedhelm HildebrandtHeon Yung GeePublished in: Journal of the American Society of Nephrology : JASN (2020)
Our study shows that ADCK4 is required for CoQ10 biosynthesis and mitochondrial function in podocytes, and suggests that ADCK4 in podocytes stabilizes proteins in complex Q in podocytes. Our study also suggests a potential treatment strategy for nephrotic syndrome resulting from ADCK4 mutations.