ADCK4 deficiency destabilizes the coenzyme Q complex, which is rescued by 2,4-dihydroxybenzoic acid treatment
Eugen Widmeier, Seyoung Yu, Anish Nag, Youn Wook Chung, Makiko Nakayama, Lucía Fernández-del-Río, Hannah Hugo, David Schapiro, Florian Buerger, Won‐Il Choi, Martin Helmstädter, Jae Woo Kim, Ji-Hwan Ryu, Min Goo Lee, Catherine Freitag Clarke, , Heon Yung Gee
This study shows ADCK4 deficiency causes CoQ10 deficiency and mitochondrial dysfunction in podocytes, which is rescued by 2,4-dihydroxybenzoic acid treatment.
Journal of the American Society of Nephrology · May 7, 2020Peer-reviewedGenetics