GeneticsJournal of the American Society of NephrologyPeer-reviewed
ADCK4 deficiency destabilizes the coenzyme Q complex, which is rescued by 2,4-dihydroxybenzoic acid treatment
Eugen Widmeier, Seyoung Yu, Anish Nag…·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.
60 citations