ADCK4 deficiency destabilizes the coenzyme Q complex, which is rescued by 2, 4-dihydroxybenzoic acid treatment

E Widmeier, S Yu, A Nag, YW Chung… - Journal of the …, 2020 - journals.lww.com
Background Mutations in ADCK4 (aarF domain containing kinase 4) generally manifest as
steroid-resistant nephrotic syndrome and induce coenzyme Q 10 (CoQ 10) deficiency.
However, the molecular mechanisms underlying steroid-resistant nephrotic syndrome
resulting from ADCK4 mutations are not well understood, largely because the function of
ADCK4 remains unknown. Methods To elucidate the ADCK4's function in podocytes, we
generated a podocyte-specific, Adck4-knockout mouse model and a human podocyte cell …