Article

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

2019-07-23

Abstract excerpt

ADCK4 mutations usually manifest as steroid-resistant nephrotic syndrome, and cause coenzyme Q 10 (CoQ 10 ) deficiency. However, the function of ADCK4 remains obscure. We investigated ADCK4 function using mouse and cell models. Podocyte-specific Adck4 deletion in mice significantly reduced survival and caused severe focal segmental glomerular sclerosis with extensive interstitial fibrosis and tubular atrophy, w...

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Literature Corpus work: ca86151f-94e9-53c5-a65a-d85807f8170a
DOI: 10.1101/712323

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