Coenzyme Q (CoQ, ubiquinone) is a redox-active lipid produced across all domains of life
that functions in electron transport and oxidative phosphorylation and whose deficiency …

Glomerular disorders are a major cause of end-stage renal disease and effective therapies
are often lacking. Nephrocytes are considered to be part of the Drosophila excretory system …

CLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually
associated with multisystem involvement, including neurologic manifestations such as fatal …

Podocytes play a key role in diabetic nephropathy pathogenesis, but alteration of their
metabolism remains unknown in human kidney. By using a conditionally differentiating …

Steroid-resistant nephrotic syndrome is characterized by podocyte dysfunction. Drosophila
garland cell nephrocytes are podocyte-like cells and thus provide a potential in vivo model …

Post-transcriptional tRNA modifications are numerous and require a large set of highly
conserved enzymes in humans and other organisms. In yeast, the loss of many …

Defects in nuclear-encoded proteins of the mitochondrial translation machinery cause early-
onset and tissue-specific deficiency of one or more OXPHOS complexes. Here, we report a 7 …

Primary ubiquinone (co‐enzyme Q) deficiency results in a wide range of clinical features
due to mitochondrial dysfunction. Here, we analyse and characterize two mutations in the …

Inherited and acquired mitochondrial defects have been associated with podocyte
dysfunction and chronic kidney disease (CKD). Peroxisome proliferator-activated receptor γ …

The phenotypic combination of steroid-resistant focal segmental glomerulosclerosis (SR-
FSGS) and sensorineural hearing loss has been mainly reported in patients with …