Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations
in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level …

Peroxisome proliferator-activated receptor γ coactivator 1α (PGC-1α) is a key transcriptional
regulator of mitochondrial biogenesis and function. Several recent studies have evaluated …

Results In 74 of 300 families (25%), we identified a causative mutation in one of 20 genes
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …

The kidneys are highly metabolic organs that produce vast quantities of adenosine
triphosphate via oxidative phosphorylation and, as such, contain many mitochondria …

Abstract Primary coenzyme Q10 (CoQ10; MIM# 607426) deficiencies are an emerging
group of inherited mitochondrial disorders with heterogonous clinical phenotypes. Over a …

Background Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of CKD. The
discovery of monogenic causes of SRNS has revealed specific pathogenetic pathways, but …

Over the past two decades it has become increasing clear that injury and loss of podocytes
is an early and common clinical observation presented in many forms of glomerulopathy and …

Nephrotic syndrome (NS), a frequent chronic kidney disease in children and young adults, is
the most common phenotype associated with primary coenzyme Q 10 (CoQ 10) deficiency …

Background Nephrotic syndrome can be caused by a subgroup of mitochondrial diseases
classified as primary coenzyme Q 10 (CoQ 10) deficiency. Pathogenic COQ2 variants are a …

Heart failure is a frequent unfavorable outcome of pathological cardiac hypertrophy. Recent
increase in dietary fructose consumption mirrors the rise in prevalence of cardiovascular …