Mitochondrial disorders are among the most frequent inborn errors of metabolism, their
primary cause being the dysfunction of the oxidative phosphorylation system (OXPHOS) …

Glomerular disease, be it primary or secondary, occurring in the setting of systemic
autoimmune diseases, infections, drugs, or malignancy, affects individuals of all ages. In …

Coenzyme Q (CoQ) is a key component of the respiratory chain of all eukaryotic cells. Its
function is closely related to mitochondrial respiration, where it acts as an electron …

Abstract Primary Coenzyme Q (CoQ) deficiencies are clinically heterogeneous conditions
and lack clear genotype-phenotype correlations, complicating diagnosis and prognostic …

Primary mitochondrial diseases represent some of the most common and severe inherited
metabolic disorders, affecting~ 1 in 4,300 live births. The clinical and molecular diversity …

Steroid-resistant nephrotic syndrome (SRNS) remains a challenge for paediatric
nephrologists. SRNS is viewed as a heterogeneous disease entity including immune-based …

Mutations affecting mitochondrial coenzyme Q (CoQ) biosynthesis lead to kidney failure due
to selective loss of podocytes, essential cells of the kidney filter. Curiously, neighboring …

Abstract Coenzyme Q10/COQ10, an essential cofactor in the electron‐transport chain is
involved in ATP production. Primary COQ10 deficiency is clinically and genetically a …

The mitochondria of the proximal tubule are essential for providing energy in this nephron
segment, whose ATP generation is almost exclusively oxygen dependent. In addition …

Steroid-resistant nephrotic syndrome (SRNS) is a genetically heterogeneous kidney disease
that is the second most frequent cause of kidney failure in the first 2 decades of life. Despite …