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

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 …

Mitochondria are increasingly recognized as key players in genetic and acquired renal
diseases. Most mitochondrial cytopathies that cause renal symptoms are characterized by …

Apoptosis is a process of programmed cell death that serves as a major mechanism for the
precise regulation of cell numbers, and as a defense mechanism to remove unwanted and …

Coenzyme Q (CoQ, or ubiquinone) is a remarkable lipid that plays an essential role in
mitochondria as an electron shuttle between complexes I and II of the respiratory chain, and …

Background Whole-exome sequencing (WES) has led to an exponential increase in
identification of causative variants in mitochondrial disorders (MD). Methods We performed …

The current standard of care for diagnosis of severe intellectual disability (ID) and epileptic
encephalopathy (EE) results in a diagnostic yield of∼ 50%. Affected individuals nonetheless …

Mitochondrial diseases involve the respiratory chain, which is under the dual control of
nuclear and mitochondrial DNA (mtDNA). The complexity of mitochondrial genetics provides …

Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has
furthered the understanding of the pathogenesis of this disease. Here, using a combination …

In addition to its role as a component of the mitochondrial respiratory chain and our only lipid-
soluble antioxidant synthesized endogenously, in recent years coenzyme Q (CoQ) has been …