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

Mitochondria are double‐membrane‐bound organelles that are present in all nucleated
eukaryotic cells and are responsible for the production of cellular energy in the form of ATP …

The assembly of the five oxidative phosphorylation system (OXPHOS) complexes in the
inner mitochondrial membrane is an intricate process. The human enzymes comprise core …

Respiratory chain dysfunction plays an important role in human disease and aging. It is now
well established that the individual respiratory complexes can be organized into …

Copper (Cu) is an essential micronutrient required for the activity of redox‐active enzymes
involved in critical metabolic reactions, signaling pathways, and biological functions …

The assembly of mitochondrial oxidative phosphorylation (OXPHOS) complexes is an
intricate process, which—given their dual-genetic control—requires tight co-regulation of two …

Mitochondrial diseases are among the most common and most complex of all inherited
genetic diseases. The involvement of both the mitochondrial and nuclear genome presents …

Over the past 10 years, mitochondrial defects have been implicated in a wide variety of
degenerative diseases, aging, and cancer. Studies on patients with these diseases have …

Heme-copper oxidases (HCOs) are terminal enzymes on the mitochondrial or bacterial
respiratory electron transport chain, which utilize a unique heterobinuclear active site to …

Mitochondrial disease is a challenging area of genetics because two distinct genomes can
contribute to disease pathogenesis. It is also challenging clinically because of the myriad of …