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 …

Mitochondria are ubiquitous intracellular organelles found in almost all eukaryotes and
involved in various aspects of cellular life, with a primary role in energy production. The …

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 …

Complex I (NADH: ubiquinone oxidoreductase) is the largest multimeric enzyme complex of
the mitochondrial respiratory chain, which is responsible for electron transport and the …

Leigh syndrome is a rare, complex, and incurable early onset (typically infant or early
childhood) mitochondrial disorder with both phenotypic and genetic heterogeneity. The …

Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood,
accounting for up to 30% of cases. As with many mitochondrial disorders, complex I …

The mitochondrial oxidative phosphorylation (OXPHOS) system is the final biochemical
pathway in the production of ATP. The OXPHOS system consists of five multiprotein …

Introduction In the last 10 years the field of mitochondrial genetics has widened, shifting the
focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) …

Complex I has an essential role in ATP production by coupling electron transfer from NADH
to quinone with translocation of protons across the inner mitochondrial membrane. Isolated …