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 …

The human mitochondrial genome is extremely small compared with the nuclear genome,
and mitochondrial genetics presents unique clinical and experimental challenges. Despite …

Mitochondrial disorders are a group of clinically heterogeneous diseases, commonly
defined by a lack of cellular energy due to oxidative phosphorylation (OXPHOS) defects …

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

Mitochondria are ubiquitous organelles in eukaryotic cells whose primary function is to
generate energy supplies in the form of ATP through oxidative phosphorylation. As the entry …

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 …

Disruption of the most fundamental cellular energy process, the mitochondrial respiratory
chain, results in a diverse and variable group of multisystem disorders known collectively as …