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 …

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

Although there has been considerable debate about whether paternal mitochondrial DNA
(mtDNA) transmission may coexist with maternal transmission of mtDNA, it is generally …

Certain subtypes of cancer cells require oxidative phosphorylation (OXPHOS) to survive.
Increased OXPHOS dependency is frequently a hallmark of cancer stem cells and cells …

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

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 …

Mutations in mitochondrial DNA (mtDNA) are maternally inherited and can cause fatal or
debilitating mitochondrial disorders. The severity of clinical symptoms is often associated …

Mitochondrial dysfunction is central to the pathogenesis of neurological disorders. Neurons
rely on oxidative phosphorylation to meet their energy requirements and thus alterations in …

Tumor cells carry various genetic and metabolic alterations, which directly contribute to their
growth and malignancy. Links between metabolism and cancer are multifaceted. Metabolic …

Oxidative phosphorylation defects in human tissues are often challenging to quantify due to
a mosaic pattern of deficiency. Biochemical assays are difficult to interpret due to the varying …