Mitochondria are essential organelles within the cell where most ATP is produced through
oxidative phosphorylation (OXPHOS). A subset of the genes needed for this process are …

Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This
neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations …

The purpose of this statement is to provide consensus-based recommendations for optimal
management and care for patients with primary mitochondrial disease. This statement is …

The discovery of vitamin E (α-tocopherol) began in 1922 as a vital component required in
reproduction. Today, there are eight naturally occurring vitamin E isoforms, namely α-, β-, γ …

Mitochondrial disease presenting in childhood is characterized by clinical, biochemical and
genetic complexity. Some children are affected by canonical syndromes, but the majority …

Mitochondria are complex organelles whose dysfunction underlies a broad spectrum of
human diseases. Identifying all of the proteins resident in this organelle and understanding …

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 …

Acetylation has recently emerged as an important mechanism for controlling a broad array of
proteins mediating cellular adaptation to metabolic fuels. Acetylation is governed, in part, by …

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