Recent advances in understanding the role of mitochondrial dysfunction in
neurodegenerative diseases have expanded the opportunities for neurotherapeutics …

The mitochondrial genome encodes core subunits of the respiratory chain that drives
oxidative phosphorylation and is, therefore, essential for energy conversion. Advances in …

Mitochondrial diseases affect one in 2,000 individuals; they can present at any age and they
can manifest in any organ. How defects in mitochondria can cause such a diverse range of …

Across a variety of Mendelian disorders,∼ 50–75% of patients do not receive a genetic
diagnosis by exome sequencing indicating disease-causing variants in non-coding regions …

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 …

Objective The prevalence of mitochondrial disease has proven difficult to establish,
predominantly as a result of clinical and genetic heterogeneity. The phenotypic spectrum of …

Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups
of inherited diseases. The vast phenotypic overlap with other disease entities together with …

Once considered exclusively the cell's powerhouse, mitochondria are now recognized to
perform multiple essential functions beyond energy production, impacting most areas of cell …

Mitochondria are dynamic bioenergetic organelles whose maintenance requires around
1500 proteins from two genomes. Mutations in either the mitochondrial or nuclear genome …

Oxidative phosphorylation (OXPHOS) is the major pathway for ATP production in humans.
Deficiencies in OXPHOS can arise from mutations in either mitochondrial or nuclear …