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 assembly of the five oxidative phosphorylation system (OXPHOS) complexes in the
inner mitochondrial membrane is an intricate process. The human enzymes comprise core …

Mitochondria are increasingly recognized as key players in genetic and acquired renal
diseases. Most mitochondrial cytopathies that cause renal symptoms are characterized by …

The mitochondrial respiratory chain has the crucial function of supplying the cell with energy
in the form of ATP. Mutations affecting this chain can arise in mitochondrial or nuclear DNA …

Defects of mitochondrial metabolism cause a wide range of human diseases that include
examples from all medical subspecialties. This review updates the topic of mitochondrial …

Advances in next-generation sequencing (NGS) promise to facilitate diagnosis of inherited
disorders. Although in research settings NGS has pinpointed causal alleles using …

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

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) …