Mitochondrial disorders are among the most frequent inborn errors of metabolism, their
primary cause being the dysfunction of the oxidative phosphorylation system (OXPHOS) …

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

Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and
was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A …

Monogenic Mitochondrial Disorders | New England Journal of Medicine Skip to main content The
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Mitochondrial glycerol-3-phosphate dehydrogenase (mGPDH) is not included in the
traditional textbook schemes of the respiratory chain, reflecting the fact that it is a non …

Copper (Cu) is an essential micronutrient required for the activity of redox‐active enzymes
involved in critical metabolic reactions, signaling pathways, and biological functions …

Mitochondrially generated reactive oxygen species are involved in a myriad of signaling and
damaging pathways in different tissues. In addition, mitochondria are an important target of …

Introduction• Protein aggregation‐'Toxic oligomer'hypothesis‐Protein (mis) folding‐
Proteostasis and molecular chaperones‐Protein misfolding and endoplasmic reticulum …

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

Fast-spiking, inhibitory interneurons–prototype is the parvalbumin-positive (PV+) basket cell–
generate action potentials at high frequency and synchronize the activity of numerous …