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 …

Life is the interplay between structure and energy, yet the role of energy deficiency in human
disease has been poorly explored by modern medicine. Since the mitochondria use …

Charcot described amyotrophic lateral sclerosis (ALS) in 1874. Despite progress, this
creeping paralysis, known colloquially as Lou Gehrig's disease, is still not visibly affected by …

Cytochrome c oxidase (CcO) is the terminal oxidase of the mitochondrial electron transport
chain. This bigenomic enzyme in mammals contains 13 subunits of which the 3 catalytic …

Amyotrophic lateral sclerosis (ALS) is a paralytic disorder caused by motor neuron
degeneration. Mutations in more than 50 human genes cause diverse types of motor neuron …

Cortical dysfunction—specifically, the development of hyperexcitability—seems to be an
early and intrinsic feature of sporadic and familial amyotrophic lateral sclerosis (ALS) …

Mitochondrial diseases (encephalomyopathies) have traditionally been ascribed to defects
of the respiratory chain, which has helped researchers explain their genetic and clinical …

Multiple sclerosis is a chronic inflammatory disease, which leads to focal plaques of
demyelination and tissue injury in the CNS. The structural and immunopathological patterns …

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease of motor neurons
(MNs) that causes skeletal muscle paralysis. Familial forms of ALS are linked to mutations in …

As with other mitochondrial respiratory chain components, marked clinical and genetic
heterogeneity is observed in patients with a cytochrome c oxidase deficiency. This …