Mitochondrial respiratory-chain diseases.

By S. Dimauro, E. Schon. New England Journal of Medicine, 2003

1,580 citations recorded by the source corpus.

Subfields: Clinical Biochemistry, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/f541787d1215bdc25c79628facb88756e2167fa2

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In Clinical Biochemistry

In Molecular Biology

Citations in the corpus

Pathophysiology of Migraine: A Disorder of Sensory Processing. (2017, background): “The recognition of migraine as a component of mitochondrial cytopathies (221) offers an avenue to explore how that biology may produce migraine.”
Mitochondrial dysfunction and molecular pathways of disease. (2007, background): “Current theory holds that mitochondria are the descendants of aerobic bacteria that colonized an ancient prokaryote between 1 and 3 billion years ago (Spees et al., 2006; DiMauro and Schon, 2003; Wallace, 2005).”
Reactive Oxygen Species in Inflammation and Tissue Injury (2014, positive): “The genetic mutations in mitochondrial respiratory chain can result in a variety of neurological disorders, including Leigh’s syndrome, leukodystrophy, paragangliomas, and pheochromocytomas (97).”
Autophagy proteins regulate innate immune response by inhibiting NALP3 inflammasome-mediated mitochondrial DNA release (2010, positive): “Impaired caspase-1 activation in ρ 0 macrophages Mitochondrial abnormalities have been linked to the pathogenesis of human diseases, such as type II diabetes, Parkinson's disease and Alzheimer's diseas”
AIF deficiency compromises oxidative phosphorylation (2004, background): “Thus, in patients, complex I deficiencies have been related to a variety of clinical signs, including neurodegeneration with ataxia and progressive retinal degeneration (Orth and Schapira, 2001; Triepels et al, 2001; DiMauro and Schon, 2003).”
Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations (2010, positive): “…encephalomyopathies, this characteristic blue histological pattern is often found in cases of respiratory dysfunction due to mtDNA defects (DiMauro and Schon, 2003; Taylor and Turnbull, 2005), because SDH activity is encoded solely by the nuclear genome, whereas COX activity is dependent…”
MITOCHONDRIAL DNA MUTATIONS IN HUMAN DISEASE (2005, neutral): “Excellent reviews describe the defects that are due to mutations in nuclear genes that are involved in mitochondrial oxidative metabolis”
Mitochondrial DNA and disease (2005, background): “This phenomenon is attributed to a ‘bottleneck’ between the ovum (where the giant deletion probably occurs) and the embryo, such that only a small minority of maternal mtDNA populates the fetus (2).”
Mitochondrial reactive oxygen species drive proinflammatory cytokine production (2011, background): “Perhaps not surprisingly, defective mi tochondria have also been implicated in human diseases with underlying in flammatory pathologies, such as diabe tes mellitus and cardiac dysfunction (DiMauro and Schon, 2003; Nisoli et al., 2007; Patti and Corvera, 2010).”