ArticleJournal of bioenergetics and biomembranes2001
Human NADH:ubiquinone oxidoreductase.
Article in Journal of bioenergetics and biomembranes, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 118 citations in OpenAlex.
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- Elevated susceptibility to exogenous seizure triggers and impaired interneuron excitability in a mouse model of Leigh syndrome epilepsy.Neurobiology of disease · 2023Article
- ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.Brain : a journal of neurology · 2022Article
- C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.The Journal of clinical investigation · 2021Article
- Systematic integrated analyses of methylomic and transcriptomic impacts of early combined botanicals on estrogen receptor-negative mammary cancer.Scientific reports · 2021Article
- Clinical, biochemical, and genetic analysis of the mitochondrial respiratory chain complex I deficiency.Medicine · 2018Article
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- Age modifies respiratory complex I and protein homeostasis in a muscle type-specific manner.Aging cell · 2016Article
- A simple method for the addition of rotenone in Arabidopsis thaliana leaves.Plant signaling & behavior · 2015Article
- MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy.PloS one · 2014Article
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- Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.European journal of human genetics : EJHG · 2011Article
- Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.European journal of human genetics : EJHG · 2011Article
- Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.European journal of human genetics : EJHG · 2011Article
- NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.European journal of human genetics : EJHG · 2011Article
- Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.Neurogenetics · 2011Article
- NOA1 is an essential GTPase required for mitochondrial protein synthesis.Molecular biology of the cell · 2011Article
- Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies.Journal of inherited metabolic disease · 2010Article
- High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.Nature genetics · 2010Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
nadhubiquinone oxidoreductase consists of at least 43 proteins; seven are encoded by the mitochondrial genome, while the remainder are encoded by the nuclear genome. A deficient activity of this enzyme complex is frequently observed in the clinical heterogeneous group of mitochondrial disorders, with Leigh (-like) disease as the main contributor. Enzyme complex activity measurement in skeletal muscle is the mainstay of the diagnostic process. Fibroblast studies are a prerequisite whenever prenatal enzyme diagnosis is considered. Mitochondrial DNA mutations are found in approximately 5-10% of all complex I deficiencies. Recently, all structural nuclear complex I genes have been determined at the cDNA level and several at the gDNA level. A comprehensive mutational analysis study of all complex I nuclear genes in a group of 20 patients exhibiting this deficiency revealed mutations in about 40%. Here, we describe the enzymic methods we use and the recent progress made in genomics and cell biology of human complex I.
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