ArticleThe Journal of clinical investigation1999
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts.
Article in The Journal of clinical investigation, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 40 citations in OpenAlex.
- Brain Transcriptome Changes Associated With an Acute Increase of Protein O-GlcNAcylation and Implications for Neurodegenerative Disease.Journal of neurochemistry · 2025Article
- Androgen receptor signaling-mitochondrial DNA-oxidative phosphorylation: A critical triangle in early prostate cancer.Current urology · 2022Article
- Leber's hereditary optic neuropathy: Update on current diagnosis and treatment.Frontiers in ophthalmology · 2022Review
- Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing.NPJ genomic medicine · 2020Article
- Metabolic flexibility of mitochondrial respiratory chain disorders predicted by computer modelling.Mitochondrion · 2016Article
- Mitochondrial Dynamics and Heart Failure.Comprehensive Physiology · 2015Review
- Viability and stress protection of chronic lymphoid leukemia cells involves overactivation of mitochondrial phosphoSTAT3Ser727.Cell death & disease · 2014Article
- Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.PLoS genetics · 2013Article
- Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.Genome biology · 2012Article
- Mice lacking TR4 nuclear receptor develop mitochondrial myopathy with deficiency in complex I.Molecular endocrinology (Baltimore, Md.) · 2011Article
- Nitrogen anabolism underlies the importance of glutaminolysis in proliferating cells.Cell cycle (Georgetown, Tex.) · 2010Article
- Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.The Biochemical journal · 2007Article
- Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin.The Biochemical journal · 2004Article
- NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.The Journal of clinical investigation · 2004Article
- Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.Neurology · 2004Review
- Large functional range of steady-state levels of nuclear and mitochondrial transcripts coding for the subunits of the human mitochondrial OXPHOS system.Genome research · 2002Article
- Human NADH:ubiquinone oxidoreductase.Journal of bioenergetics and biomembranes · 2001Article
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have studied complex I (NADH-ubiquinone reductase) defects of the mitochondrial respiratory chain in 2 infants who died in the neonatal period from 2 different neurological forms of severe neonatal lactic acidosis. Specific and marked decrease in complex I activity was documented in muscle, liver, and cultured skin fibroblasts. Biochemical characterization and study of the genetic origin of this defect were performed using cultured fibroblasts. Immunodetection of 6 nuclear DNA-encoded (20, 23, 24, 30, 49, and 51 kDa) and 1 mitochondrial DNA-encoded (ND1) complex I subunits in fibroblast mitochondria revealed 2 distinct patterns. In 1 patient, complex I contained reduced amounts of the 24- and 51-kDa subunits and normal amounts of all the other investigated subunits. In the second patient, amounts of all the investigated subunits were severely decreased. The data suggest partial or extensive impairment of complex I assembly in both patients. Cell fusion experiments between 143B206 rho degrees cells, fully depleted of mitochondrial DNA, and fibroblasts from both patients led to phenotypic complementation of the complex I defects in mitochondria of the resulting cybrid cells. These results indicate that the complex I defects in the 2 reported cases are due to nuclear gene mutations.
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