ReviewJournal of inherited metabolic disease2015
Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency.
Review in Journal of inherited metabolic disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed.
- Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.American journal of human genetics · 2026Article
- Knockdown of NDUFAF6 inhibits breast cancer progression via promoting mitophagy and apoptosis.Cancer biology & therapy · 2025Article
- Exploring the Phenotypic Heterogeneity and Bioenergetic Profile of the m.13513G>A mtDNA Substitution: A Heteroplasmy Perspective.International journal of molecular sciences · 2025Article
- Pulling back the mitochondria's iron curtain.npj metabolic health and disease · 2025Review
- Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- CISD3/MiNT is required for complex I function, mitochondrial integrity, and skeletal muscle maintenance.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Effects of myonectin on porcine intramuscular adipocyte differentiation and exogenous free fatty acid utilization.Animal biotechnology · 2023Article
- Major depressive disorder is correlated with the mitochondrialWorld journal of psychiatry · 2023Article
- Analysis of Human Clinical Mutations of Mitochondrial ND1 in a Bacterial Model System for Complex I.Life (Basel, Switzerland) · 2022Article
- Human clinical mutations in mitochondrially encoded subunits of Complex I can be successfully modeled in E. coli.Mitochondrion · 2022Article
- A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report.Molecular genetics & genomic medicine · 2022Article
- Assocation Between Leber's Hereditary Optic Neuropathy and MT-ND1 3460G>A Mutation-Induced Alterations in Mitochondrial Function, Apoptosis, and Mitophagy.Investigative ophthalmology & visual science · 2021Article
- Leber's Hereditary Optic Neuropathy Arising From the Synergy Between ND1 3635G>A Mutation and Mitochondrial YARS2 Mutations.Investigative ophthalmology & visual science · 2021Article
- Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions.International journal of molecular sciences · 2021Review
- Asymmetrical effects of deafness-associated mitochondrial DNA 7516delA mutation on the processing of RNAs in the H-strand and L-strand polycistronic transcripts.Nucleic acids research · 2020Article
- Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy.The Journal of biological chemistry · 2020Article
- Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNAThe Journal of biological chemistry · 2020Article
- Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNAThe Journal of biological chemistry · 2019Article
- Hypertension-associated mitochondrial DNA 4401A>G mutation caused the aberrant processing of tRNAMet, all 8 tRNAs and ND6 mRNA in the light-strand transcript.Nucleic acids research · 2019Article
- Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls.Orphanet journal of rare diseases · 2019Article
Corrections and comments
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Abstract
Mitochondrial diseases due to a reduced capacity for oxidative phosphorylation were first identified more than 20 years ago, and their incidence is now recognized to be quite significant. In a large proportion of cases the problem can be traced to a complex I (NADH-CoQ oxidoreductase) deficiency (Phenotype MIM #252010). Because the complex consists of 44 subunits, there are many potential targets for pathogenic mutations, both on the nuclear and mitochondrial genomes. Surprisingly, however, almost half of the complex I deficiencies are due to defects in as yet unidentified genes that encode proteins other than the structural proteins of the complex. This review attempts to summarize what we know about the molecular basis of complex I deficiencies: mutations in the known structural genes, and mutations in an increasing number of genes encoding "assembly factors", that is, proteins required for the biogenesis of a functional complex I that are not found in the final complex I. More such genes must be identified before definitive genetic counselling can be applied in all cases of affected families.
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