ReviewNeurology2004
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.
Review in Neurology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
34 citing papers in PubMed, 86 citations in OpenAlex.
- A Comprehensive Review of Mitochondrial Complex I During Mammalian Oocyte Maturation.Genesis (New York, N.Y. : 2000) · 2025Review
- Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments.Biomedicines · 2025Review
- Mitochondrial complex-1 as a therapeutic target for cardiac diseases.Molecular and cellular biochemistry · 2025Review
- Human umbilical mesenchymal stem cells ameliorate atrophic gastritis in aging mice by participating in mitochondrial autophagy through Ndufs8 signaling.Stem cell research & therapy · 2024Article
- Revealing the potential role of hub metabolism-related genes and their correlation with immune cells in acute ischemic stroke.IET systems biology · 2024Article
- Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2.The Journal of clinical investigation · 2024Article
- Inherited myogenic abilities in muscle precursor cells defined by the mitochondrial complex I-encoding protein.Cell death & disease · 2023Article
- Molecular analysis of gene variants in an Iranian family with psychomotor retardation mitochondrial disorder patient.Clinical case reports · 2023Article
- Article
- Emerging Roles of NDUFS8 Located in Mitochondrial Complex I in Different Diseases.Molecules (Basel, Switzerland) · 2022Review
- Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder.JIMD reports · 2022Article
- Higher NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 8 (NDUFS8) Serum Levels Correlate with Better Insulin Sensitivity in Type 1 Diabetes.Current issues in molecular biology · 2022Article
- Blackout in the powerhouse: clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosome.The Biochemical journal · 2020Review
- Heroin Abuse Results in Shifted RNA Expression to Neurodegenerative Diseases and Attenuation of TNFα Signaling Pathway.Scientific reports · 2018Article
- Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.Neurogenetics · 2017Article
- Photoperiod Affects the Phenotype of Mitochondrial Complex I Mutants.Plant physiology · 2017Article
- The neuroimaging of Leigh syndrome: case series and review of the literature.Pediatric radiology · 2016Review
- Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome.Free radical biology & medicine · 2016Article
- Systems genetic analysis of hippocampal neuroanatomy and spatial learning in mice.Genes, brain, and behavior · 2015Article
- NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome.JIMD reports · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Analysis of the complex I NDUFS8 gene from Leigh syndrome patients with isolated complex I deficiency revealed that one patient with late-onset disease and partial complex I defect was a compound heterozygote for two novel mutations in NDUFS8 gene. Western blot analysis revealed a deficiency in the NDUFS8 polypeptide, but also reductions in other nuclear subunits of complex I, suggesting that this subunit is essential for either the assembly or stability of complex I.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.