ArticleJournal of human genetics2018
A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.
Article in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 25 citations in OpenAlex.
- Mitochondrial complex I deficiency-associated diseases and models.Cellular and molecular life sciences : CMLS · 2026Review
- Deficient AMPK-SENP1-Sirt3 signaling impairs mitochondrial complex I function in Parkinson's disease model.Translational neurodegeneration · 2025Article
- Molecular Alterations in Core Subunits of Mitochondrial Complex I and Their Relation to Parkinson's Disease.Molecular neurobiology · 2025Review
- A Comprehensive Review of Mitochondrial Complex I During Mammalian Oocyte Maturation.Genesis (New York, N.Y. : 2000) · 2025Review
- Mitochondrial complex-1 as a therapeutic target for cardiac diseases.Molecular and cellular biochemistry · 2025Review
- Restoration of defective oxidative phosphorylation to a subset of neurons prevents mitochondrial encephalopathy.EMBO molecular medicine · 2024Article
- Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder.Journal of molecular medicine (Berlin, Germany) · 2024Article
- Article
- Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency.Journal of human genetics · 2023Article
- AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives.Orphanet journal of rare diseases · 2022Review
- NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate.Cell reports · 2021Article
- Biallelic Mutations inFrontiers in cell and developmental biology · 2021Article
- Leigh Syndrome: A Tale of Two Genomes.Frontiers in physiology · 2021Review
- Metformin delays neurological symptom onset in a mouse model of neuronal complex I deficiency.JCI insight · 2020Article
- Myopathy reversion in mice after restauration of mitochondrial complex I.EMBO molecular medicine · 2020Article
- Molecular basis of Leigh syndrome: a current look.Orphanet journal of rare diseases · 2020Review
- Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.Molecular genetics and metabolismArticle
- Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder.Journal of pediatric neurosciencesArticle
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Leigh syndrome is one of the most common subtypes of mitochondrial disease. Mutations in encoding genes of oxidative phosphorylation complexes have been frequently reported, of which, MTATP6 was one of the most frequently reported genes for Leigh syndrome. In this study, by using next-generation sequencing targeted to MitoExome in a patient with clinical manifestations of Leigh syndrome, two missense mutations of NDUFS3 (c.418 C > T/p.R140W and c.595 C > T/p.R199W) were identified, of which c.418 C > T was novel. Functionally, the patient derived lymphoblastoid cells showed decreased amount of NDUFS3 and complex I assembly when compared with two control cells. Although NDUFS3 mutations have been related to late onset Leigh syndrome, we found that the patient carrying these two mutations developed an early onset Leigh syndrome. To our knowledge, this is the second study on patient carrying NDUFS3 mutations. In conclusion, we identified a novel Leigh syndrome causing NDUFS3 mutation and expanded the clinical spectrum caused by NDUFS3 mutations in this study.
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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.