ArticleEuropean journal of human genetics : EJHG2018
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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.
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Who cites it
18 citing papers in PubMed, 27 citations in OpenAlex.
- Genetic Etiology in Children with Progressive Neuroregression.Indian journal of pediatrics · 2026Observational
- Single-cell RNA and DNA methylome profiling reveal liquid helium vitrification enhances porcine parthenogenetically activated blastocyst viability.BMC genomics · 2026Article
- Machine learning framework for mRNA alternative splicing analysis identifies a signature of progression in colorectal adenocarcinoma.Scientific reports · 2026Article
- Acute profound lactic alkalosis associated withMolecular genetics and metabolism reports · 2025Article
- Mitochondrial complex I deficiency in a 4-year-old boy due to compound heterozygous NDUFV1 mutation: a case report of a new pathogenic variant.Oxford medical case reports · 2025Article
- Clinico-Radiological and Genotypic Spectrum of Nuclear Mitochondriopathies.Indian journal of pediatrics · 2025Article
- Leigh Syndrome Caused by Compound Heterozygous Variants c.1162A_C and c.1138G_C in the NDUFV1 Gene: A Case Report.Cureus · 2024Article
- Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.Cell death & disease · 2024Article
- TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.Nature communications · 2024Article
- Exploring prognostic markers for patients with acute myeloid leukemia based on cuproptosis related genes.Translational cancer research · 2023Article
- NDUFV1 attenuates renal ischemia-reperfusion injury by improving mitochondrial homeostasis.Journal of cellular and molecular medicine · 2023Article
- Exploring mito-nuclear genetic factors in Leber's hereditary optic neuropathy: insights from comprehensive profiling of unique cases.EXCLI journal · 2023Article
- Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.Genes & genomics · 2022Article
- Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.Clinical genetics · 2021Article
- D-SCRIPT translates genome to phenome with sequence-based, structure-aware, genome-scale predictions of protein-protein interactions.Cell systems · 2021Article
- [A novel frameshift NDUFV1 mutation in a child with the phenotype of optic nerve atrophy].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2021Article
- NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.Genetics and molecular biology · 2021Article
- Genomics of rare genetic diseases-experiences from India.Human genomics · 2019Review
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
Medical genomics research performed in diverse population facilitates a better understanding of the genetic basis of developmental disorders, with regional implications for community genetics. Autosomal recessive mitochondrial complex I deficiency (MCID) accounts for a constellation of clinical features, including encephalopathies, myopathies, and Leigh Syndrome. Using whole-exome sequencing, we identified biallelic missense variants in NDUFV1 that encodes the 51-kD subunit of complex I (NADH dehydrogenase) NDUFV1. Mapping the variants on published crystal structures of mitochondrial complex I demonstrate that the novel c.1118T > C (p.(Phe373Ser)) variant is predicted to diminish the affinity of the active pocket of NDUFV1 for FMN that correlates to an early onset of debilitating MCID symptoms. The c.1156C > T (p.(Arg386Cys)) variant is predicted to alter electron shuttling required for energy production and correlate to a disease onset in childhood. NDUFV1 c.1156C > T (p.(Arg386Cys)) represents a founder variant in South Asian populations that have value in prioritizing this variant in a population-specific manner for genetic diagnostic evaluation. In conclusion, our results demonstrate the advantage of analyzing population-specific sequences to understand the disease pathophysiology and prevalence of inherited risk variants in the underrepresented populations.
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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.