ArticleHuman molecular genetics2016
Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- A systematic review on the biochemical threshold of mitochondrial genetic variants.Genome research · 2024Pooled it
- [Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2026Review
- Article
- Pathogenic role of mitochondrial DNA mutations in heart failure: clinical features, mechanisms, and therapeutic prospects.Frontiers in cardiovascular medicine · 2026Review
- [Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2025Article
- TIGD6 in gastric cancer: exploring its prognostic value and therapeutic potential through molecular and clinical investigations.European journal of medical research · 2025Article
- Mitochondrial tRNAJournal of clinical laboratory analysis · 2025Article
- Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.Cell reports. Medicine · 2024Article
- Heteroplasmy and Individual Mitogene Pools: Characteristics and Potential Roles in Ecological Studies.Biology · 2023Review
- Association of mitochondrial DNA variation with high myopia in a Han Chinese population.Molecular genetics and genomics : MGG · 2023Article
- Mitochondrial Diabetes is Associated with tRNADiabetes, metabolic syndrome and obesity : targets and therapy · 2022Article
- The Role of Mitochondrial Dysfunction in Vascular Disease, Tumorigenesis, and Diabetes.Frontiers in molecular biosciences · 2021Review
- Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy.The Journal of biological chemistry · 2020Article
- PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy.The Journal of clinical investigation · 2020Article
- Article
- Creation of Cybrid Cultures Containing mtDNA Mutations m.12315G>A and m.1555G>A, Associated with Atherosclerosis.Biomolecules · 2019Article
- A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis.Nucleic acids research · 2019Article
- Leber's Hereditary Optic Neuropathy-Specific Heteroplasmic Mutation m.14495A>G Found in a Chinese Family.Translational vision science & technology · 2019Article
- Next-generation sequencing profiling of mitochondrial genomes in gout.Arthritis research & therapy · 2018Article
- Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel.Biomedical reports · 2018Article
Corrections and comments
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Authors and funding
13 authors at 7 institutions in 2 countries.
Funding
Abstract
Leber's hereditary optic neuropathy (LHON) is the most common mitochondrial disease. Mitochondrial modifiers are proposed to modify the phenotypic expression of primary LHON-associated mitochondrial DNA (mtDNA) mutations. In this study, we demonstrated that the LHON susceptibility allele (m.14502T > C, p. 58I > V) in the ND6 gene modulated the phenotypic expression of primary LHON-associated m.11778G > A mutation. Twenty-two Han Chinese pedigrees carrying m.14502T > C and m.11778G > A mutations exhibited significantly higher penetrance of optic neuropathy than those carrying only m.11778G > A mutation. We performed functional assays using the cybrid cell models, generated by fusing mtDNA-less ρ
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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.