ArticleGenetics2007
Mutations in cytochrome c oxidase subunit VIa cause neurodegeneration and motor dysfunction in Drosophila.
Article in Genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 52 citations in OpenAlex.
- A novel homozygous COX6A1 variant causes axonal charcot-marie-tooth disease, developmental delays and mitochondrial dysfunction.Journal of human genetics · 2026Article
- Introgression and Genetic Diversity Between Two Cactophilic Drosophila (Drosophila repleta group) Species: A Case Study of an Isolated Population from the Sandstone Hills in the Southeast of Brazil.Neotropical entomology · 2025Article
- Dynamic changes in gene expression through aging in Drosophila melanogaster heads.G3 (Bethesda, Md.) · 2025Article
- Dynamic Changes in Gene Expression Through Aging inbioRxiv : the preprint server for biology · 2024Article
- Mitochondrial Neurodegeneration: Lessons fromBiomolecules · 2023Review
- The function of Scox in glial cells is essential for locomotive ability in Drosophila.Scientific reports · 2021Article
- Autophagy inhibition rescues structural and functional defects caused by the loss of mitochondrial chaperoneAutophagy · 2021Article
- Transcriptional activity and strain-specific history of mouse pseudogenes.Nature communications · 2020Article
- Advances in mt-tRNA Mutation-Caused Mitochondrial Disease Modeling: Patients' Brain in a Dish.Frontiers in genetics · 2020Review
- BKCells · 2019Article
- Overexpression of COX6B1 protects against I/R‑induced neuronal injury in rat hippocampal neurons.Molecular medicine reports · 2019Article
- Article
- Three Decades of Chloride Intracellular Channel Proteins: From Organelle to Organ Physiology.Current protocols in pharmacology · 2018Review
- Article
- Mitochondrial cytochrome c oxidase deficiency.Clinical science (London, England : 1979) · 2016Review
- Mitochondrial ROS and the Effectors of the Intrinsic Apoptotic Pathway in Aging Cells: The Discerning Killers!Frontiers in genetics · 2016Review
- LACK, a RACK1 ortholog, facilitates cytochrome c oxidase subunit expression to promote Leishmania major fitness.Molecular microbiology · 2015Article
- SDHAF4 promotes mitochondrial succinate dehydrogenase activity and prevents neurodegeneration.Cell metabolism · 2014Article
- Expression of alternative oxidase in Drosophila ameliorates diverse phenotypes due to cytochrome oxidase deficiency.Human molecular genetics · 2014Article
- Engineering the alternative oxidase gene to better understand and counteract mitochondrial defects: state of the art and perspectives.British journal of pharmacology · 2014Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondrial dysfunction is involved in many neurodegenerative disorders in humans. Here we report mutations in a gene (designated levy) that codes for subunit VIa of cytochrome c oxidase (COX). The mutations were identified by the phenotype of temperature-induced paralysis and showed the additional phenotypes of decreased COX activity, age-dependent bang-induced paralysis, progressive neurodegeneration, and reduced life span. Germ-line transformation using the levy(+) gene rescued the mutant flies from all phenotypes including neurodegeneration. The data from levy mutants reveal a COX-mediated pathway in Drosophila, disruption of which leads to mitochondrial encephalomyopathic effects including neurodegeneration, motor dysfunction, and premature death. The data present the first case of a mutation in a nuclear-encoded structural subunit of COX that causes mitochondrial encephalomyopathy rather than lethality, whereas several previous attempts to identify such mutations have not been successful. The levy mutants provide a genetic model to understand the mechanisms underlying COX-mediated mitochondrial encephalomyopathies and to explore possible therapeutic interventions.
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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.