ArticleBiochimica et biophysica acta2014
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.
Article in Biochimica et biophysica acta, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 73 citations in OpenAlex.
- Novel duck reovirus σC hijacks the mitochondrial COQ6-CoQ10 axis to drive NLRP3-dependent pyroptosis.PLoS pathogens · 2026Article
- Preclinical and first-in-human evidence of 4-hydroxybenzoic acid for mitochondrial COQ2 deficiency.Brain : a journal of neurology · 2026Article
- Bypass Treatments for Primary Coenzyme Q10 Deficiency: An Update.International journal of molecular sciences · 2026Review
- The treatment of primary CoQ deficiency requires the targeting of multiple pathogenic mechanisms.Communications medicine · 2025Article
- Natural Hydroxybenzoic and Hydroxycinnamic Acids Derivatives: Mechanisms of Action and Therapeutic Applications.Antioxidants (Basel, Switzerland) · 2025Review
- Novel coenzyme Q6 genetic variant increases susceptibility to pneumococcal disease.Nature immunology · 2024Article
- Understanding coenzyme Q.Physiological reviews · 2024Review
- Mitochondrial disease and epilepsy in children.Frontiers in neurology · 2024Review
- Biosynthesis, Deficiency, and Supplementation of Coenzyme Q.Antioxidants (Basel, Switzerland) · 2023Review
- New Insights on the Uptake and Trafficking of Coenzyme Q.Antioxidants (Basel, Switzerland) · 2023Review
- Neuroimaging in Primary Coenzyme-QAntioxidants (Basel, Switzerland) · 2023Review
- Predicting and Understanding the Pathology of Single Nucleotide Variants in HumanAntioxidants (Basel, Switzerland) · 2022Article
- Effect of Pinoresinol and Vanillic Acid Isolated fromMolecules (Basel, Switzerland) · 2022Article
- Vanillic acid induces mitochondrial biogenesis in SH-SY5Y cells.Molecular biology reports · 2022Article
- Mechanisms and Therapeutic Effects of Benzoquinone Ring Analogs in Primary CoQ Deficiencies.Antioxidants (Basel, Switzerland) · 2022Review
- Coenzyme Q at the Hinge of Health and Metabolic Diseases.Antioxidants (Basel, Switzerland) · 2021Review
- Primary coenzyme Q10 nephropathy, a potentially treatable form of steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2021Review
- Animal Models of Coenzyme Q Deficiency: Mechanistic and Translational Learnings.Antioxidants (Basel, Switzerland) · 2021Review
- The glomerular filtration barrier: a structural target for novel kidney therapies.Nature reviews. Drug discovery · 2021Review
- Cellular Models for Primary CoQ Deficiency Pathogenesis Study.International journal of molecular sciences · 2021Review
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Authors and funding
9 authors at 8 institutions in 4 countries.
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Abstract
Human COQ6 encodes a monooxygenase which is responsible for the C5-hydroxylation of the quinone ring of coenzyme Q (CoQ). Mutations in COQ6 cause primary CoQ deficiency, a condition responsive to oral CoQ10 supplementation. Treatment is however still problematic given the poor bioavailability of CoQ10. We employed S. cerevisiae lacking the orthologous gene to characterize the two different human COQ6 isoforms and the mutations found in patients. COQ6 isoform a can partially complement the defective yeast, while isoform b, which lacks part of the FAD-binding domain, is inactive but partially stable, and could have a regulatory/inhibitory function in CoQ10 biosynthesis. Most mutations identified in patients, including the frameshift Q461fs478X mutation, retain residual enzymatic activity, and all patients carry at least one hypomorphic allele, confirming that the complete block of CoQ biosynthesis is lethal. These mutants are also partially stable and allow the assembly of the CoQ biosynthetic complex. In fact treatment with two hydroxylated analogues of 4-hydroxybenzoic acid, namely, vanillic acid or 3-4-hydroxybenzoic acid, restored the respiratory growth of yeast Δcoq6 cells expressing the mutant huCOQ6-isoa proteins. These compounds, and particularly vanillic acid, could therefore represent an interesting therapeutic option for COQ6 patients.
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