ArticleJournal of inherited metabolic disease2014
Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease.
Article in Journal of inherited metabolic disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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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
19 citing papers in PubMed, 34 citations in OpenAlex.
- Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network.Diseases (Basel, Switzerland) · 2025Article
- Cardioprotective effects of CoQ10 in pediatric patients with lysosomal storage disorders.Italian journal of pediatrics · 2025Article
- An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies.Frontiers in cardiovascular medicine · 2025Review
- Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing.Frontiers in genetics · 2023Article
- Coenzyme Q10: Role in Less Common Age-Related Disorders.Antioxidants (Basel, Switzerland) · 2022Review
- Gaucher disease - more than just a rare lipid storage disease.Journal of molecular medicine (Berlin, Germany) · 2022Review
- The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy.Frontiers in pharmacology · 2022Review
- Oxidative Stress in Mucopolysaccharidoses: Pharmacological Implications.Molecules (Basel, Switzerland) · 2021Review
- Novel therapies for mucopolysaccharidosis type III.Journal of inherited metabolic disease · 2021Review
- Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches.International journal of molecular sciences · 2020Review
- Reactive Oxygen Species and Oxidative Stress in the Pathogenesis and Progression of Genetic Diseases of the Connective Tissue.Antioxidants (Basel, Switzerland) · 2020Review
- Disorders of Human Coenzyme Q10 Metabolism: An Overview.International journal of molecular sciences · 2020Review
- Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review.Journal of clinical medicine · 2020Review
- How close are we to therapies for Sanfilippo disease?Metabolic brain disease · 2018Review
- Coenzyme QOrphanet journal of rare diseases · 2017Article
- Mitochondrial dysfunction associated with glucocerebrosidase deficiency.Neurobiology of disease · 2016Review
- Coenzyme QJIMD reports · 2016Article
- Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease.Scientific reports · 2015Article
- Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.PloS one · 2015Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Coenzyme Q10 (CoQ10) plays a key role in the exchange of electrons in lysosomal membrane, which contributes to protons' translocation into the lumen and to the acidification of intra-lysosomal medium, which is essential for the proteolytic function of hydrolases responsible -when deficient- of a wide range of inherited lysosomal diseases such as Sanfilippo syndromes. Our aim was to evaluate whether treatment with CoQ10 or with an antioxidant cocktail (α-tocopherol, N-acetylcysteine and α-lipoic acid) were able to ameliorate the biochemical phenotype in cultured fibroblasts of Sanfilippo patients. Basal CoQ10 was analyzed in fibroblasts and Sanfilippo A patients showed decreased basal levels. However, no dysfunction in the CoQ10 biosynthesis pathways was found, revealing for the first time a secondary CoQ10 deficiency in Sanfilippo A fibroblasts. Cultured fibroblasts from five patients affected by Sanfilippo A and B diseases were treated with CoQ10 and an antioxidant cocktail. Upon CoQ10 treatment, none of the Sanfilippo A fibroblasts increased their residual enzymatic activity, but the two Sanfilippo B cell lines showed a statistically significant increase of their residual activity. The antioxidant treatment had no effect on the residual activity in all tested cell lines. Moreover, one Sanfilippo A and two Sanfilippo B fibroblasts showed a statistically significant reduction of glycosaminoglycans accumulation both, after 50 μmol/L CoQ10 and antioxidant treatment. Fibroblasts responsive to treatment enhanced their exocytosis levels. Our results are encouraging as some cellular alterations observed in Sanfilippo syndrome can be partially restored by CoQ10 or other antioxidant treatment in some patients.
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