ArticleOrphanet journal of rare diseases2013
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24 citing papers in PubMed, 35 citations in OpenAlex.
- A brief history of the human liver peroxisome.Histochemistry and cell biology · 2026Review
- Review
- PEX1The Journal of biological chemistry · 2025Article
- Comparison of Caregiver-Reported Dietary Intake Methods in Zellweger Spectrum Disorder.Nutrients · 2025Article
- The peroxisome: an update on mysteries 3.0.Histochemistry and cell biology · 2024Review
- Review
- Purification of a Recombinant Human PEX1/PEX6 AAA+ ATPase Complex from HEK293TT Cells.Methods in molecular biology (Clifton, N.J.) · 2023Article
- The Key Role of Peroxisomes in Follicular Growth, Oocyte Maturation, Ovulation, and Steroid Biosynthesis.Oxidative medicine and cellular longevity · 2022Review
- Article
- VPS13D promotes peroxisome biogenesis.The Journal of cell biology · 2021Article
- Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect.Frontiers in cell and developmental biology · 2021Article
- Accurate and live peroxisome biogenesis evaluation achieved by lentiviral expression of a green fluorescent protein fused to a peroxisome targeting signal 1.Histochemistry and cell biology · 2020Article
- Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.Advances in experimental medicine and biology · 2020Article
- Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.International journal of molecular sciences · 2019Review
- Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.Orphanet journal of rare diseases · 2018Article
- Review
- Peroxisome biogenesis disorders.Translational science of rare diseases · 2016Article
- Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.Molecular genetics and metabolism · 2016Review
- Zellweger spectrum disorders: clinical overview and management approach.Orphanet journal of rare diseases · 2015Review
- Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.Genetics in medicine : official journal of the American College of Medical Genetics · 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
backgroundZellweger spectrum disorders (ZSDs) are multisystem genetic disorders caused by a lack of functional peroxisomes, due to mutations in one of the PEX genes, encoding proteins involved in peroxisome biogenesis. The phenotypic spectrum of ZSDs ranges from an early lethal form to much milder presentations. In cultured skin fibroblasts from mildly affected patients, peroxisome biogenesis can be partially impaired which results in a mosaic catalase immunofluorescence pattern. This peroxisomal mosaicism has been described for specific missense mutations in various PEX genes. In cell lines displaying peroxisomal mosaicism, peroxisome biogenesis can be improved when these are cultured at 30°C. This suggests that these missense mutations affect the folding and/or stability of the encoded protein. We have studied if the function of mutant PEX1, PEX6 and PEX12 can be improved by promoting protein folding using the chemical chaperone arginine.
methodsFibroblasts from three PEX1 patients, one PEX6 and one PEX12 patient were cultured in the presence of different concentrations of arginine. To determine the effect on peroxisome biogenesis we studied the following parameters: number of peroxisome-positive cells, levels of PEX1 protein and processed thiolase, and the capacity to β-oxidize very long chain fatty acids and pristanic acid.
resultsPeroxisome biogenesis and function in fibroblasts with mild missense mutations in PEX1, 6 and 12 can be improved by arginine.
conclusionArginine may be an interesting compound to promote peroxisome function in patients with a mild peroxisome biogenesis disorder.
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