ArticleAmerican journal of human genetics2003
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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31 citing papers in PubMed.
- Polyunsaturated fatty acid metabolism in the retinal pigment epithelium and its association with outer retinal disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Eduomics: a Nextflow pipeline to simulate -omics data for education.NAR genomics and bioinformatics · 2026Article
- Pex6 and ubiquitination regulate topological remodeling of the peroxisomal membrane protein Pex14.The Journal of biological chemistry · 2026Article
- Zellweger syndrome; identification of mutations inAnnals of medicine · 2025Article
- Biallelic Deletion ofMolecular syndromology · 2024Article
- Identification of a novel heterozygous variant in theTranslational pediatrics · 2024Article
- Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis.Cells · 2022Review
- Article
- Hypothyroidism Intensifies Both Canonic and theCells · 2021Article
- Article
- A novel mutation in theMolecular genetics and metabolism reports · 2021Article
- Identification of a HomozygousGenes · 2021Article
- Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency.Frontiers in genetics · 2021Article
- Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- A newly identified mutation in theCold Spring Harbor molecular case studies · 2019Article
- Infection-Induced Peroxisome Biogenesis Is a Metabolic Strategy for Herpesvirus Replication.Cell host & microbe · 2018Article
- Pexophagy: Molecular Mechanisms and Implications for Health and Diseases.Molecules and cells · 2018Review
- Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, andMolecular genetics & genomic medicine · 2017Article
- Peroxisomes in brain development and function.Biochimica et biophysica acta · 2016Review
- Peroxisome biogenesis and human peroxisome-deficiency disorders.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2016Review
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10 authors.
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Abstract
The human disorders of peroxisome biogenesis (PBDs) are subdivided into 12 complementation groups (CGs). CG8 is one of the more common of these and is associated with varying phenotypes, ranging from the most severe, Zellweger syndrome (ZS), to the milder neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). PEX26, encoding the 305-amino-acid membrane peroxin, has been shown to be deficient in CG8. We studied the PEX26 genotype in fibroblasts of eight CG8 patients--four with the ZS phenotype, two with NALD, and two with IRD. Catalase was mostly cytosolic in all these cell lines, but import of the proteins that contained PTS1, the SKL peroxisome targeting sequence, was normal. Expression of PEX26 reestablished peroxisomes in all eight cell lines, confirming that PEX26 defects are pathogenic in CG8 patients. When cells were cultured at 30 degrees C, catalase import was restored in the cell lines from patients with the NALD and IRD phenotypes, but to a much lesser extent in those with the ZS phenotype, indicating that temperature sensitivity varied inversely with the severity of the clinical phenotype. Several types of mutations were identified, including homozygous G89R mutations in two patients with ZS. Expression of these PEX26 mutations in pex26 Chinese hamster ovary cells resulted in cell phenotypes similar to those in the human cell lines. These findings confirm that the degree of temperature sensitivity in pex26 cell lines is predictive of the clinical phenotype in patients with PEX26 deficiency.
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