ArticleAmerican journal of human genetics2000
PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 77 citations in OpenAlex.
- 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
- Review
- Fluorescent fatty acid conjugates for live cell imaging of peroxisomes.Nature communications · 2024Article
- The Effect of aCells · 2022Article
- Silencing PEX26 as an unconventional mode to kill drug-resistant cancer cells and forestall drug resistance.Autophagy · 2022Article
- Quantitative Proteomics and Differential Protein Abundance Analysis after the Depletion of PEX3 from Human Cells Identifies Additional Aspects of Protein Targeting to the ER.International journal of molecular sciences · 2021Article
- Carvacrol and PPARγ agonist, pioglitazone, affects inhaled paraquat-induced lung injury in rats.Scientific reports · 2021Article
- Novel Trypanocidal Inhibitors that Block Glycosome Biogenesis by Targeting PEX3-PEX19 Interaction.Frontiers in cell and developmental biology · 2021Article
- Peroxisome Deficiency Dysregulates Fatty Acid Oxidization and Exacerbates Lipotoxicity inOxidative medicine and cellular longevity · 2021Article
- Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by aMolecular genetics and metabolism reports · 2020Article
- Peroxisome prognostications: Exploring the birth, life, and death of an organelle.The Journal of cell biology · 2020Review
- Peroxisome: Metabolic Functions and Biogenesis.Advances in experimental medicine and biology · 2020Review
- Glycosome biogenesis in trypanosomes and the de novo dilemma.PLoS neglected tropical diseases · 2017Review
- Article
- Article
- Peroxisome biogenesis disorders.Translational science of rare diseases · 2016Article
- Peroxisome biogenesis and human peroxisome-deficiency disorders.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2016Review
- Dysregulation of Plasmalogen Homeostasis Impairs Cholesterol Biosynthesis.The Journal of biological chemistry · 2015Article
- Activation of Type I and III Interferon Response by Mitochondrial and Peroxisomal MAVS and Inhibition by Hepatitis C Virus.PLoS pathogens · 2015Article
- Pex11mediates peroxisomal proliferation by promoting deformation of the lipid membrane.Biology open · 2015Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Peroxisome biogenesis disorders (PBDs) such as Zellweger syndrome (ZS) and neonatal adrenoleukodystrophy are autosomal recessive diseases caused by defects in peroxisome assembly, for which 13 genotypes have been identified. Expression of the human peroxin Pex3p cDNA encoding a 373-amino-acid peroxisomal membrane protein morphologically and biochemically restored peroxisome biogenesis, including peroxisomal membrane assembly, in fibroblasts from PBDG-02, a patient with complementation group G (CG-G) ZS. Patient PBDG-02 carried a homozygous, inactivating mutation-a 97-bp deletion of nucleotide residues at positions 942-1038-resulting in a 32-amino-acid truncation and in a frameshift inducing both a 3-amino-acid substitution and a termination codon. Genomic PCR analysis revealed mutation of T-->G at eight bases upstream of the splicing site at the boundary of intron 10 and exon 11 of PEX3 gene, giving rise to a deletion of all of exon 11. When assessed by expression in a pex3 mutant of Chinese hamster ovary cells and the patient's fibroblasts, PBDG-02-derived PEX3 cDNA was found to be defective in peroxisome-restoring activity. These results provide evidence that PEX3 is a novel, pathogenic gene responsible for CG-G PBDs.
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