ArticleAmerican journal of human genetics2000
Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, 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 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 109 citations in OpenAlex.
- Pooled it
- A mitochondria-driven quality control mechanism for peroxisomal membrane proteins.Nature communications · 2026Article
- Review
- Dysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficientFrontiers in molecular neuroscience · 2026Article
- Zellweger syndrome; identification of mutations inAnnals of medicine · 2025Article
- Modelling Peroxisomal Disorders in Zebrafish.Cells · 2025Review
- Germ cell-specific deletion ofJournal of biomedical research · 2023Article
- The Effect of aCells · 2022Article
- Article
- Control of mitochondrial dynamics and apoptotic pathways by peroxisomes.Frontiers in cell and developmental biology · 2022Review
- 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
- The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder.EMBO reports · 2021Article
- Novel Trypanocidal Inhibitors that Block Glycosome Biogenesis by Targeting PEX3-PEX19 Interaction.Frontiers in cell and developmental biology · 2021Article
- Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by aMolecular genetics and metabolism reports · 2020Article
- When Friendship Turns Sour: Effective Communication Between Mitochondria and Intracellular Organelles in Parkinson's Disease.Frontiers in cell and developmental biology · 2020Review
- Autophagy in the mammalian nervous system: a primer for neuroscientists.Neuronal signaling · 2019Review
- 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
- The making of a mammalian peroxisome, version 2.0: mitochondria get into the mix.Cell death and differentiation · 2017Review
- Glycosome biogenesis in trypanosomes and the de novo dilemma.PLoS neglected tropical diseases · 2017Review
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Zellweger cerebro-hepato-renal syndrome is a severe congenital disorder associated with defective peroxisomal biogenesis. At least 23 PEX genes have been reported to be essential for peroxisome biogenesis in various species, indicating the complexity of peroxisomal assembly. Cells from patients with peroxisomal biogenesis disorders have previously been shown to segregate into >/=12 complementation groups. Two patients assigned to complementation group G who had not been linked previously to a specific gene defect were confirmed as displaying a cellular phenotype characterized by a lack of even residual peroxisomal membrane structures. Here we demonstrate that this complementation group is associated with mutations in the PEX3 gene, encoding an integral peroxisomal membrane protein. Homozygous PEX3 mutations, each leading to C-terminal truncation of PEX3, were identified in the two patients, who both suffered from a severe Zellweger syndrome phenotype. One of the mutations involved a single-nucleotide insertion in exon 7, whereas the other was a single-nucleotide substitution eight nucleotides from the normal splice site in the 3' acceptor site of intron 10. Expression of wild-type PEX3 in the mutant cell lines restored peroxisomal biogenesis, whereas transfection of mutated PEX3 cDNA did not. This confirmed that the causative gene had been identified. The observation of peroxisomal formation in the absence of morphologically recognizable peroxisomal membranes challenges the theory that peroxisomes arise exclusively by growth and division from preexisting peroxisomes and establishes PEX3 as a key factor in early human peroxisome synthesis.
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