ArticleProceedings of the National Academy of Sciences of the United States of America1998
Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed, 150 citations in OpenAlex.
- PEX1The Journal of biological chemistry · 2025Article
- Zebrafish PEX1 Is Required for the Generation of GABAergic Neuron in p3 Domain.Development & reproduction · 2024Article
- Potential biomarkers in hypoglycemic brain injury.Forensic science, medicine, and pathology · 2024Article
- Quantitative subcellular reconstruction reveals a lipid mediated inter-organelle biogenesis network.Nature cell biology · 2024Article
- Structure of the peroxisomal Pex1/Pex6 ATPase complex bound to a substrate.Nature communications · 2023Article
- The Cys-N-degron pathway modulates pexophagy through the N-terminal oxidation and arginylation of ACAD10.Autophagy · 2023Article
- Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis.Cells · 2022Review
- Genetic aetiology of primary adrenal insufficiency in Chinese children.BMC medical genomics · 2021Article
- Review
- Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency.Frontiers in genetics · 2021Article
- The Nitric Oxide Donor,Frontiers in cell and developmental biology · 2021Article
- The Peroxisomal PTS1-Import Defect ofInternational journal of molecular sciences · 2020Article
- Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.International journal of molecular sciences · 2019Review
- Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes.Scientific reports · 2018Article
- Zellweger syndrome: Depiction of MRI findings in early infancy at 3.0 Tesla.The neuroradiology journal · 2017Article
- The PEX1 ATPase Stabilizes PEX6 and Plays Essential Roles in Peroxisome Biology.Plant physiology · 2017Article
- Genetic analysis of RNF213 p.R4810K variant in non-moyamoya intracranial artery stenosis/occlusion disease in a Chinese population.Environmental health and preventive medicine · 2017Article
- Structure and Function of p97 and Pex1/6 Type II AAA+ Complexes.Frontiers in molecular biosciences · 2017Review
- E3 ubiquitin ligase SP1 regulates peroxisome biogenesis in Arabidopsis.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Structures of the double-ring AAA ATPase Pex1-Pex6 involved in peroxisome biogenesis.The FEBS journal · 2016Review
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4 authors at 2 institutions in 1 country.
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Abstract
Peroxisomal matrix protein import requires the action of two AAA ATPases, PEX1 and PEX6. Mutations in either the PEX1 or PEX6 gene are the most common cause of the lethal neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease and account for disease in 80% of all such patients. We report here that overexpression of PEX6 can suppress the phenotypes of certain PEX1-deficient cells, that overexpression of PEX1 can suppress the phenotypes of certain PEX6-deficient cells, and that these instances of suppression are allele-specific and require partial activity of the mutated gene. In addition to genetic evidence for interaction between PEX1 and PEX6, we find that the PEX1 and PEX6 proteins interact in the yeast two-hybrid assay and physically associate with one another in vitro. We previously identified a missense mutation in PEX1, G843D, which attenuates PEX1 function and is the most common cause of these diseases, present in one-third of all such patients. The G843D mutation attenuates the interaction between PEX1 and PEX6 in both the two-hybrid system and in vitro and appears to be suppressed by overexpression of PEX6. We conclude that PEX1 and PEX6 form a complex of central importance to peroxisome biogenesis and that mutations affecting this complex constitute the most common cause of the Zellweger syndrome spectrum of diseases.
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