{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T01:04:30Z","timestamp":1779930270407,"version":"3.53.1"},"reference-count":11,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[1999,5,26]]},"published-print":{"date-parts":[[1999,10,1]]},"abstract":"<jats:p>Peroxisome biogenesis disorders (PBD) comprise three phenotypes including Zellweger syndrome (ZS) (the most severe), neonatal adrenoleucodystrophy, and infantile Refsum disease (IRD) (the most mild), and can be classified into at least 12 genetic complementation groups, which are not predictive of the phenotypes. Several pathogenic genes for PBD groups have been identified, but the relationship between the defective gene products and phenotypic heterogeneity has remained unclear. We identified a mutation in the<jats:italic>PEX2<\/jats:italic> gene in an IRD patient with compound heterozygosity for a missense mutation and the known nonsense mutation detected in ZS patients. In transfection experiments using the peroxisome deficient CHO mutant, Z65 with a nonsense mutation in the<jats:italic>PEX2<\/jats:italic> gene, we noted the E55K mutation had mosaic activities of peroxisomal protein import machinery and residual activities of peroxisomal functions, including dihydroxyacetone phosphate acyltransferase and \u03b2 oxidation of very long chain fatty acids. The nonsense mutation severely affects these peroxisomal functions as well as the protein import. These data suggest that allelic heterogeneity of the <jats:italic>PEX<\/jats:italic> gene affects the peroxisomal protein import and functions and regulates the clinical severity in PBD.<\/jats:p>","DOI":"10.1136\/jmg.36.10.779","type":"journal-article","created":{"date-parts":[[2013,2,15]],"date-time":"2013-02-15T13:28:56Z","timestamp":1360934936000},"page":"779-781","source":"Crossref","is-referenced-by-count":25,"title":["Defective <i>PEX<\/i> gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders"],"prefix":"10.1136","volume":"36","author":[{"given":"Nobuyuki","family":"Shimozawa","sequence":"first","affiliation":[{"name":"aDepartment of Paediatrics, Gifu University School of Medicine, 40 Tsukasa-machi, Gifu 500-8076, Japan, \n\nbFaculty of Human Welfare, Chubu Gakuin University, Seki 501-3936, Japan, \n\ncDepartment of Life Science, Himeji Institute of Technology, Kamigori, Hyogo 678-1297, Japan, \n\ndDepartment of Biology, Faculty of Science, Kyushu University, Fukuoka 812-8581, Japan, \n\neDepartment of Paediatrics and Clinical Chemistry, University of Amsterdam, The Netherlands, \n\nfWillink Biochemical Genetics Unit, Royal Manch"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Imamura","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Gifu University School of Medicine, 40 Tsukasa-machi, Gifu 500-8076, Japan, \n\nbFaculty of Human Welfare, Chubu Gakuin University, Seki 501-3936, Japan, \n\ncDepartment of Life Science, Himeji Institute of Technology, Kamigori, Hyogo 678-1297, Japan, \n\ndDepartment of Biology, Faculty of Science, Kyushu University, Fukuoka 812-8581, Japan, \n\neDepartment of Paediatrics and Clinical Chemistry, University of Amsterdam, The Netherlands, \n\nfWillink Biochemical Genetics Unit, Royal Manch"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongyi","family":"Zhang","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Gifu University School of Medicine, 40 Tsukasa-machi, Gifu 500-8076, Japan, \n\nbFaculty of Human Welfare, Chubu Gakuin University, Seki 501-3936, Japan, \n\ncDepartment of Life Science, Himeji Institute of Technology, Kamigori, Hyogo 678-1297, Japan, \n\ndDepartment of Biology, Faculty of Science, Kyushu University, Fukuoka 812-8581, Japan, \n\neDepartment of Paediatrics and Clinical Chemistry, University of Amsterdam, The Netherlands, \n\nfWillink Biochemical Genetics Unit, Royal Manch"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuyuki","family":"Suzuki","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Gifu University School of Medicine, 40 Tsukasa-machi, Gifu 500-8076, Japan, \n\nbFaculty of Human Welfare, Chubu Gakuin University, Seki 501-3936, Japan, \n\ncDepartment of Life Science, Himeji Institute of Technology, Kamigori, Hyogo 678-1297, Japan, \n\ndDepartment of Biology, Faculty of Science, Kyushu University, Fukuoka 812-8581, Japan, \n\neDepartment of Paediatrics and Clinical Chemistry, University of Amsterdam, The Netherlands, \n\nfWillink Biochemical Genetics Unit, Royal Manch"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadao","family":"Orii","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Gifu University School of Medicine, 40 Tsukasa-machi, Gifu 500-8076, Japan, \n\nbFaculty of Human Welfare, Chubu Gakuin University, Seki 501-3936, Japan, \n\ncDepartment of Life Science, Himeji Institute of Technology, Kamigori, Hyogo 678-1297, Japan, \n\ndDepartment of Biology, Faculty of Science, Kyushu University, Fukuoka 812-8581, Japan, \n\neDepartment of Paediatrics and Clinical Chemistry, University of Amsterdam, The Netherlands, \n\nfWillink Biochemical Genetics Unit, Royal Manch"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiro","family":"Tsukamoto","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Gifu University School of Medicine, 40 Tsukasa-machi, Gifu 500-8076, Japan, \n\nbFaculty of Human Welfare, Chubu Gakuin University, Seki 501-3936, Japan, \n\ncDepartment of Life Science, Himeji Institute of Technology, Kamigori, Hyogo 678-1297, Japan, \n\ndDepartment of Biology, Faculty of Science, Kyushu University, Fukuoka 812-8581, Japan, \n\neDepartment of Paediatrics and Clinical Chemistry, University of Amsterdam, The Netherlands, \n\nfWillink Biochemical Genetics Unit, Royal Manch"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Osumi","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Gifu University School of Medicine, 40 Tsukasa-machi, Gifu 500-8076, Japan, \n\nbFaculty of Human Welfare, Chubu Gakuin University, Seki 501-3936, Japan, \n\ncDepartment of Life Science, Himeji Institute of Technology, Kamigori, Hyogo 678-1297, Japan, \n\ndDepartment of Biology, Faculty of Science, Kyushu University, Fukuoka 812-8581, Japan, \n\neDepartment of Paediatrics and Clinical Chemistry, University of Amsterdam, The Netherlands, \n\nfWillink Biochemical Genetics Unit, Royal Manch"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukio","family":"Fujiki","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Gifu University School of Medicine, 40 Tsukasa-machi, Gifu 500-8076, Japan, \n\nbFaculty of Human Welfare, Chubu Gakuin University, Seki 501-3936, Japan, \n\ncDepartment of Life Science, Himeji Institute of Technology, Kamigori, Hyogo 678-1297, Japan, \n\ndDepartment of Biology, Faculty of Science, Kyushu University, Fukuoka 812-8581, Japan, \n\neDepartment of Paediatrics and Clinical Chemistry, University of Amsterdam, The Netherlands, \n\nfWillink Biochemical Genetics Unit, Royal Manch"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J A","family":"Wanders","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Gifu University School of Medicine, 40 Tsukasa-machi, Gifu 500-8076, Japan, \n\nbFaculty of Human Welfare, Chubu Gakuin University, Seki 501-3936, Japan, \n\ncDepartment of Life Science, Himeji Institute of Technology, Kamigori, Hyogo 678-1297, Japan, \n\ndDepartment of Biology, Faculty of Science, Kyushu University, Fukuoka 812-8581, Japan, \n\neDepartment of Paediatrics and Clinical Chemistry, University of Amsterdam, The Netherlands, \n\nfWillink Biochemical Genetics Unit, Royal Manch"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Besley","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Gifu University School of Medicine, 40 Tsukasa-machi, Gifu 500-8076, Japan, \n\nbFaculty of Human Welfare, Chubu Gakuin University, Seki 501-3936, Japan, \n\ncDepartment of Life Science, Himeji Institute of Technology, Kamigori, Hyogo 678-1297, Japan, \n\ndDepartment of Biology, Faculty of Science, Kyushu University, Fukuoka 812-8581, Japan, \n\neDepartment of Paediatrics and Clinical Chemistry, University of Amsterdam, The Netherlands, \n\nfWillink Biochemical Genetics Unit, Royal Manch"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi","family":"Kondo","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Gifu University School of Medicine, 40 Tsukasa-machi, Gifu 500-8076, Japan, \n\nbFaculty of Human Welfare, Chubu Gakuin University, Seki 501-3936, Japan, \n\ncDepartment of Life Science, Himeji Institute of Technology, Kamigori, Hyogo 678-1297, Japan, \n\ndDepartment of Biology, Faculty of Science, Kyushu University, Fukuoka 812-8581, Japan, \n\neDepartment of Paediatrics and Clinical Chemistry, University of Amsterdam, The Netherlands, \n\nfWillink Biochemical Genetics Unit, Royal 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