{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T19:54:19Z","timestamp":1760644459366},"reference-count":54,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2001,4,1]],"date-time":"2001-04-01T00:00:00Z","timestamp":986083200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2001,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Peroxisome biogenesis disorders (PBDs) are severe autosomal recessive neurological diseases caused by a defect of peroxisomal assembly factors. Zellweger syndrome, the most severe phenotype, is characterized by hypotonia, psychomotor retardation and neuronal migration disorder. Neonatal adrenoleukodystrophy and infantile Refsum disease are milder phenotypes of this disease. Thirteen complementation groups have been established since the genetic heterogeneity of PBDs was elucidated in 1988. Eleven genes for PBDs have been identified either by a functional complementation cloning or by EST homology searches. In 1992, the first gene for PBDs, <jats:italic>PEX2<\/jats:italic>, was identified. It encodes peroxisomal integral membrane protein with a RING finger domain. <jats:italic>PEX5<\/jats:italic> and <jats:italic>PEX7<\/jats:italic> are the genes for peroxisomal targeting signal (PTS)\u20101 and \u20102 receptors, respectively. <jats:italic>PEX<\/jats:italic>3, <jats:italic>PEX16<\/jats:italic> and <jats:italic>PEX19<\/jats:italic> are considered to be required for the early stage of peroxisome biogenesis. <jats:italic>PEX13<\/jats:italic> protein has an SH3 docking site that binds to the PTS\u20101 receptor. <jats:italic>PEX1<\/jats:italic> and <jats:italic>PEX6<\/jats:italic> encode ABC protein, and <jats:italic>PEX10<\/jats:italic> and <jats:italic>PEX12<\/jats:italic> also encode integral membrane protein, with RING finger. Temperature\u2010sensitivity, whereby peroxisomal biogenesis and metabolic dysfunctions are restored at 30\u00b0C in cells from mild phenotypes, is a useful event for predicting the clinical severity and for elucidation of peroxisome biogenesis. Investigations using knockout mice are expected to facilitate understanding of migration disorders.<\/jats:p>","DOI":"10.1023\/a:1010310816743","type":"journal-article","created":{"date-parts":[[2002,12,23]],"date-time":"2002-12-23T17:41:19Z","timestamp":1040665279000},"page":"151-165","source":"Crossref","is-referenced-by-count":20,"title":["Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders"],"prefix":"10.1002","volume":"24","author":[{"given":"Y.","family":"Suzuki","sequence":"first","affiliation":[{"name":"Department of Pediatrics Gifu University School of Medicine  Gifu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Shimozawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gifu University School of Medicine  Gifu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Imamura","sequence":"additional","affiliation":[{"name":"Department of 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