{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T05:14:29Z","timestamp":1790054069578,"version":"4.0.1"},"reference-count":28,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2003,8,1]],"date-time":"2003-08-01T00:00:00Z","timestamp":1059696000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2003,8,1]],"date-time":"2003-08-01T00:00:00Z","timestamp":1059696000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":3640,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100008695","name":"Japan Foundation for Applied Enzymology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008695","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008732","name":"Uehara Memorial Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008732","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["12206069"],"award-info":[{"award-number":["12206069"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["12308033"],"award-info":[{"award-number":["12308033"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["12557017"],"award-info":[{"award-number":["12557017"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["13206060"],"award-info":[{"award-number":["13206060"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["14037253"],"award-info":[{"award-number":["14037253"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["15032242"],"award-info":[{"award-number":["15032242"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["15207014"],"award-info":[{"award-number":["15207014"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001695","name":"Japan Science and Technology Corporation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001695","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007428","name":"Naito Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007428","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["RR 00052"],"award-info":[{"award-number":["RR 00052"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2003,8]]},"DOI":"10.1086\/377004","type":"journal-article","created":{"date-parts":[[2003,7,28]],"date-time":"2003-07-28T16:57:02Z","timestamp":1059411422000},"page":"233-246","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":75,"title":["Mutations in Novel Peroxin Gene PEX26 That Cause Peroxisome-Biogenesis Disorders of Complementation Group 8 Provide a Genotype-Phenotype Correlation"],"prefix":"10.1016","volume":"73","author":[{"given":"Naomi","family":"Matsumoto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigehiko","family":"Tamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satomi","family":"Furuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Non","family":"Miyata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Moser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuyuki","family":"Shimozawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo W.","family":"Moser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuyuki","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi","family":"Kondo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukio","family":"Fujiki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/377004_bib3","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/ng0497-369","article-title":"Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata","volume":"15","author":"Braverman","year":"1997","journal-title":"Nat Genet"},{"key":"10.1086\/377004_bib4","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1038\/ng0295-115","article-title":"Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders","volume":"9","author":"Dodt","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/377004_bib5","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/S0014-5793(00)01667-7","article-title":"Peroxisome biogenesis and peroxisome biogenesis disorders","volume":"476","author":"Fujiki","year":"2000","journal-title":"FEBS Lett"},{"key":"10.1086\/377004_bib6","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1086\/303086","article-title":"PEX3 is the causal gene responsible for peroxisome membrane assembly\u2013defective Zellweger syndrome of complementation group G","volume":"67","author":"Ghaedi","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1086\/377004_bib7","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1006\/excr.1999.4412","article-title":"Newly identified Chinese hamster ovary cell mutants defective in peroxisome assembly represent complementation group A of human peroxisome biogenesis disorders and one novel group in mammals","volume":"248","author":"Ghaedi","year":"1999","journal-title":"Exp Cell Res"},{"key":"10.1086\/377004_bib8","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1016\/S0168-9525(00)02056-4","article-title":"Peroxisome biogenesis disorders: genetics and cell biology","volume":"16","author":"Gould","year":"2000","journal-title":"Trends Genet"},{"key":"10.1086\/377004_bib9","doi-asserted-by":"crossref","first-page":"1622","DOI":"10.1086\/302161","article-title":"Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D","volume":"63","author":"Honsho","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1086\/377004_bib10","doi-asserted-by":"crossref","first-page":"2089","DOI":"10.1093\/hmg\/7.13.2089","article-title":"Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders","volume":"7","author":"Imamura","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1086\/377004_bib11","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1086\/301881","article-title":"Temperature-sensitive phenotypes of peroxisome assembly processes represent the milder forms of human peroxisome-biogenesis disorders","volume":"62","author":"Imamura","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1086\/377004_bib12","first-page":"2287","article-title":"Disorders of peroxisome biogenesis","volume":"Vol 7","author":"Lazarow","year":"1995"},{"key":"10.1086\/377004_bib13","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1038\/ncb982","article-title":"The pathogenic peroxin Pex26p recruits the Pex1p\u2013Pex6p AAA-ATPase complexes to peroxisomes","volume":"5","author":"Matsumoto","year":"2003","journal-title":"Nat Cell Biol"},{"key":"10.1086\/377004_bib14","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1007\/s100380170078","article-title":"The peroxin Pex6p gene is impaired in peroxisome biogenesis disorders of complementation group 6","volume":"46","author":"Matsumoto","year":"2001","journal-title":"J Hum Genet"},{"key":"10.1086\/377004_bib15","first-page":"83","article-title":"Peroxisome targeting signal of rat liver acyl-coenzyme A oxidase resides at the carboxy terminus","volume":"9","author":"Miyazawa","year":"1989","journal-title":"Mol Cell Biol"},{"key":"10.1086\/377004_bib16","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/0304-4165(90)90066-6","article-title":"A rapid selection for animal cell mutants with defective peroxisomes","volume":"1034","author":"Morand","year":"1990","journal-title":"Biochim Biophys Acta"},{"key":"10.1086\/377004_bib17","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0022-3476(95)70250-4","article-title":"Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups","volume":"127","author":"Moser","year":"1995","journal-title":"J Pediatr"},{"key":"10.1086\/377004_bib18","doi-asserted-by":"crossref","first-page":"9548","DOI":"10.1074\/jbc.M108635200","article-title":"Intracellular localization, function, and dysfunction of the peroxisome-targeting signal type 2 receptor, Pex7p, in mammalian cells","volume":"277","author":"Mukai","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1086\/377004_bib19","doi-asserted-by":"crossref","first-page":"1639","DOI":"10.1128\/MCB.22.6.1639-1655.2002","article-title":"Peroxisomal targeting signal receptor Pex5p interacts with cargoes and import machinery components in a spatiotemporally differentiated manner: conserved Pex5p WXXXF\/Y motifs are critical for matrix protein import","volume":"22","author":"Otera","year":"2002","journal-title":"Mol Cell Biol"},{"key":"10.1086\/377004_bib20","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1128\/MCB.18.1.388","article-title":"Peroxisome targeting signal type 1 (PTS1) receptor is involved in import of both PTS1 and PTS2: studies with PEX5-defective CHO cell mutants","volume":"18","author":"Otera","year":"1998","journal-title":"Mol Cell Biol"},{"key":"10.1086\/377004_bib21","doi-asserted-by":"crossref","first-page":"12593","DOI":"10.1074\/jbc.274.18.12593","article-title":"The peroxin Pex14p: cDNA cloning by functional complementation on a Chinese hamster ovary cell mutant, characterization, and functional analysis","volume":"274","author":"Shimizu","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1086\/377004_bib22","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1093\/hmg\/8.6.1077","article-title":"Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders","volume":"8","author":"Shimozawa","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1086\/377004_bib23","doi-asserted-by":"crossref","first-page":"1864","DOI":"10.1172\/JCI116063","article-title":"Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome","volume":"90","author":"Shimozawa","year":"1992","journal-title":"J Clin Invest"},{"key":"10.1086\/377004_bib24","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1042\/bj3570417","article-title":"Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction","volume":"357","author":"Tamura","year":"2001","journal-title":"Biochem J"},{"key":"10.1086\/377004_bib25","doi-asserted-by":"crossref","first-page":"4350","DOI":"10.1073\/pnas.95.8.4350","article-title":"Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I","volume":"95","author":"Tamura","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/377004_bib26","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1083\/jcb.110.3.651","article-title":"Isolation and characterization of Chinese hamster ovary cell mutants defective in assembly of peroxisomes","volume":"110","author":"Tsukamoto","year":"1990","journal-title":"J Cell Biol"},{"key":"10.1086\/377004_bib27","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1146\/annurev.bi.61.070192.001105","article-title":"Biochemistry of peroxisomes","volume":"61","author":"van den Bosch","year":"1992","journal-title":"Annu Rev Biochem"},{"key":"10.1086\/377004_bib28","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1086\/321265","article-title":"Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels","volume":"69","author":"Walter","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1086\/377004_bib29","doi-asserted-by":"crossref","first-page":"2914","DOI":"10.1002\/j.1460-2075.1996.tb00654.x","article-title":"The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor","volume":"15","author":"Yahraus","year":"1996","journal-title":"EMBO J"},{"key":"10.1086\/377004_bib30","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/S0006-291X(02)00219-X","article-title":"Isolation of Chinese hamster ovary cell pex mutants: two PEX7-defective mutants","volume":"293","author":"Yanago","year":"2002","journal-title":"Biochem Biophys Res Commun"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707619144?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707619144?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:13:54Z","timestamp":1762078434000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707619144"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,8]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,8]]}},"alternative-id":["S0002929707619144"],"URL":"https:\/\/doi.org\/10.1086\/377004","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2003,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations in Novel Peroxin Gene PEX26 That Cause Peroxisome-Biogenesis Disorders of Complementation Group 8 Provide a Genotype-Phenotype Correlation","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1086\/377004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2003 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}