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Immunocytochemical analysis of cultured fibroblasts demonstrated that the cells contain peroxisomal remnants lacking apparent matrix protein content and PEX14, a central membrane component of the peroxisomal matrix protein import machinery. Transfection of fibroblasts with a plasmid coding for wild-type PEX14 restored peroxisomal matrix protein import. Mutational analysis of this gene revealed a genomic deletion leading to the deletion of exon 3 from the coding DNA (c.85-?_170+?del) and a concomitant change of the reading frame (p.[Ile29_Lys56del;Gly57GlyfsX2]).<\/jats:p>","DOI":"10.1136\/bcr.07.2008.0503","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T13:33:18Z","timestamp":1232717598000},"page":"bcr0720080503","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Identification of a novel <i>PEX14<\/i> mutation in Zellweger syndrome"],"prefix":"10.1136","volume":"2009","author":[{"given":"Sofie J","family":"Huybrechts","sequence":"first","affiliation":[{"name":"K.U.Leuven, Moleculaire Celbiologie, Campust Gasthuisberg ON1, Herestraat 49 box 601, Leuven, 3000, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul P","family":"Van Veldhoven","sequence":"additional","affiliation":[{"name":"K.U.Leuven, Moleculaire Celbiologie, Campust Gasthuisberg ON1, Herestraat 49 box 601, Leuven, 3000, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilse","family":"Hoffman","sequence":"additional","affiliation":[{"name":"K.U.Leuven, Vrouw & Kind, UZ Leuven, Leuven, 3000, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renate","family":"Zeevaert","sequence":"additional","affiliation":[{"name":"K.U.Leuven, Vrouw & Kind, UZ Leuven, Leuven, 3000, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"de Vos","sequence":"additional","affiliation":[{"name":"K.U.Leuven, Medische Diagnostische Wetenschappen, UZ Leuven, Leuven, 3000, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Demaerel","sequence":"additional","affiliation":[{"name":"K.U.Leuven, Medische Diagnostische Wetenschappen, UZ Leuven, Leuven, 3000, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marijke","family":"Brams","sequence":"additional","affiliation":[{"name":"Campus Gasthuisberg ON1, Moleculaire Celbiologie, Herestraat 49 box 601, Leuven, B-3000, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaak","family":"Jaeken","sequence":"additional","affiliation":[{"name":"K.U.Leuven, Vrouw & Kind, UZ Leuven, Leuven, 3000, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Fransen","sequence":"additional","affiliation":[{"name":"Campus Gasthuisberg ON1, Moleculaire Celbiologie, Herestraat 49 box 601, Leuven, B-3000, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Cassiman","sequence":"additional","affiliation":[{"name":"K.U.Leuven, Vrouw & Kind, UZ Leuven, Leuven, 3000, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,8,8]]},"reference":[{"key":"2025082709525868000_2009.aug06_1.bcr0720080503.1","doi-asserted-by":"publisher","DOI":"10.1385\/CBB:32:1-3:73"},{"key":"2025082709525868000_2009.aug06_1.bcr0720080503.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2006.08.010"},{"key":"2025082709525868000_2009.aug06_1.bcr0720080503.3","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0516-z"},{"key":"2025082709525868000_2009.aug06_1.bcr0720080503.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2006.09.010"},{"key":"2025082709525868000_2009.aug06_1.bcr0720080503.5","doi-asserted-by":"publisher","DOI":"10.1126\/science.182.4107.62"},{"key":"2025082709525868000_2009.aug06_1.bcr0720080503.6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20032"},{"key":"2025082709525868000_2009.aug06_1.bcr0720080503.7","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.14.8087"},{"key":"2025082709525868000_2009.aug06_1.bcr0720080503.8","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.18.12593"},{"key":"2025082709525868000_2009.aug06_1.bcr0720080503.9","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.19.3.2265"},{"key":"2025082709525868000_2009.aug06_1.bcr0720080503.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2006.09.002"},{"key":"2025082709525868000_2009.aug06_1.bcr0720080503.11","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2002.6714"},{"key":"2025082709525868000_2009.aug06_1.bcr0720080503.12","doi-asserted-by":"crossref","first-page":"2343","DOI":"10.1038\/sj.onc.1206324","article-title":"Screening for gene mutations in a 500 kb neuroblastoma tumor suppressor candidate region in chromosome 1p; 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