{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:41:06Z","timestamp":1791207666106,"version":"4.1.0"},"reference-count":50,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,4,1]],"date-time":"2011-04-01T00:00:00Z","timestamp":1301616000000},"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 Cellular Biochemistry"],"published-print":{"date-parts":[[2011,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Peroxisome biogenesis disorders (PBDs) are multisystemic autosomal recessive disorders resulting from mutations in <jats:italic>PEX<\/jats:italic> genes required for normal peroxisome assembly and metabolic activities. Here, we evaluated the potential effectiveness of aminoglycoside G418 (geneticin) and PTC124 (ataluren) nonsense suppression therapies for the treatment of PBD patients with disease\u2010causing nonsense mutations. PBD patient skin fibroblasts producing stable <jats:italic>PEX2<\/jats:italic> or <jats:italic>PEX12<\/jats:italic> nonsense transcripts and Chinese hamster ovary (CHO) cells with a <jats:italic>Pex2<\/jats:italic> nonsense allele all showed dramatic improvements in peroxisomal very long chain fatty acid catabolism and plasmalogen biosynthesis in response to G418 treatments. Cell imaging assays provided complementary confirmatory evidence of improved peroxisome assembly in G418\u2010treated patient fibroblasts. In contrast, we observed no appreciable rescue of peroxisome lipid metabolism or assembly for any patient fibroblast or CHO cell culture treated with various doses of PTC124. Additionally, PTC124 did not show measurable nonsense suppression in immunoblot assays that directly evaluated the read\u2010through of <jats:italic>PEX7<\/jats:italic> nonsense alleles found in PBD patients with rhizomelic chondrodysplasia punctata type 1 (RCDP1). Overall, our results support the continued development of safe and effective nonsense suppressor therapies that could benefit a significant subset of individuals with PBDs. Furthermore, we suggest that the described cell culture assay systems could be useful for evaluating and screening for novel nonsense suppressor therapies. J. Cell. Biochem. 112: 1250\u20131258, 2011. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/jcb.22979","type":"journal-article","created":{"date-parts":[[2010,12,28]],"date-time":"2010-12-28T14:20:33Z","timestamp":1293546033000},"page":"1250-1258","source":"Crossref","is-referenced-by-count":56,"title":["Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific <i>PEX<\/i> gene mutations"],"prefix":"10.1002","volume":"112","author":[{"given":"Patricia K.","family":"Dranchak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erminia","family":"Di Pietro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Snowden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan","family":"Oesch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy E.","family":"Braverman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven J.","family":"Steinberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph G.","family":"Hacia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,4]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"crossref","first-page":"13191","DOI":"10.1016\/S0021-9258(18)42193-X","article-title":"Partial phenotypic suppression of a peroxisome\u2010deficient animal cell mutant treated with aminoglycoside G418","volume":"267","author":"Allen LA","year":"1992","journal-title":"J Biol Chem"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0813345106"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0909141107"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20100699"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)38802-7"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.6080"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10124"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.12.005"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.163.7.2004001"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0711795105"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000036609.14203.70"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2006.08.038"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tox.2008.04.015"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1039\/B712690P"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1177\/0091270006297140"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0905457106"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-03-1307"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.1289803"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700031"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61168-X"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI28523"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22024"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.taap.2007.05.004"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2926"},{"key":"e_1_2_6_26_1","first-page":"177","volume-title":"Measurement of saturated very long chain fatty acids in plasma","author":"Moser HW","year":"1991"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-1759(83)90303-4"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1086\/338998"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0901936106"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2006.02057.x"},{"key":"e_1_2_6_31_1","first-page":"15","article-title":"Gentamicin administration in Duchenne patients with premature stop codon. 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