| http://purl.uniprot.org/citations/9632816 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9632816 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9632816 | http://www.w3.org/2000/01/rdf-schema#comment | "Rat PEX12 cDNA was isolated by functional complementation of peroxisome deficiency of a mutant CHO cell line, ZP109 (K. Okumoto, A. Bogaki, K. Tateishi, T. Tsukamoto, T. Osumi, N. Shimozawa, Y. Suzuki, T. Orii, and Y. Fujiki, Exp. Cell Res. 233:11-20, 1997), using a transient transfection assay and an ectopic, readily visible marker, green fluorescent protein. This cDNA encodes a 359-amino-acid membrane protein of peroxisomes with two transmembrane segments and a cysteine-rich zinc finger, the RING motif. A stable transformant of ZP109 with the PEX12 was morphologically and biochemically restored for peroxisome biogenesis. Pex12p was shown by expression of bona fide as well as epitope-tagged Pex12p to expose both N- and C-terminal regions to the cytosol. Fibroblasts derived from patients with the peroxisome deficiency Zellweger syndrome of complementation group III (CG-III) were also complemented for peroxisome biogenesis with PEX12. Two unrelated patients of this group manifesting peroxisome deficiency disorders possessed homozygous, inactivating PEX12 mutations: in one, Arg180Thr by one point mutation, and in the other, deletion of two nucleotides in codons for 291Asn and 292Ser, creating an apparently unchanged codon for Asn and a codon 292 for termination. These results indicate that the gene encoding peroxisome assembly factor Pex12p is a pathogenic gene of CG-III peroxisome deficiency. Moreover, truncation and site mutation studies, including patient PEX12 analysis, demonstrated that the cytoplasmically oriented N- and C-terminal parts of Pex12p are essential for biological function."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.org/dc/terms/identifier | "doi:10.1128/mcb.18.7.4324"xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.org/dc/terms/identifier | "doi:10.1128/mcb.18.7.4324"xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Suzuki Y."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Suzuki Y."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Kawai A."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Kawai A."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Kondo N."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Kondo N."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Tamura S."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Tamura S."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Wanders R.J.A."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Wanders R.J.A."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Fujiki Y."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Fujiki Y."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Moser H."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Moser H."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Okumoto K."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Okumoto K."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Osumi T."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Osumi T."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Shimozawa N."xsd:string |
| http://purl.uniprot.org/citations/9632816 | http://purl.uniprot.org/core/author | "Shimozawa N."xsd:string |