| pubmed-article:9632816 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9632816 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:9632816 | lifeskim:mentions | umls-concept:C1257890 | lld:lifeskim |
| pubmed-article:9632816 | lifeskim:mentions | umls-concept:C0085080 | lld:lifeskim |
| pubmed-article:9632816 | lifeskim:mentions | umls-concept:C0009015 | lld:lifeskim |
| pubmed-article:9632816 | lifeskim:mentions | umls-concept:C0043459 | lld:lifeskim |
| pubmed-article:9632816 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:9632816 | lifeskim:mentions | umls-concept:C0006556 | lld:lifeskim |
| pubmed-article:9632816 | lifeskim:mentions | umls-concept:C0205245 | lld:lifeskim |
| pubmed-article:9632816 | lifeskim:mentions | umls-concept:C1418473 | lld:lifeskim |
| pubmed-article:9632816 | lifeskim:mentions | umls-concept:C0596988 | lld:lifeskim |
| pubmed-article:9632816 | lifeskim:mentions | umls-concept:C0936012 | lld:lifeskim |
| pubmed-article:9632816 | lifeskim:mentions | umls-concept:C1880022 | lld:lifeskim |
| pubmed-article:9632816 | lifeskim:mentions | umls-concept:C0450254 | lld:lifeskim |
| pubmed-article:9632816 | pubmed:issue | 7 | lld:pubmed |
| pubmed-article:9632816 | pubmed:dateCreated | 1998-7-16 | lld:pubmed |
| pubmed-article:9632816 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9632816 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9632816 | pubmed:abstractText | 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. | lld:pubmed |
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| pubmed-article:9632816 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9632816 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9632816 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9632816 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:9632816 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9632816 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:9632816 | pubmed:issn | 0270-7306 | lld:pubmed |
| pubmed-article:9632816 | pubmed:author | pubmed-author:SuzukiYY | lld:pubmed |
| pubmed-article:9632816 | pubmed:author | pubmed-author:KondoNN | lld:pubmed |
| pubmed-article:9632816 | pubmed:author | pubmed-author:TamuraSS | lld:pubmed |
| pubmed-article:9632816 | pubmed:author | pubmed-author:KawaiAA | lld:pubmed |
| pubmed-article:9632816 | pubmed:author | pubmed-author:OsumiTT | lld:pubmed |
| pubmed-article:9632816 | pubmed:author | pubmed-author:TsukamotoTT | lld:pubmed |
| pubmed-article:9632816 | pubmed:author | pubmed-author:MoserHH | lld:pubmed |
