Full metadata record
DC Field | Value | Language |
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dc.contributor.author | 박혜영 | * |
dc.contributor.author | 정성철 | * |
dc.contributor.author | 박주원 | * |
dc.date.accessioned | 2016-08-28T12:08:11Z | - |
dc.date.available | 2016-08-28T12:08:11Z | - |
dc.date.issued | 2009 | * |
dc.identifier.issn | 0009-8981 | * |
dc.identifier.other | OAK-5434 | * |
dc.identifier.uri | https://dspace.ewha.ac.kr/handle/2015.oak/220141 | - |
dc.description.abstract | Background: Phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase (PAH), which catalyzes the conversion of phenylalanine to tyrosine. The resultant hyperphenylalaninemia causes mental retardation, seizure, and abnormalities in behavior and movement. Methods: We analyzed gene expression profiles in brain tissues of Pahenu2 mice to elucidate the mechanisms involved in phenylalanine-induced neurological damage. The altered gene expression was confirmed by real-time PCR and Western blotting. To identify markers associated with neurological damage, we examined TTR expression in serum by Western blotting. Results: Gene expression profiling of brain tissue from a mouse model of PKU revealed overexpression of transthyretin (Ttr), sclerostin domain containing 1 (Sostdc1), α-Klotho (Kl), prolactin receptor (Prlr), and early growth response 2 (Egr2). In contrast to its overexpression in the brain, TTR expression was low in the sera of PKU mice offered unrestricted access to a diet containing phenylalanine. Expression of TTR decreased in a time-dependent manner in phenylalanine-treated HepG2 cells. Conclusions: These findings indicate that Ttr, Sostdc1, Kl, Prlr, and Egr2 can be involved in the pathogenesis of PKU and that phenylalanine might have a direct effect on the level of TTR in serum. © 2008 Elsevier B.V. All rights reserved. | * |
dc.language | English | * |
dc.title | Altered brain gene expression profiles associated with the pathogenesis of phenylketonuria in a mouse model | * |
dc.type | Article | * |
dc.relation.issue | 41276 | * |
dc.relation.volume | 401 | * |
dc.relation.index | SCI | * |
dc.relation.index | SCIE | * |
dc.relation.index | SCOPUS | * |
dc.relation.startpage | 90 | * |
dc.relation.lastpage | 99 | * |
dc.relation.journaltitle | Clinica Chimica Acta | * |
dc.identifier.doi | 10.1016/j.cca.2008.11.019 | * |
dc.identifier.wosid | WOS:000263797000019 | * |
dc.identifier.scopusid | 2-s2.0-58549088673 | * |
dc.author.google | Park J.-W. | * |
dc.author.google | Park E.-S. | * |
dc.author.google | Choi E.N. | * |
dc.author.google | Park H.-Y. | * |
dc.author.google | Jung S.-C. | * |
dc.contributor.scopusid | 박혜영(7601567979) | * |
dc.contributor.scopusid | 정성철(57008539100) | * |
dc.contributor.scopusid | 박주원(8656832200) | * |
dc.date.modifydate | 20240301081003 | * |