Phenylketonuria

Matalon, Reuben; Michals-Matalon, Kimberlee; Surendran, Sankar; Tyring, Stephen K.

Phenylketonuria

dc.contributor.author	Matalon, Reuben	de
dc.contributor.author	Michals-Matalon, Kimberlee	de
dc.contributor.author	Surendran, Sankar	de
dc.contributor.author	Tyring, Stephen K.	de
dc.date.accessioned	2008-06-17T13:49:32Z
dc.date.available	2008-06-17T13:49:32Z
dc.date.issued	2004-06-19	de
dc.description.abstract	Genome research is emerging as a new and important tool in biology used to obtain information on gene sequences, genomic interaction, and how genes work in concert to produce the final syndrome or phenotype. Defect in phenylalanine hydroxylase (PAH) gene result in Phenylketonuria (PKU). Molecular studies using the brain of the mouse model for PKU (PAHenu2) showed altered expression of several genes including upregulation of orexin A and a low activity of branched chain aminotransferase. These studies suggest that a single gene (PAH) defect is associated with altered expression, transcription and translation of other genes. It is the combination of the primary gene defect, the altered expression of other genes, and the new metabolic environment that is created, which lead to the phenotype.	en
dc.identifier.issn	1611-2156	de
dc.identifier.uri	http://hdl.handle.net/2003/25643
dc.identifier.uri	http://dx.doi.org/10.17877/DE290R-12168
dc.language.iso	en	de
dc.relation.ispartofseries	EXCLI Journal ; Vol. 3, 2004	en
dc.subject	metabolome	en
dc.subject	Pah^enu2 mouse	en
dc.subject	phenylalanine hydroxylase	en
dc.subject	phenylketonuria	en
dc.subject	proteome	en
dc.subject.ddc	610
dc.title	Phenylketonuria	en
dc.title.alternative	Genomic interaction and the phenotype	en
dc.type	Text	de
dc.type.publicationtype	article	de
dcterms.accessRights	open access
eldorado.dnb.zdberstkatid	2132560-1

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