Autor(en): | Matalon, Reuben Michals-Matalon, Kimberlee Surendran, Sankar Tyring, Stephen K. |
Titel: | Phenylketonuria |
Sonstige Titel: | Genomic interaction and the phenotype |
Sprache (ISO): | en |
Zusammenfassung: | 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. |
Schlagwörter: | metabolome Pah^enu2 mouse phenylalanine hydroxylase phenylketonuria proteome |
URI: | http://hdl.handle.net/2003/25643 http://dx.doi.org/10.17877/DE290R-12168 |
Erscheinungsdatum: | 2004-06-19 |
Enthalten in den Sammlungen: | Review Articles |
Dateien zu dieser Ressource:
Datei | Beschreibung | Größe | Format | |
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Surendran06-04proof.pdf | DNB | 289.88 kB | Adobe PDF | Öffnen/Anzeigen |
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