Article
The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response.
Human molecular genetics - 1 Jul 2011
Staudigl Michael, Gersting Søren W, Danecka Marta K, Messing Dunja D, Woidy Mathias, Pinkas Daniel, Kemter Kristina F, Blau Nenad, Muntau Ania C
Abstract excerpt
The discovery of a pharmacological treatment for phenylketonuria (PKU) raised new questions about function and dysfunction of phenylalanine hydroxylase (PAH), the enzyme deficient in this disease. To investigate the interdependence of the genotype, the metabolic state (phenylalanine substrate) and treatment (BH(4) cofactor) in the context of enzyme function in vitro and in vivo, we (i) used a fluorescence-based...
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