Article
Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.
Human molecular genetics - 15 May 2010
Gersting Søren W, Lagler Florian B, Eichinger Anna, Kemter Kristina F, Danecka Marta K, Messing Dunja D, Staudigl Michael, Domdey Katharina A, Zsifkovits Clemens, Fingerhut Ralph, Glossmann Hartmut, Roscher Adelbert A, Muntau Ania C
Abstract excerpt
The recent approval of sapropterin dihydrochloride, the synthetic form of 6[R]-l-erythro-5,6,7,8-tetrahydrobiopterin (BH(4)), for the treatment of phenylketonuria (PKU) as the first pharmacological chaperone drug initiated a paradigm change in the treatment of monogenetic diseases. Symptomatic treatment is now replaced by a causal pharmacological therapy correcting misfolding of the defective phenylalanine...
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