Search Results - "Messing, Dunja D."

Loss of Function in Phenylketonuria Is Caused by Impaired Molecular Motions and Conformational Instability by Gersting, Søren W., Kemter, Kristina F., Staudigl, Michael, Messing, Dunja D., Danecka, Marta K., Lagler, Florian B., Sommerhoff, Christian P., Roscher, Adelbert A., Muntau, Ania C.

“…A significant share of patients with phenylalanine hydroxylase (PAH) deficiency benefits from pharmacological doses of tetrahydrobiopterin (BH 4), the natural…”
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The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response by STAUDIGL, Michael, GERSTING, Soren W, DANECKA, Marta K, MESSING, Dunja D, WOIDY, Mathias, PINKAS, Daniel, KEMTER, Kristina F, BLAU, Nenad, MUNTAU, Ania C

“…The discovery of a pharmacological treatment for phenylketonuria (PKU) raised new questions about function and dysfunction of phenylalanine hydroxylase (PAH),…”
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Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening by Maier, Esther M., Gersting, Søren W., Kemter, Kristina F., Jank, Johanna M., Reindl, Maria, Messing, Dunja D., Truger, Marietta S., Sommerhoff, Christian P., Muntau, Ania C.

“…Newborn screening (NBS) for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) revealed a higher birth prevalence and genotypic variability than previously…”
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Activation of Phenylalanine Hydroxylase Induces Positive Cooperativity toward the Natural Cofactor by Gersting, Søren W., Staudigl, Michael, Truger, Marietta S., Messing, Dunja D., Danecka, Marta K., Sommerhoff, Christian P., Kemter, Kristina F., Muntau, Ania C.

“…Protein misfolding with loss-of-function of the enzyme phenylalanine hydroxylase (PAH) is the molecular basis of phenylketonuria in many individuals carrying…”
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Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo by 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.

“…The recent approval of sapropterin dihydrochloride, the synthetic form of 6[R]-l-erythro-5,6,7,8-tetrahydrobiopterin (BH4), for the treatment of…”
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Pah enu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo by 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.

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Pah super(e)nu1is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo by Gersting, Soeren 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

“…The recent approval of sapropterin dihydrochloride, the synthetic form of 6[R]-l-erythro-5,6,7,8-tetrahydrobiopterin (BH sub(4)), for the treatment of…”
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