Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism

Author:

Eichinger Anna1,Danecka Marta K2,Möglich Tamara1,Borsch Julia1,Woidy Mathias3,Büttner Lars1,Muntau Ania C3,Gersting Søren W2

Affiliation:

1. Molecular Pediatrics, Dr von Hauner Children’s Hospital, Ludwig-Maximilians-Universität, Munich, Germany

2. University Children’s Research, Kinder-UKE

3. University Children’s Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Reference71 articles.

1. Human phenylalanine hydroxylase gene expression in kidney and other nonhepatic tissues;Lichter-Konecki;Mol. Genet. Metab,1999

2. Human phenylalanine hydroxylase is activated by H2O2: a novel mechanism for increasing the L-tyrosine supply for melanogenesis in melanocytes;Schallreuter;Biochem. Biophys. Res. Commun,2004

3. Phenylketonuria: an inborn error of phenylalanine metabolism;Williams;Clin Biochem Rev,2008

4. The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England;Hardelid;Ann. Hum. Genet,2008

5. Das erweiterte Neugeborenenscreening

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