Loss of Function in Phenylketonuria Is Caused by Impaired Molecular Motions and Conformational Instability-Reference-Cited by-同舟云学术

Loss of Function in Phenylketonuria Is Caused by Impaired Molecular Motions and Conformational Instability

Published:2008-07 Issue:1 Volume:83 Page:5-17
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference40 articles.

1. The PAH gene, phenylketonuria, and a paradigm shift;Scriver;Hum. Mutat.,2007

2. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria;Muntau;N. Engl. J. Med.,2002

3. Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations;Erlandsen;Proc. Natl. Acad. Sci. USA,2004

4. Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations;Pey;Hum. Mutat.,2004

5. How PAH gene mutations cause hyperphenylalaninemia and why mechanism matters: insights from in vitro expression;Waters;Hum. Mutat.,2003

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