Associated Papers
Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2024
Identification of the Allosteric Site for Phenylalanine in Rat Phenylalanine Hydroxylase.
Zhang S et al.
The Journal of Biological Chemistry, 2016
A new model for allosteric regulation of phenylalanine hydroxylase: implications for disease and therapeutics.
Jaffe EK et al.
Archives of Biochemistry and Biophysics, 2013
Allosteric regulation of phenylalanine hydroxylase.
Fitzpatrick PF
Archives of Biochemistry and Biophysics, 2012
Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays.
Poulsen L et al.
Plos One, 2011
Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine.
Gjetting T et al.
American Journal of Human Genetics, 2001
Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.
Jennings IG et al.
European Journal of Human Genetics : Ejhg, 2000
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
Guldberg P et al.
American Journal of Human Genetics, 1998
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nowacki PM et al.
Nucleic Acids Research, 1998
Identical SRY mutations with different phenotypic effects.
Mittwoch U
American Journal of Human Genetics, 1993
Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.
Okano Y et al.
American Journal of Human Genetics, 1990
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