Genetics of Phenylketonuria: Then and Now

Identification of the Allosteric Site for Phenylalanine in Rat Phenylalanine Hydroxylase

(2016) Shengnan Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation

(2016) Nan Shen et al.   MOLECULAR GENETICS AND METABOLISM

First structure of full-length mammalian phenylalanine hydroxylase reveals the architecture of an autoinhibited tetramer

(2016) Emilia C. Arturo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Amino Acid Specificity for Activation of Phenylalanine Hydroxylase Matches the Specificity for Stabilization of Regulatory Domain Dimers

(2015) Shengnan Zhang et al.   BIOCHEMISTRY

Phenylalanine hydroxylase deficiency in south Italy: Genotype–phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness

(2015) Roberta Trunzo et al.   CLINICA CHIMICA ACTA

Alternative therapies to address the unmet medical needs of patients with phenylketonuria

(2015) Nenad Blau et al.   EXPERT OPINION ON PHARMACOTHERAPY

Mapping the functional landscape of frequentphenylalanine hydroxylase(PAH) genotypes promotes personalised medicine in phenylketonuria

(2015) Marta K Danecka et al.   JOURNAL OF MEDICAL GENETICS

Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria

(2015) Jing Tao et al.   PEDIATRIC RESEARCH

Linking genotypes database with locus-specific database and genotype–phenotype correlation in phenylketonuria

(2014) Sarah Wettstein et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular genetics and diagnosis of phenylketonuria: state of the art

(2014) Nenad Blau et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Treatment of phenylketonuria using minicircle-based naked-DNA gene transfer to murine liver

(2014) Hiu Man Viecelli et al.   HEPATOLOGY

Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pahenu2 mice

(2014) Luigia Rossi et al.   JOURNAL OF CONTROLLED RELEASE

Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators

(2014) Ania C. Muntau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Phenylketonuria Scientific Review Conference: State of the science and future research needs

(2014) Kathryn M. Camp et al.   MOLECULAR GENETICS AND METABOLISM

A new model for allosteric regulation of phenylalanine hydroxylase: Implications for disease and therapeutics

(2013) Eileen K. Jaffe et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Tetrahydrobiopterin: biochemistry and pathophysiology

(2013) Ernst R. Werner et al.   BIOCHEMICAL JOURNAL

Hyperphenylalaninemia in the Czech Republic: Genotype–phenotype correlations and in silico analysis of novel missense mutations

(2013) Kamila Réblová et al.   CLINICA CHIMICA ACTA

Phenylalanine Hydroxylase Misfolding and Pharmacological Chaperones

(2013) Jarl Underhaug et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing

(2013) Daniel Trujillano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Phenylalanine hydroxylase deficiency in the Slovak population: Genotype–phenotype correlations and genotype-based predictions of BH4-responsiveness

(2013) Emil Polak et al.   GENE

Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria

(2013) Caroline Heintz et al.   HUMAN MUTATION

Molecular epidemiology and genotype–phenotype correlation in phenylketonuria patients from South Spain

(2013) María A Bueno et al.   JOURNAL OF HUMAN GENETICS

Erythrocytes encapsulated with phenylalanine hydroxylase exhibit improved pharmacokinetics and lowered plasma phenylalanine levels in normal mice

(2013) Nelson S. Yew et al.   MOLECULAR GENETICS AND METABOLISM

Novel pharmacological chaperones that correct phenylketonuria in mice

(2012) Sandra Santos-Sierra et al.   HUMAN MOLECULAR GENETICS

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia

(2012) Thomas Opladen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study

(2012) Jun Ye et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Phenylalanine hydroxylase deficiency

(2011) John J. Mitchell et al.   GENETICS IN MEDICINE

The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response

(2011) M. Staudigl et al.   HUMAN MOLECULAR GENETICS

Nutrition in phenylketonuria

(2011) A. MacDonald et al.   MOLECULAR GENETICS AND METABOLISM

Diet in phenylketonuria: A snapshot of special dietary costs and reimbursement systems in 10 international centers

(2011) A. Belanger-Quintana et al.   MOLECULAR GENETICS AND METABOLISM

The reality of dietary compliance in the management of phenylketonuria

(2010) Anita MacDonald et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Phenylketonuria

(2010) Nenad Blau et al.   LANCET

Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy

(2009) Aurora Daniele et al.   FEBS Journal

Disorders of biopterin metabolism

(2009) Nicola Longo   JOURNAL OF INHERITED METABOLIC DISEASE

Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study

(2009) Friedrich K. Trefz et al.   JOURNAL OF PEDIATRICS

Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency

(2009) F. Porta et al.   NEUROLOGY

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

(2008) Søren W. Gersting et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene

(2008) Dani Bercovich et al.   JOURNAL OF HUMAN GENETICS

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

(2007) Marcel R. Zurflüh et al.   HUMAN MUTATION