Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis.
Cannet C et al.
Molecules (basel, Switzerland), 2023
Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants.
Sarodaya N et al.
Scientific Reports, 2022
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
A noncoding RNA modulator potentiates phenylalanine metabolism in mice.
Li Y et al.
Science (new York, N.y.), 2021
In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder.
Lopez A et al.
Proteins, 2021
Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.
Ferreira F et al.
Molecular Genetics & Genomic Medicine, 2021
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
Rajabi F et al.
Molecular Genetics and Metabolism, 2019
Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.
Vieira Neto E et al.
Molecular Genetics & Genomic Medicine, 2019
Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations.
Scheller R et al.
Human Mutation, 2019
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Garbade SF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Simulations of the regulatory ACT domain of human phenylalanine hydroxylase (PAH) unveil its mechanism of phenylalanine binding.
Ge Y et al.
The Journal of Biological Chemistry, 2018
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2018
Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.
Vieira Neto E et al.
Molecular Genetics & Genomic Medicine, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
PKU mutation p.G46S prevents the stereospecific binding of l-phenylalanine to the dimer of human phenylalanine hydroxylase regulatory domain.
Leandro J et al.
Febs Open Bio, 2017
The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014.
Ohlsson A et al.
Jimd Reports, 2017
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L et al.
Journal of Human Genetics, 2016
Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain.
Patel D et al.
Scientific Reports, 2016
[Hereditary metabolic diseases with onset in adulthood. Early and correct treatment of acute symptoms can be life-saving].
Oscarson M et al.
Lakartidningen, 2016
Towards the identification of the allosteric Phe-binding site in phenylalanine hydroxylase.
Carluccio C et al.
Journal of Biomolecular Structure & Dynamics, 2016
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.
Trunzo R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.
Maruo Y et al.
World Journal of Pediatrics : Wjp, 2015
Phenylketonuria: translating research into novel therapies.
Ho G et al.
Translational Pediatrics, 2014
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.
Ho G et al.
Jimd Reports, 2014
Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.
Heintz C et al.
Human Mutation, 2013
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
Couce ML et al.
Gene, 2013
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
Bueno MA et al.
Journal of Human Genetics, 2013
Risk factors for developing mineral bone disease in phenylketonuric patients.
Mirás A et al.
Molecular Genetics and Metabolism, 2013
A new model for allosteric regulation of phenylalanine hydroxylase: implications for disease and therapeutics.
Jaffe EK et al.
Archives of Biochemistry and Biophysics, 2013
Structural features of the regulatory ACT domain of phenylalanine hydroxylase.
Carluccio C et al.
Plos One, 2013
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
Shi Z et al.
Proteins, 2012
Heterotetrameric forms of human phenylalanine hydroxylase: co-expression of wild-type and mutant forms in a bicistronic system.
Leandro J et al.
Biochimica Et Biophysica Acta, 2011
Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays.
Poulsen L et al.
Plos One, 2011
Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation.
Leandro J et al.
Biochimica Et Biophysica Acta, 2011
The G46S-hPAH mutant protein: a model to study the rescue of aggregation-prone PKU mutations by chaperones.
Leandro J et al.
Molecular Genetics and Metabolism, 2011
The PAH gene, phenylketonuria, and a paradigm shift.
Scriver CR
Human Mutation, 2007
Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin.
Wang L et al.
Genetic Testing, 2007
How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression.
Waters PJ
Human Mutation, 2003
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.
Aulehla-Scholz C et al.
Human Mutation, 2003
The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited.
O'Donnell KA et al.
European Journal of Human Genetics : Ejhg, 2002
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