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

No abstract is available for this paper.

• Publication year

  2016

• Venue

  Molecular Genetics and Metabolism

• Publication date

  2016-03-01

• Fields of study

  Biology, Medicine, Chemistry

• Identifiers
  DOI 10.1016/j.ymgme.2016.01.004PMID 26803807
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Tetrahydrobiopterin.

  2020cited by this paper
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  2015cited by this paper
• Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, BH4 responsiveness and evidence of a founder effect

  2015cited by this paper
• Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.

  2015cited by this paper
• Linking genotypes database with locus-specific database and genotype–phenotype correlation in phenylketonuria

  2014influential reference
• Molecular genetics and diagnosis of phenylketonuria: state of the art

  2014influential reference
• Molecular genetics and diagnosis of phenylketonuria : state of the art Expert

  2014cited by this paper
• Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.

  2013cited by this paper
• Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.

  2013cited by this paper
• Structural Features of the Regulatory ACT Domain of Phenylalanine Hydroxylase

  2013cited by this paper
• Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria

  2013cited by this paper
• Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase

  2012cited by this paper
• Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.

  2012cited by this paper
• Heterotetrameric forms of human phenylalanine hydroxylase: co-expression of wild-type and mutant forms in a bicistronic system.

  2011cited by this paper
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  2011cited by this paper
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  2011cited by this paper
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  2011cited by this paper
• The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response.

  2011cited by this paper
• Phenylketonuria.

  2010cited by this paper
• Variations in genotype-phenotype correlations in phenylketonuria patients.

  2010cited by this paper
• Dominant negative factors in health and disease

  2009cited by this paper
• Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria

  2009cited by this paper
• Functional and structural characterization of novel mutations and genotype–phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy

  2009cited by this paper
• Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients

  2009cited by this paper
• Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.

  2008cited by this paper
• Molecular genetics of tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency

  2008cited by this paper
• The PAH gene, phenylketonuria, and a paradigm shift

  2007cited by this paper
• Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.

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  2006cited by this paper
• The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: an isothermal titration calorimetry study.

  2005influential reference
• The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

  2004cited by this paper
• Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.

  2004cited by this paper
• Phenylketonuria: Genotype–phenotype correlations based on expression analysis of structural and functional mutations in PAH

  2003cited by this paper
• Phenylketonuria mutations in Europe

  2003cited by this paper
• In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: correlation with metabolic phenotypes and susceptibility toward protein aggregation.

  2001cited by this paper
• Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics.

  2000cited by this paper
• Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

  1999influential reference
• The structural basis of phenylketonuria.

  1999cited by this paper
• In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function

  1998cited by this paper
• Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.

  1993cited by this paper
• Diagnosis?

  1987cited by this paper
• Interallelic complementation in vivo and in vitro.

  1965cited by this paper
• Send Orders of Reprints at Reprints@benthamscience.net Phenylalanine Hydroxylase Misfolding and Pharmacological Chaperones †

  year unknowncited by this paper

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  2025cites this paper
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  2021cites this paper
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  2020cites this paper
• Tetrahydrobiopterin in phenylketonuria: Who can benefit?

  2020cites this paper
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  2020cites this paper
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  2019cites this paper
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