Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
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Sapropterin dihydrochloride for phenylketonuriaSapropterin dihydrochloride for phenylketonuriaSapropterin dihydrochloride for phenylketonuriaActivation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactorHuman cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAMPhenylketonuria: translating research into novel therapiesStructure of phenylalanine hydroxylase from Colwellia psychrerythraea 34H, a monomeric cold active enzyme with local flexibility around the active site and high overall stabilityProtein homeostasis disorders of key enzymes of amino acids metabolism: mutation-induced protein kinetic destabilization and new therapeutic strategies.Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria.Purification, crystallization and crystallographic analysis of Dictyostelium discoideum phenylalanine hydroxylase in complex with dihydrobiopterin and FeIII.New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride.Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.Novel pharmacological chaperones that correct phenylketonuria in mice.Phenylalanine hydroxylase deficiency.Dynamic regulation of phenylalanine hydroxylase by simulated redox manipulationPhenylalanine hydroxylase misfolding and pharmacological chaperones.Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria.Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuriaEvaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria.Up to date knowledge on different treatment strategies for phenylketonuria.Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.Functional polymorphisms of the brain serotonin synthesizing enzyme tryptophan hydroxylase-2.Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria.Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instabilityProgress toward cell-directed therapy for phenylketonuria.The effects of tetrahydrobiopterin (BH4) treatment on brain function in individuals with phenylketonuria.Development of the US English version of the phenylketonuria - quality of life (PKU-QOL) questionnairePhenylalanine hydroxylase: function, structure, and regulation.Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators.Clinical therapeutics for phenylketonuria.Genetics of Phenylketonuria: Then and Now.Tyrosine and tryptophan hydroxylases as therapeutic targets in human disease.Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain.Characterization of wild-type and mutant forms of human tryptophan hydroxylase 2.Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells.
P2860
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P2860
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh
2004年學術文章
@zh-hant
name
Correction of kinetic and stab ...... alanine hydroxylase mutations.
@en
Correction of kinetic and stab ...... alanine hydroxylase mutations.
@nl
type
label
Correction of kinetic and stab ...... alanine hydroxylase mutations.
@en
Correction of kinetic and stab ...... alanine hydroxylase mutations.
@nl
prefLabel
Correction of kinetic and stab ...... alanine hydroxylase mutations.
@en
Correction of kinetic and stab ...... alanine hydroxylase mutations.
@nl
P2093
P2860
P50
P356
P1476
Correction of kinetic and stab ...... alanine hydroxylase mutations.
@en
P2093
Alejandra Gámez
Belén Pérez
Cristina Aguado
Heidi Erlandsen
Lourdes R Desviat
Magdalena Ugarte
Reuben Matalon
Richard Koch
Stephen Tyring
P2860
P304
16903-16908
P356
10.1073/PNAS.0407256101
P407
P577
2004-11-19T00:00:00Z