Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.
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Phenylketonuria: translating research into novel therapiesProtein homeostasis disorders of key enzymes of amino acids metabolism: mutation-induced protein kinetic destabilization and new therapeutic strategies.Folding dynamics of phenylalanine hydroxylase depends on the enzyme's metallation state: the native metal, iron, protects against aggregate intermediates.Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.A mass spectrometry plate reader: monitoring enzyme activity and inhibition with a Desorption/Ionization on Silicon (DIOS) platform.Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.A functional alternative splicing mutation in human tryptophan hydroxylase-2.Role of GSK3 beta in behavioral abnormalities induced by serotonin deficiency.Targeting tryptophan hydroxylase 2 in affective disorder.Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuriaPersonalized biochemistry and biophysics.Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.Functional polymorphisms of the brain serotonin synthesizing enzyme tryptophan hydroxylase-2.Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instabilityTetrahydrobiopterin, 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.Molecular genetics and diagnosis of phenylketonuria: state of the art.Protein Stability, Folding and Misfolding in Human PGK1 Deficiency.Genetics of Phenylketonuria: Then and Now.Protein misfolding diseases: prospects of pharmacological treatment.Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells.Computational study of missense mutations in phenylalanine hydroxylase.Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.Genotype and natural history in unrelated individuals with phenylketonuria and autistic behavior.Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.Oligodendrocyte development and myelinogenesis are not impaired by high concentrations of phenylalanine or its metabolites.Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.
P2860
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P2860
Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
2003年论文
@zh
2003年论文
@zh-cn
name
Phenylketonuria: genotype-phen ...... d functional mutations in PAH.
@en
type
label
Phenylketonuria: genotype-phen ...... d functional mutations in PAH.
@en
prefLabel
Phenylketonuria: genotype-phen ...... d functional mutations in PAH.
@en
P2093
P2860
P356
P1433
P1476
Phenylketonuria: genotype-phen ...... d functional mutations in PAH.
@en
P2093
Alejandra Gámez
Belén Pérez
Lourdes R Desviat
Magdalena Ugarte
P2860
P304
P356
10.1002/HUMU.10198
P50
P577
2003-04-01T00:00:00Z