Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.
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New Strategies for the Treatment of Phenylketonuria (PKU)Disease mutations in disordered regions--exception to the rule?Structural and mechanistic basis of the interaction between a pharmacological chaperone and human phenylalanine hydroxylaseInduced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 DeficiencyPrefoldin Promotes Proteasomal Degradation of Cytosolic Proteins with Missense Mutations by Maintaining Substrate Solubility.Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiencyAutosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12Protein homeostasis disorders of key enzymes of amino acids metabolism: mutation-induced protein kinetic destabilization and new therapeutic strategies.In silico Mapping of Protein Unfolding Mutations for Inherited DiseaseFolding dynamics of phenylalanine hydroxylase depends on the enzyme's metallation state: the native metal, iron, protects against aggregate intermediates.Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer.Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutationsUsing protein design algorithms to understand the molecular basis of disease caused by protein-DNA interactions: the Pax6 example.Phenylalanine hydroxylase misfolding and pharmacological chaperones.Impact of the 237th residue on the folding of human carbonic anhydrase II.Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuriaUp to date knowledge on different treatment strategies for phenylketonuria.In silico analysis of missense substitutions using sequence-alignment based methods.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 instabilityDomain Movements upon Activation of Phenylalanine Hydroxylase Characterized by Crystallography and Chromatography-Coupled Small-Angle X-ray Scattering.Shaping dots and lines: adding modularity into protein interaction networks using structural information.Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency.Phenylalanine hydroxylase: function, structure, and regulation.Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.The yin-yang of kinase activation and unfolding explains the peculiarity of Val600 in the activation segment of BRAF.Understanding and predicting protein misfolding and aggregation: Insights from proteomics.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.Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain.Computational study of missense mutations in phenylalanine hydroxylase.Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.Assessing the correlation between mutant rhodopsin stability and the severity of retinitis pigmentosaFunctional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.The complete European guidelines on phenylketonuria: diagnosis and treatment.
P2860
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P2860
Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Predicted effects of missense ...... radigm of misfolding diseases.
@en
Predicted effects of missense ...... radigm of misfolding diseases.
@nl
type
label
Predicted effects of missense ...... radigm of misfolding diseases.
@en
Predicted effects of missense ...... radigm of misfolding diseases.
@nl
altLabel
Predicted effects of missense ...... aradigm of misfolding diseases
@en
prefLabel
Predicted effects of missense ...... radigm of misfolding diseases.
@en
Predicted effects of missense ...... radigm of misfolding diseases.
@nl
P2860
P356
P1476
Predicted effects of missense ...... radigm of misfolding diseases.
@en
P2093
Francois Stricher
Luis Serrano
P2860
P304
P356
10.1086/521879
P407
P577
2007-10-02T00:00:00Z