about
Phenylketonuria: translating research into novel therapiesMissense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanineFolding 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 comparison of kinetic and regulatory properties of the tetrameric and dimeric forms of wild-type and Thr427-->Pro mutant human phenylalanine hydroxylase: contribution of the flexible hinge region Asp425-Gln429 to the tetramerization and cooperativIdentification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report.Mutagenesis of the regulatory domain of phenylalanine hydroxylase.Long-term enzymatic and phenotypic correction in the phenylketonuria mouse model by adeno-associated virus vector-mediated gene transfer.Phenylalanine hydroxylase misfolding and pharmacological chaperones.Phenylketonuria: an inborn error of phenylalanine metabolism.GCH1, BH4 and pain13C-phenylalanine breath test detects altered phenylalanine kinetics in schizophrenia patients.First structure of full-length mammalian phenylalanine hydroxylase reveals the architecture of an autoinhibited tetramerLoss of function in phenylketonuria is caused by impaired molecular motions and conformational instabilityProtective effect of recombinant adeno-associated virus 2/8-mediated gene therapy from the maternal hyperphenylalaninemia in offsprings of a mouse model of phenylketonuria.Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adultsCorrection of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.Genetics of Phenylketonuria: Then and Now.Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.Computational study of missense mutations in phenylalanine hydroxylase.Structural and stability effects of phosphorylation: Localized structural changes in phenylalanine hydroxylasePredicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.Structural features of the regulatory ACT domain of phenylalanine hydroxylase.Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease.Phosphorylation and mutations of Ser(16) in human phenylalanine hydroxylase. Kinetic and structural effects.Probing cofactor specificity in phenylalanine hydroxylase by molecular dynamics simulations.A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.Quantifying the intragenic distribution of human disease mutations.Biopterin responsive phenylalanine hydroxylase deficiency.Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.Phenylacetylglycine, a putative biomarker of phospholipidosis: its origins and relevance to phospholipid accumulation using amiodarone treated rats as a model.Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.PAHdb: a locus-specific knowledgebase.Towards the identification of the allosteric Phe-binding site in phenylalanine hydroxylase.FALS mutations in Cu, Zn superoxide dismutase destabilize the dimer and increase dimer dissociation propensity: a large-scale thermodynamic analysis.Strategies Used in Production of Phenylalanine-Free Foods for PKU Management
P2860
Q27015749-31A1C06A-E467-45A2-A696-F756D1FAE655Q28363923-43D34868-F98F-49A1-8875-D1B0FD7BDC0CQ30403510-C0F03F36-E3DB-4C8D-B313-3E2E39BD1822Q30407525-7C7994B2-EB74-470D-9CCF-739AA3C2AA33Q31944578-403E208A-B04C-440B-8F88-4DFE98EA770CQ33711123-FE841DED-F844-4143-9DF4-1D76CB538EA8Q34087990-A0E38615-CAD7-4593-9DF4-FB0C38CA6270Q34325086-CCA3BE85-4204-4C5F-A3A6-07344426B0A8Q34556955-97C66D3E-77D7-4A8D-91E4-463936B1A5D6Q34787712-13B7A615-2C22-483A-9EF4-F20972301E21Q35747905-111AC19E-7988-431E-9D38-DC8B6F80D97AQ36001621-1F124B43-ECBC-441B-A47F-19A4D42337D2Q36658925-87489977-7397-4100-BB1D-79A2FE0ADFCDQ36744649-D76E2AD9-8871-474E-BFDD-9B7BE52D6874Q36966120-ED4E0994-1455-4345-BF89-FD32F4166B79Q37071145-BB9F1B12-F7AB-4B26-AD7D-F4347FBE3B63Q37695699-72E6BD78-0581-402B-A61A-9A0CE2E6F63BQ38096351-81A067F6-817C-4BE3-A158-256567310073Q38751728-14679FCE-84EE-45B3-8F6D-4320796ED9F9Q40661598-A0B9DC8B-BBBA-4EFC-BDF9-86AFE42358B8Q41271157-20BB2B33-1F33-43DF-88F2-EB8FD645B3CBQ41875226-5D2FF2B0-AF01-4672-9596-5471A7DF0859Q42036836-8CC34B38-138C-4E41-983C-F12228976B80Q42628666-38C8E255-98D7-4089-BB0B-884E1726B0E4Q44069010-F056ED64-A5BE-4DC0-A8BE-10D8911721E0Q44107294-A2DE7A1D-8FD1-4088-A09B-F40F759751AAQ44439495-3828F844-BC90-47B9-BC31-4580169C92BEQ44498107-AEF9C70A-2946-4BB9-A2CF-EF8FE6751630Q44670798-DE821C15-7A61-4702-BBBC-7AFA751D8987Q44730873-59B81D49-7D18-4173-9D66-1B2277ABC83DQ44940206-6B4BDA0B-2A81-4C8D-B724-ED753C3ACD58Q46374964-B52A6ED8-35AE-4D2B-9316-24BC76CBC4D4Q48211875-A1854841-35D3-4455-8DD4-14226955CE7CQ52131583-38C06379-EF40-469A-9FA7-B54D0805F98AQ52908855-1C22D146-323F-4075-B2A3-0B719CF854A0Q53877582-34DD423A-F7EA-4F5E-9E25-EA40F9AF9050Q57984523-F3269322-2792-4036-8904-A5B97CB78C5C
P2860
description
1999 nî lūn-bûn
@nan
1999 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
The structural basis of phenylketonuria.
@ast
The structural basis of phenylketonuria.
@en
type
label
The structural basis of phenylketonuria.
@ast
The structural basis of phenylketonuria.
@en
prefLabel
The structural basis of phenylketonuria.
@ast
The structural basis of phenylketonuria.
@en
P356
P1476
The structural basis of phenylketonuria.
@en
P2093
Erlandsen H
Stevens RC
P304
P356
10.1006/MGME.1999.2922
P577
1999-10-01T00:00:00Z