| 1 |
34952194 | Phenylalanine hydroxylase (PAH) plays a positive role during WSSV and Vibrio parahaemolyticus infection in Litopenaeus vannamei. | 2022 Jan |
1 |
| 2 |
35325557 | Evaluation of the Consumption of Fruits and Vegetables by Phenylketonurics in the Metabolic Control of Phenylalanine: An Integrative Review. | 2022 May |
6 |
| 3 |
35356682 | Development of an mRNA replacement therapy for phenylketonuria. | 2022 Jun 14 |
1 |
| 4 |
35449354 | Deubiquitinase USP19 enhances phenylalanine hydroxylase protein stability and its enzymatic activity. | 2022 Apr 21 |
2 |
| 5 |
35600090 | Lipid nanoparticle delivers phenylalanine ammonia lyase mRNA to the liver leading to catabolism and clearance of phenylalanine in a phenylketonuria mouse model. | 2022 Sep |
1 |
| 6 |
33221376 | Manipulation of a cation-π sandwich reveals conformational flexibility in phenylalanine hydroxylase. | 2021 Apr |
1 |
| 7 |
33465300 | Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses. | 2021 Mar |
1 |
| 8 |
33485250 | Adsorption of organic molecules on carbon surfaces: Experimental data and molecular dynamics simulation considering multiple protonation states. | 2021 May |
1 |
| 9 |
33819046 | Plasma Phospholipidomic Profile Differs between Children with Phenylketonuria and Healthy Children. | 2021 May 7 |
2 |
| 10 |
34057292 | Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria. | 2021 Sep |
1 |
| 11 |
34145024 | A phosphoproteomic approach reveals that PKD3 controls PKA-mediated glucose and tyrosine metabolism. | 2021 Aug |
1 |
| 12 |
34162223 | Dysregulated Phenylalanine Catabolism Plays a Key Role in the Trajectory of Cardiac Aging. | 2021 Aug 17 |
2 |
| 13 |
34207146 | Unravelling the Complex Denaturant and Thermal-Induced Unfolding Equilibria of Human Phenylalanine Hydroxylase. | 2021 Jun 18 |
2 |
| 14 |
34412683 | A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria. | 2021 Aug 19 |
4 |
| 15 |
34784942 | Italian national consensus statement on management and pharmacological treatment of phenylketonuria. | 2021 Nov 16 |
3 |
| 16 |
34819582 | Blood phenylalanine reduction reverses gene expression changes observed in a mouse model of phenylketonuria. | 2021 Nov 24 |
2 |
| 17 |
34900593 | Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier. | 2021 Dec |
1 |
| 18 |
35082602 | Engineering Organoids for in vitro Modeling of Phenylketonuria. | 2021 |
1 |
| 19 |
31883647 | 5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics. | 2020 Mar |
4 |
| 20 |
32106880 | Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation. | 2020 Feb 27 |
3 |
| 21 |
32217972 | Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802. | 2020 Apr |
1 |
| 22 |
32450880 | Saccadic reaction time and ocular findings in phenylketonuria. | 2020 May 25 |
1 |
| 23 |
32668217 | The Genetic Landscape and Epidemiology of Phenylketonuria. | 2020 Aug 6 |
1 |
| 24 |
32742934 | Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers. | 2020 Sep |
3 |
| 25 |
32883979 | Dietary intake and nutritional status of patients with phenylketonuria in Taiwan. | 2020 Sep 3 |
1 |
| 26 |
33101986 | Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance. | 2020 Dec |
3 |
| 27 |
33260674 | E3 Ubiquitin Ligase APC/CCdh1 Regulation of Phenylalanine Hydroxylase Stability and Function. | 2020 Nov 28 |
1 |
| 28 |
33335942 | Long-Term Metabolic Correction of Phenylketonuria by AAV-Delivered Phenylalanine Amino Lyase. | 2020 Dec 11 |
1 |
| 29 |
30504004 | Transient phenylketonuria in premature infants. | 2019 Mar |
2 |
| 30 |
30648773 | Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations. | 2019 Apr |
1 |
| 31 |
30674554 | The phenylketonuria-associated substitution R68S converts phenylalanine hydroxylase to a constitutively active enzyme but reduces its stability. | 2019 Mar 22 |
1 |
| 32 |
30864096 | Phenylketonuria: Current Treatments and Future Developments. | 2019 Apr |
1 |
| 33 |
30992364 | Tau repeat regions contain conserved histidine residues that modulate microtubule-binding in response to changes in pH. | 2019 May 31 |
1 |
| 34 |
31038957 | Uncovered Dynamic Coupling Resolves the Ambiguous Mechanism of Phenylalanine Hydroxylase Oxygen Binding. | 2019 May 30 |
4 |
| 35 |
31076506 | Biophysical characterization of full-length human phenylalanine hydroxylase provides a deeper understanding of its quaternary structure equilibrium. | 2019 Jun 28 |
2 |
| 36 |
31105574 | Propagation of Plasma L-Phenylalanine Concentration Fluctuations to the Neurovascular Unit in Phenylketonuria: An in silico Study. | 2019 |
1 |
| 37 |
31118288 | Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin. | 2019 Jun 4 |
2 |
| 38 |
31434173 | Catalytic Ability Improvement of Phenylalanine Hydroxylase from Chromobacterium violaceum by N-Terminal Truncation and Proline Introduction. | 2019 Sep 28 |
1 |
| 39 |
29454221 | 13C-phenylalanine breath test and serum biopterin in schizophrenia, bipolar disorder and major depressive disorder. | 2018 Apr |
2 |
| 40 |
29653686 | Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM). | 2018 May |
1 |
| 41 |
29777816 | Aptamer-based assay for monitoring genetic disorder phenylketonuria (PKU). | 2018 Sep |
1 |
| 42 |
29909188 | Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: A case report and literature review. | 2018 Aug |
3 |
| 43 |
30201326 | A bone mineralization defect in the Pahenu2 model of classical phenylketonuria involves compromised mesenchymal stem cell differentiation. | 2018 Nov |
1 |
| 44 |
30287685 | Simulations of the regulatory ACT domain of human phenylalanine hydroxylase (PAH) unveil its mechanism of phenylalanine binding. | 2018 Dec 21 |
10 |
| 45 |
30346142 | Phosphorylation of Phenylalanine Hydroxylase Increases the Rate Constant for Formation of the Activated Conformation of the Enzyme. | 2018 Nov 6 |
2 |
| 46 |
30578407 | Conformational selection turns on phenylalanine hydroxylase. | 2018 Dec 21 |
1 |
| 47 |
28174686 | PKU mutation p.G46S prevents the stereospecific binding of l-phenylalanine to the dimer of human phenylalanine hydroxylase regulatory domain. | 2017 Feb |
5 |
| 48 |
28182360 | Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations. | 2017 Feb 1 |
1 |
| 49 |
28389235 | DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia. | 2017 Aug |
2 |
| 50 |
28593914 | Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose. | 2017 Jul 26 |
1 |