Phenylalanine hydroxylase misfolding and pharmacological chaperones. (Q34556955)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23339306%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

review article

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title

Phenylalanine hydroxylase misfolding and pharmacological chaperones (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23339306%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

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3 August 2019

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28 September 2019

phenylalanine hydroxylase

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28 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23339306%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23339306%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Oscar Aubi

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22 February 2020

language of work or name

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1 January 2012

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Current Topics in Medicinal Chemistry

22 February 2020

published in

6 references

24 March 2019

22 April 2019

25 April 2019

3 August 2019

28 September 2019

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22 February 2020

volume

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22 February 2020

issue

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22 February 2020

page(s)

2534-2545

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Creative Commons Attribution 2.5 Generic

22 February 2020

5 references

24 March 2019

22 April 2019

25 April 2019

3 August 2019

on focus list of Wikimedia project

28 September 2019

ScienceSource

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cites work

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Phenylketonuria: a 21st century perspective

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Rescue of misfolded proteins and stabilization by small molecules.

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Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence

7 July 2018

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Tryptophan hydroxylase as novel target for the treatment of depressive disorders

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Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses.

7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system

7 July 2018

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7 July 2018

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Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases

7 July 2018

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7 July 2018

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7 July 2018

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Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease

7 July 2018

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7 July 2018

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The PAH gene, phenylketonuria, and a paradigm shift

7 July 2018

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Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine

7 July 2018

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7 July 2018

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7 July 2018

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Chemical chaperones reduce ER stress and restore glucose homeostasis in a mouse model of type 2 diabetes

7 July 2018

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7 July 2018

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7 July 2018

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Protein misfolding and human disease

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7 July 2018

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7 July 2018

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Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

7 July 2018

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Tetrahydrobiopterin binding to aromatic amino acid hydroxylases. Ligand recognition and specificity

7 July 2018

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7 July 2018

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Pharmacological chaperones: potential treatment for conformational diseases.

7 July 2018

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7 July 2018

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Therapeutic approaches to protein-misfolding diseases

7 July 2018

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Mechanism of aromatic amino acid hydroxylation

7 July 2018

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2.0A resolution crystal structures of the ternary complexes of human phenylalanine hydroxylase catalytic domain with tetrahydrobiopterin and 3-(2-thienyl)-L-alanine or L-norleucine...

7 July 2018

1 reference

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A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

7 July 2018

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Hit and lead generation: beyond high-throughput screening

7 July 2018

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How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression

7 July 2018

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7 July 2018

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Synthesis of serotonin by a second tryptophan hydroxylase isoform

7 July 2018

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Chemical chaperones: a pharmacological strategy for disorders of protein folding and trafficking

7 July 2018

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Substrate-induced conformational transition in human phenylalanine hydroxylase as studied by surface plasmon resonance analyses: the effect of terminal deletions, substrate analogues and phosphorylation

7 July 2018

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Structural Insight into the Aromatic Amino Acid Hydroxylases and Their Disease-Related Mutant Forms

7 July 2018

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7 July 2018

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Pharmacological chaperones: a new twist on receptor folding.

7 July 2018

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The aromatic amino acid hydroxylases.

7 July 2018

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Crystal structure and site-specific mutagenesis of pterin-bound human phenylalanine hydroxylase

7 July 2018

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The structural basis of the recognition of phenylalanine and pterin cofactors by phenylalanine hydroxylase: implications for the catalytic mechanism

7 July 2018

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The structural basis of phenylketonuria

7 July 2018

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Structural basis of autoregulation of phenylalanine hydroxylase

7 July 2018

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Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria

7 July 2018

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Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria

7 July 2018

1 reference

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Crystal structure of tyrosine hydroxylase at 2.3 Å and its implications for inherited neurodegenerative diseases

7 July 2018

1 reference

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The phenylalanine hydroxylating system.

7 July 2018

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PHD--an automatic mail server for protein secondary structure prediction

7 July 2018

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Coordinate regulation of tetrahydrobiopterin turnover and phenylalanine hydroxylase activity in rat liver cells

7 July 2018

1 reference

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Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency

7 July 2018

1 reference

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Impact of high-throughput screening in biomedical research

27 October 2018

1 reference

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Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation

27 October 2018

1 reference

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Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2.

27 October 2018

1 reference

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Modulation of the activity of newly synthesized human phenylalanine hydroxylase mutant proteins by low-molecular-weight compounds

27 October 2018

1 reference

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Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase

27 October 2018

1 reference

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Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664513

Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664513

Thermodynamic characterization of the binding of tetrahydropterins to phenylalanine hydroxylase

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664513

Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664513

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664513

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664513

Use of surface plasmon resonance for real-time measurements of the global conformational transition in human phenylalanine hydroxylase in response to substrate binding and catalytic activation

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664513

Glycerol increases the yield and activity of human phenylalanine hydroxylase mutant enzymes produced in a prokaryotic expression system.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664513

Tyrosine hydroxylase binds tetrahydrobiopterin cofactor with negative cooperativity, as shown by kinetic analyses and surface plasmon resonance detection.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664513

Selective autophagy: ubiquitin-mediated recognition and beyond

27 October 2018

1 reference

12 December 2020

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

12 December 2020

Analysis of Phenylalanine Hydroxylase Genotypes and Hyperphenylalaninemia Phenotypes Using L-[1-13C]Phenylalanine Oxidation Rates in Vivo: A Pilot Study1

1 reference

12 December 2020

1 reference

12 December 2020

Molecular mechanism for pterin-mediated inactivation of tyrosine hydroxylase: formation of insoluble aggregates of tyrosine hydroxylase

1 reference

12 December 2020

Inhibitor screening of pharmacological chaperones for lysosomal β-glucocerebrosidase by capillary electrophoresis

1 reference

12 December 2020

The mechanism of BH4-responsive hyperphenylalaninemia-As it occurs in the ENU1/2 genetic mouse model

1 reference

12 December 2020

10.2174/1568026611212220008

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23339306%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23339306%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

PubMed publication ID

23339306

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23339306%20AND%20SRC:MED&resulttype=core&format=json