List of works - Angel L. Pey

A mechanism for cancer-associated inactivation of NQO1 due to P187S and its reactivation by the consensus mutation H80R.

scientific article

Anabolic function of phenylalanine hydroxylase in Caenorhabditis elegans

scientific article published on 6 May 2008

BANK1 interacts with TRAF6 and MyD88 in innate immune signaling in B cells

scientific article published on 26 June 2019

Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients

scientific article

Caenorhabditis elegans AGXT-1 is a mitochondrial and temperature-adapted ortholog of peroxisomal human AGT1: New insights into between-species divergence in glyoxylate metabolism

scientific article published on 11 May 2016

Conformational dynamics is key to understanding loss-of-function of NQO1 cancer-associated polymorphisms and its correction by pharmacological ligands

scientific article published on 3 February 2016

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

scholarly article

Correction to Conformational Properties of Nine Purified Cystathionine β-Synthase Mutants

scientific article published on 27 June 2012

Divergence in enzyme regulation between Caenorhabditis elegans and human tyrosine hydroxylase, the key enzyme in the synthesis of dopamine

scientific article

Domain organization, catalysis and regulation of eukaryotic cystathionine beta-synthases

scientific article

Editorial (Thematic Issue: Targeting Conformational Diseases with Natural and Pharmacological Chaperones)

scientific article published on 01 January 2016

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

scientific article published on 18 May 2010

Effects of prolonged stanozolol treatment on antioxidant enzyme activities, oxidative stress markers, and heat shock protein HSP72 levels in rat liver.

scientific article published in December 2003

Engineering proteins with tunable thermodynamic and kinetic stabilities.

scientific article published in April 2008

Enhanced vulnerability of human proteins towards disease-associated inactivation through divergent evolution

scientific article

Erratum: Conformational dynamics is key to understanding loss-of-function of NQO1 cancer-associated polymorphisms and its correction by pharmacological ligands.

scientific article published on 4 March 2016

Evolutionary Divergent Suppressor Mutations in Conformational Diseases

article

FAD binding overcomes defects in activity and stability displayed by cancer-associated variants of human NQO1.

scientific article published on 29 August 2014

Galactokinase promiscuity: a question of flexibility?

scientific article published on February 2016

Human cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM

scientific article

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

scientific article published on August 2008

Improving the Activity and Stability of Human Galactokinase for Therapeutic and Biotechnological Applications.

scientific article

Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses

scientific article published on 17 May 2014

Intrinsically disordered chromatin protein NUPR1 binds to the C-terminal region of Polycomb RING1B.

scientific article published on 18 July 2017

Iron binding effects on the kinetic stability and unfolding energetics of a thermophilic phenylalanine hydroxylase from Chloroflexus aurantiacus

scientific article published on 20 January 2009

Kinetic stability of cystathionine beta-synthase can be modulated by structural analogs of S-adenosylmethionine: Potential approach to pharmacological chaperone therapy for homocystinuria

scientific article published on 20 January 2016

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

scientific article published in November 2004

Modulation of buried ionizable groups in proteins with engineered surface charge.

scientific article

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

scientific article

Molecular recognition of PTS-1 cargo proteins by Pex5p: implications for protein mistargeting in primary hyperoxaluria.

scientific article

NAD(P)H quinone oxidoreductase (NQO1): an enzyme which needs just enough mobility, in just the right places

article

Natural (and Unnatural) Small Molecules as Pharmacological Chaperones and Inhibitors in Cancer.

scientific article

Natural Small Molecules as Stabilizers and Activators of Cancer-Associated NQO1 Polymorphisms

scientific article published on January 2016

Naturally-Occurring Rare Mutations Cause Mild to Catastrophic Effects in the Multifunctional and Cancer-Associated NQO1 Protein

scientific article published on 03 November 2020

Oligomeric status of human cystathionine beta-synthase modulates AdoMet binding.

scientific article published on 14 November 2016

Phenylalanine hydroxylase expression in primary rat hepatocytes is modulated by oxygen concentration

scientific article published on 25 June 2010

Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.

scientific article published on April 2003

Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria

scientific article published on 10 November 2017

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

scientific article published on 2 October 2007

Primary hyperoxalurias: disorders of glyoxylate detoxification

scientific article

Protein Stability, Folding and Misfolding in Human PGK1 Deficiency.

scientific article published on 18 December 2013

Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I.

scientific article published on 16 July 2013

Protein homeostasis disorders of key enzymes of amino acids metabolism: mutation-induced protein kinetic destabilization and new therapeutic strategies.

scientific article

Rescuing proteins of low kinetic stability by chaperones and natural ligands phenylketonuria, a case study

scientific article published in January 2008

Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with primary hyperoxaluria ⬇️

scientific article published on November 20, 2010

Site-to-site interdomain communication may mediate different loss-of-function mechanisms in a cancer-associated NQO1 polymorphism.

scientific article published on 14 March 2017

Specific interaction of the diastereomers 7(R)- and 7(S)-tetrahydrobiopterin with phenylalanine hydroxylase: implications for understanding primapterinuria and vitiligo

article

Structural Basis of the Oncogenic Interaction of Phosphatase PRL-1 with the Magnesium Transporter CNNM2.

scientific article

Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency.

scientific article

Superstoichiometric binding of L-Phe to phenylalanine hydroxylase from Caenorhabditis elegans: evolutionary implications

scientific article published on 18 May 2010

Tetrahydrobiopterin for patients with phenylketonuria

scientific article published in The Lancet

The Catalytic Cycle of the Antioxidant and Cancer-Associated Human NQO1 Enzyme: Hydride Transfer, Conformational Dynamics and Functional Cooperativity

scientific article published on 20 August 2020

The Role of Protein Denaturation Energetics and Molecular Chaperones in the Aggregation and Mistargeting of Mutants Causing Primary Hyperoxaluria Type I

scientific article

The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: an isothermal titration calorimetry study

scientific article published on 3 June 2005

The chondroitin sulfate/dermatan sulfate 4-O-endosulfatase from marine bacterium Vibrio sp FC509 is a dimeric species: Biophysical characterization of an endosulfatase

scientific article

The consensus-based approach for gene/enzyme replacement therapies and crystallization strategies: the case of human alanine-glyoxylate aminotransferase

scientific article

The interplay between protein stability and dynamics in conformational diseases: The case of hPGK1 deficiency ⬇️

scientific article published on August 1, 2013

The lower limits for protein stability and foldability in primary hyperoxaluria type I

scientific article published on 18 October 2014

The metastability of human UDP-galactose 4'-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding

scientific article

The regulatory subunit of PKA-I remains partially structured and undergoes β-aggregation upon thermal denaturation

scientific article

The role of surface electrostatics on the stability, function and regulation of human cystathionine β-synthase, a complex multidomain and oligomeric protein

scientific article

Thermodynamic characterization of the binding of tetrahydropterins to phenylalanine hydroxylase

scientific article published in October 2004

Thermodynamics of cooperative binding of FAD to human NQO1: Implications to understanding cofactor-dependent function and stability of the flavoproteome

scientific article published on 31 October 2017

Thermoplasma acidophilum Cdc6 protein stimulates MCM helicase activity by regulating its ATPase activity

scientific article published on 30 August 2008

Towards Accurate Genotype-Phenotype Correlations in the CYP2D6 Gene

scientific article published on 08 October 2020

pH-dependent relationship between thermodynamic and kinetic stability in the denaturation of human phosphoglycerate kinase 1.

scientific article published on 8 April 2014

List of works by Angel L. Pey

A mechanism for cancer-associated inactivation of NQO1 due to P187S and its reactivation by the consensus mutation H80R.

Anabolic function of phenylalanine hydroxylase in Caenorhabditis elegans

BANK1 interacts with TRAF6 and MyD88 in innate immune signaling in B cells

Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients

Caenorhabditis elegans AGXT-1 is a mitochondrial and temperature-adapted ortholog of peroxisomal human AGT1: New insights into between-species divergence in glyoxylate metabolism

Conformational dynamics is key to understanding loss-of-function of NQO1 cancer-associated polymorphisms and its correction by pharmacological ligands

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

Correction to Conformational Properties of Nine Purified Cystathionine β-Synthase Mutants

Divergence in enzyme regulation between Caenorhabditis elegans and human tyrosine hydroxylase, the key enzyme in the synthesis of dopamine

Domain organization, catalysis and regulation of eukaryotic cystathionine beta-synthases

Editorial (Thematic Issue: Targeting Conformational Diseases with Natural and Pharmacological Chaperones)

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

Effects of prolonged stanozolol treatment on antioxidant enzyme activities, oxidative stress markers, and heat shock protein HSP72 levels in rat liver.

Engineering proteins with tunable thermodynamic and kinetic stabilities.

Enhanced vulnerability of human proteins towards disease-associated inactivation through divergent evolution

Erratum: Conformational dynamics is key to understanding loss-of-function of NQO1 cancer-associated polymorphisms and its correction by pharmacological ligands.

Evolutionary Divergent Suppressor Mutations in Conformational Diseases

FAD binding overcomes defects in activity and stability displayed by cancer-associated variants of human NQO1.

Galactokinase promiscuity: a question of flexibility?

Human cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

Improving the Activity and Stability of Human Galactokinase for Therapeutic and Biotechnological Applications.

Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses

Intrinsically disordered chromatin protein NUPR1 binds to the C-terminal region of Polycomb RING1B.

Iron binding effects on the kinetic stability and unfolding energetics of a thermophilic phenylalanine hydroxylase from Chloroflexus aurantiacus

Kinetic stability of cystathionine beta-synthase can be modulated by structural analogs of S-adenosylmethionine: Potential approach to pharmacological chaperone therapy for homocystinuria

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

Modulation of buried ionizable groups in proteins with engineered surface charge.

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

Molecular recognition of PTS-1 cargo proteins by Pex5p: implications for protein mistargeting in primary hyperoxaluria.

NAD(P)H quinone oxidoreductase (NQO1): an enzyme which needs just enough mobility, in just the right places

Natural (and Unnatural) Small Molecules as Pharmacological Chaperones and Inhibitors in Cancer.

Natural Small Molecules as Stabilizers and Activators of Cancer-Associated NQO1 Polymorphisms

Naturally-Occurring Rare Mutations Cause Mild to Catastrophic Effects in the Multifunctional and Cancer-Associated NQO1 Protein

Oligomeric status of human cystathionine beta-synthase modulates AdoMet binding.

Phenylalanine hydroxylase expression in primary rat hepatocytes is modulated by oxygen concentration

Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.

Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria

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

Primary hyperoxalurias: disorders of glyoxylate detoxification

Protein Stability, Folding and Misfolding in Human PGK1 Deficiency.

Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I.

Protein homeostasis disorders of key enzymes of amino acids metabolism: mutation-induced protein kinetic destabilization and new therapeutic strategies.

Rescuing proteins of low kinetic stability by chaperones and natural ligands phenylketonuria, a case study

Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with primary hyperoxaluria ⬇️

Site-to-site interdomain communication may mediate different loss-of-function mechanisms in a cancer-associated NQO1 polymorphism.

Specific interaction of the diastereomers 7(R)- and 7(S)-tetrahydrobiopterin with phenylalanine hydroxylase: implications for understanding primapterinuria and vitiligo

Structural Basis of the Oncogenic Interaction of Phosphatase PRL-1 with the Magnesium Transporter CNNM2.

Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency.

Superstoichiometric binding of L-Phe to phenylalanine hydroxylase from Caenorhabditis elegans: evolutionary implications

Tetrahydrobiopterin for patients with phenylketonuria

The Catalytic Cycle of the Antioxidant and Cancer-Associated Human NQO1 Enzyme: Hydride Transfer, Conformational Dynamics and Functional Cooperativity

The Role of Protein Denaturation Energetics and Molecular Chaperones in the Aggregation and Mistargeting of Mutants Causing Primary Hyperoxaluria Type I

The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: an isothermal titration calorimetry study

The chondroitin sulfate/dermatan sulfate 4-O-endosulfatase from marine bacterium Vibrio sp FC509 is a dimeric species: Biophysical characterization of an endosulfatase

The consensus-based approach for gene/enzyme replacement therapies and crystallization strategies: the case of human alanine-glyoxylate aminotransferase

The interplay between protein stability and dynamics in conformational diseases: The case of hPGK1 deficiency ⬇️

The lower limits for protein stability and foldability in primary hyperoxaluria type I

The metastability of human UDP-galactose 4'-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding

The regulatory subunit of PKA-I remains partially structured and undergoes β-aggregation upon thermal denaturation

The role of surface electrostatics on the stability, function and regulation of human cystathionine β-synthase, a complex multidomain and oligomeric protein

Thermodynamic characterization of the binding of tetrahydropterins to phenylalanine hydroxylase

Thermodynamics of cooperative binding of FAD to human NQO1: Implications to understanding cofactor-dependent function and stability of the flavoproteome

Thermoplasma acidophilum Cdc6 protein stimulates MCM helicase activity by regulating its ATPase activity

Towards Accurate Genotype-Phenotype Correlations in the CYP2D6 Gene

pH-dependent relationship between thermodynamic and kinetic stability in the denaturation of human phosphoglycerate kinase 1.