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NQO1: A target for the treatment of cancer and neurological diseases, and a model to understand loss of function disease mechanisms

Biochimica et biophysica acta. Proteins and proteomics, 2019-07, Vol.1867 (7-8), p.663-676

2019

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

Bioscience reports, 2019-01, Vol.39 (1)

2019

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Phenotypic Modulation of Cancer-Associated Antioxidant NQO1 Activity by Post-Translational Modifications and the Natural Diversity of the Human Genome

Antioxidants, 2023-02, Vol.12 (2), p.379

Pey, Angel L

2023

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Molecular Mechanisms, Genotype-Phenotype Correlations and Patient-Specific Treatments in Inherited Metabolic Diseases

Journal of personalized medicine, 2023-01, Vol.13 (1), p.117

Pey, Angel L

2023

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Targeting Cystathionine Beta-Synthase Misfolding in Homocystinuria by Small Ligands: State of the Art and Future Directions

Current drug targets, 2016-01, Vol.17 (13), p.1455

2016

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Phosphorylation of Thr9 Affects the Folding Landscape of the N-Terminal Segment of Human AGT Enhancing Protein Aggregation of Disease-Causing Mutants

Molecules (Basel, Switzerland), 2022-12, Vol.27 (24), p.8762

2022

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The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I

PloS one, 2013-08, Vol.8 (8), p.e71963-e71963

2013

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

Amino acids, 2013-12, Vol.45 (6), p.1331-1341

Pey, Angel L

2013

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

Biochemical journal, 2013-01, Vol.449 (1), p.109-121

2013

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Predicted Effects of Missense Mutations on Native-State Stability Account for Phenotypic Outcome in Phenylketonuria, a Paradigm of Misfolding Diseases

American journal of human genetics, 2007-11, Vol.81 (5), p.1006-1024

2007

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Loss of stability and unfolding cooperativity in hPGK1 upon gradual structural perturbation of its N-terminal domain hydrophobic core

Scientific reports, 2022-10, Vol.12 (1), p.17200-17200, Article 17200

2022

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

Human molecular genetics, 2016-06, Vol.25 (11), p.2234-2244

2016

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Modular droplet injector for sample conservation providing new structural insight for the conformational heterogeneity in the disease-associated NQO1 enzyme

Lab on a chip, 2023-06, Vol.23 (13), p.316-333

2023

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

Current drug targets, 2016-01, Vol.17 (13), p.1506

2016

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

Biochimica et biophysica acta. Proteins and proteomics, 2014-12, Vol.1844 (12), p.2355-2365

2014

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Towards Accurate Genotype–Phenotype Correlations in the CYP2D6 Gene

Journal of personalized medicine, 2020-10, Vol.10 (4), p.158

Pey, Angel

2020

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

PloS one, 2014-08, Vol.9 (8), p.e105290

2014

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

Antioxidants, 2020-08, Vol.9 (9), p.772

2020

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Galactokinase promiscuity: a question of flexibility?

Biochemical Society transactions, 2016-02, Vol.44 (1), p.116

2016

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

Biochemical journal, 2014-09, Vol.462 (3), p.453-463

2014

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Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

The Journal of clinical investigation, 2008-08, Vol.118 (8), p.2858-2867

2008

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Structural basis of the pleiotropic and specific phenotypic consequences of missense mutations in the multifunctional NAD(P)H:quinone oxidoreductase 1 and their pharmacological rescue

Redox biology, 2021-10, Vol.46, p.102112-102112, Article 102112

2021

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Protein Homeostasis Defects of Alanine-Glyoxylate Aminotransferase: New Therapeutic Strategies in Primary Hyperoxaluria Type I

BioMed research international, 2013-01, Vol.2013, p.687658-15

2013

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Biophysical and functional perturbation analyses at cancer-associated P187 and K240 sites of the multifunctional NADP(H):quinone oxidoreductase 1

International journal of biological macromolecules, 2018-10, Vol.118 (Pt B), p.1912-1923

Pey, Angel L.

2018

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Structural and Energetic Basis of Protein Kinetic Destabilization in Human Phosphoglycerate Kinase 1 Deficiency

Biochemistry (Easton), 2013-02, Vol.52 (7), p.1160-1170

2013

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NQO1: A target for the treatment of cancer and neurological diseases, and a model to understand loss of function disease mechanisms

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

Phenotypic Modulation of Cancer-Associated Antioxidant NQO1 Activity by Post-Translational Modifications and the Natural Diversity of the Human Genome

Molecular Mechanisms, Genotype-Phenotype Correlations and Patient-Specific Treatments in Inherited Metabolic Diseases

Targeting Cystathionine Beta-Synthase Misfolding in Homocystinuria by Small Ligands: State of the Art and Future Directions

Phosphorylation of Thr9 Affects the Folding Landscape of the N-Terminal Segment of Human AGT Enhancing Protein Aggregation of Disease-Causing Mutants

The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I

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

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

Predicted Effects of Missense Mutations on Native-State Stability Account for Phenotypic Outcome in Phenylketonuria, a Paradigm of Misfolding Diseases

Loss of stability and unfolding cooperativity in hPGK1 upon gradual structural perturbation of its N-terminal domain hydrophobic core

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

Modular droplet injector for sample conservation providing new structural insight for the conformational heterogeneity in the disease-associated NQO1 enzyme

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

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

Towards Accurate Genotype–Phenotype Correlations in the CYP2D6 Gene

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

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

Galactokinase promiscuity: a question of flexibility?

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

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

Structural basis of the pleiotropic and specific phenotypic consequences of missense mutations in the multifunctional NAD(P)H:quinone oxidoreductase 1 and their pharmacological rescue

Protein Homeostasis Defects of Alanine-Glyoxylate Aminotransferase: New Therapeutic Strategies in Primary Hyperoxaluria Type I

Biophysical and functional perturbation analyses at cancer-associated P187 and K240 sites of the multifunctional NADP(H):quinone oxidoreductase 1

Structural and Energetic Basis of Protein Kinetic Destabilization in Human Phosphoglycerate Kinase 1 Deficiency

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