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

SK Beaver, N Mesa-Torres, AL Pey… - Biochimica et Biophysica …, 2019 - Elsevier
Abstract NAD (P) H quinone oxidoreductase 1 (NQO1) is a multi-functional protein that
catalyses the reduction of quinones (and other molecules), thus playing roles in xenobiotic …

Targeting HIF-1α function in cancer through the chaperone action of NQO1: implications of genetic diversity of NQO1

E Salido, DJ Timson, I Betancor-Fernández… - Journal of personalized …, 2022 - mdpi.com
HIF-1α is a master regulator of oxygen homeostasis involved in different stages of cancer
development. Thus, HIF-1α inhibition represents an interesting target for anti-cancer therapy …

[HTML][HTML] Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

M Quinodoz, VG Peter, K Cisarova… - The American Journal of …, 2022 - cell.com
We used a machine learning approach to analyze the within-gene distribution of missense
variants observed in hereditary conditions and cancer. When applied to 840 genes from the …

The catalytic cycle of the antioxidant and cancer-associated human NQO1 enzyme: Hydride transfer, conformational dynamics and functional cooperativity

E Anoz-Carbonell, DJ Timson, AL Pey, M Medina - Antioxidants, 2020 - mdpi.com
Human NQO1 [NAD (H): quinone oxidoreductase 1] is a multi-functional and stress-
inducible dimeric protein involved in the antioxidant defense, the activation of cancer …

Impact of NQO1 dysregulation in CNS disorders

L Yuhan, M Khaleghi Ghadiri, A Gorji - Journal of Translational Medicine, 2024 - Springer
Abstract NAD (P) H Quinone Dehydrogenase 1 (NQO1) plays a pivotal role in the regulation
of neuronal function and synaptic plasticity, cellular adaptation to oxidative stress …

Effect of naturally-occurring mutations on the stability and function of cancer-associated NQO1: Comparison of experiments and computation

JL Pacheco-Garcia, M Cagiada… - Frontiers in Molecular …, 2022 - frontiersin.org
Recent advances in DNA sequencing technologies are revealing a large individual
variability of the human genome. Our capacity to establish genotype-phenotype correlations …

Insights into the pathogenesis of primary hyperoxaluria type I from the structural dynamics of alanine: glyoxylate aminotransferase variants

P Vankova, JL Pacheco‐Garcia, DS Loginov… - FEBS …, 2024 - Wiley Online Library
Primary hyperoxaluria type I (PH1) is caused by deficient alanine: glyoxylate
aminotransferase (AGT) activity. PH1‐causing mutations in AGT lead to protein mistargeting …

A dynamic core in human NQO1 controls the functional and stability effects of ligand binding and their communication across the enzyme dimer

P Vankova, E Salido, DJ Timson, P Man, AL Pey - Biomolecules, 2019 - mdpi.com
Human NAD (P) H: quinone oxidoreductase 1 (NQO1) is a multi-functional protein whose
alteration is associated with cancer, Parkinson's and Alzheimer´ s diseases. NQO1 displays …

Biochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1

L Gatticchi, M Dindo, G Pampalone, C Conter… - Biochemical and …, 2023 - Elsevier
Abstract Primary Hyperoxaluria Type 1 (PH1) is a rare autosomal disease caused by
mutations in AGXT that lead to the deficiency of alanine: glyoxylate aminotransferase (AGT) …

Counterintuitive structural and functional effects due to naturally occurring mutations targeting the active site of the disease‐associated NQO1 enzyme

JL Pacheco‐García, E Anoz‐Carbonell… - The FEBS …, 2023 - Wiley Online Library
Our knowledge on the genetic diversity of the human genome is exponentially growing.
However, our capacity to establish genotype–phenotype correlations on a large scale …