ArticleCell reports2017
Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants.
Article in Cell reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 2 of them syntheses that pooled it.
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Who cites it
31 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Quantification of glucose-6-phosphate dehydrogenase activity by spectrophotometry: A systematic review and meta-analysis.PLoS medicine · 2020Pooled it
- Prevalence, genetic variants and clinical implications of G-6-PD deficiency in Burkina Faso: a systematic review.BMC medical genetics · 2017Pooled it
- A live bacteria enzyme assay for identification of human disease mutations and drug screening.Nature biomedical engineering · 2025Article
- Spectrum of glucose-6-phosphate dehydrogenase (G6PD) mutations and trends in hemoglobin levels among adult dengue patients in Thailand.PloS one · 2025Article
- Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China.Frontiers in genetics · 2024Article
- Computational analysis of dimer G6PD structure to elucidate pathogenicity of G6PD variants.BioMedicine · 2024Article
- Acetylation-dependent coupling between G6PD activity and apoptotic signaling.Nature communications · 2023Article
- The pentose phosphate pathway in health and disease.Nature metabolism · 2023Review
- A mitotic NADPH upsurge promotes chromosome segregation and tumour progression in aneuploid cancer cells.Nature metabolism · 2023Article
- Mutation spectrum and enzyme profiling of G6PD deficiency in neonates of north India: a prospective study.Journal of genetics · 2023Article
- Targeting Apollo-NADPACS sensors · 2022Article
- Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer.PloS one · 2022Article
- Combined effects of double mutations on catalytic activity and structural stability contribute to clinical manifestations of glucose-6-phosphate dehydrogenase deficiency.Scientific reports · 2021Article
- Treatment strategies for glucose-6-phosphate dehydrogenase deficiency: past and future perspectives.Trends in pharmacological sciences · 2021Review
- Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening.Orphanet journal of rare diseases · 2021Article
- Integrative identification of the pathogenic role of a novel G6PD missense mutation c.697G>C.Annals of translational medicine · 2021Article
- Long-range structural defects by pathogenic mutations in most severe glucose-6-phosphate dehydrogenase deficiency.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Prevalence and Molecular Characterization of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in Females from Previously Malaria Endemic Regions in Northeastern Thailand and Identification of a Novel G6PD Variant.Mediterranean journal of hematology and infectious diseases · 2021Article
- Glucose-6-Phosphate Dehydrogenase Is Not Essential for K-Ras-Driven Tumor Growth or Metastasis.Cancer research · 2020Article
- A small molecule G6PD inhibitor reveals immune dependence on pentose phosphate pathway.Nature chemical biology · 2020Article
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Authors and funding
4 authors.
Funding
Abstract
G6PD deficiency, an enzymopathy affecting 7% of the world population, is caused by over 160 identified amino acid variants in glucose-6-phosphate dehydrogenase (G6PD). The clinical presentation of G6PD deficiency is diverse, likely due to the broad distribution of variants across the protein and the potential for multidimensional biochemical effects. In this study, we use bioinformatic and biochemical analyses to interpret the relationship between G6PD variants and their clinical phenotype. Using structural information and statistical analyses of known G6PD variants, we predict the molecular phenotype of five uncharacterized variants from a reference population database. Through multidimensional analysis of biochemical data, we demonstrate that the clinical phenotypes of G6PD variants are largely determined by a trade-off between protein stability and catalytic activity. This work expands the current understanding of the biochemical underpinnings of G6PD variant pathogenicity and suggests a promising avenue for correcting G6PD deficiency by targeting essential structural features of G6PD.
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