ArticleJCI insight2021
Hematologic and systemic metabolic alterations due to Mediterranean class II G6PD deficiency in mice.
Article in JCI insight, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 33 citations in OpenAlex.
- Glucose-6-Phosphate Dehydrogenase Deficiency Reprograms Macrophage Metabolism in Hyperlipidemia.Blood red cells & iron · 2026Article
- The Reductive Stress Nexus: Integrated Pathways of Metabolic Dysregulation, Senescence and Blood-Brain Barrier Failure in Neurodegenerative Disease and Brain Aging.Cell biochemistry and biophysics · 2026Review
- Precise correction of G6PD Viangchan mutation in iPSCs by prime editing strategy.Scientific reports · 2025Article
- Red blood cell metabolism: a window on systems health towards clinical metabolomics.Current opinion in hematology · 2025Review
- Increased exercise tolerance in humanized G6PD-deficient mice.Blood advances · 2025Article
- In defence of ferroptosis.Signal transduction and targeted therapy · 2025Review
- Clinical associations and potential cellular mechanisms linking G6PD deficiency and atherosclerotic cardiovascular disease.npj metabolic health and disease · 2025Review
- Interplay Between Metabolic Pathways and Increased Oxidative Stress in Human Red Blood Cells.Cells · 2024Review
- Primaquine-5,6-Orthoquinone Is Directly Hemolytic to Older G6PD Deficient RBCs in a Humanized Mouse Model.The Journal of pharmacology and experimental therapeutics · 2024Article
- The Role of Ergothioneine in Red Blood Cell Biology: A Review and Perspective.Antioxidants (Basel, Switzerland) · 2024Review
- Article
- The clinical relevance of heme detoxification by the macrophage heme oxygenase system.Frontiers in immunology · 2024Review
- Modeling Red Blood Cell Metabolism in the Omics Era.Metabolites · 2023Review
- The pentose phosphate pathway in health and disease.Nature metabolism · 2023Review
- In vivo evaluation of the effect of sickle cell hemoglobin S, C and therapeutic transfusion on erythrocyte metabolism and cardiorenal dysfunction.American journal of hematology · 2023Article
- Red Blood Cell Metabolism In Vivo and In Vitro.Metabolites · 2023Review
- Red Blood Cell Omics and Machine Learning in Transfusion Medicine: Singularity Is Near.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2023Review
- Benefits of hypoxic storage of red blood cells.Blood transfusion = Trasfusione del sangue · 2023Article
- A phase I/Ib trial and biological correlate analysis of neoadjuvant SBRT with single-dose durvalumab in HPV-unrelated locally advanced HNSCC.Nature cancer · 2022Article
- Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
Abstract
Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is the single most common enzymopathy, present in approximately 400 million humans (approximately 5%). Its prevalence is hypothesized to be due to conferring resistance to malaria. However, G6PD deficiency also results in hemolytic sequelae from oxidant stress. Moreover, G6PD deficiency is associated with kidney disease, diabetes, pulmonary hypertension, immunological defects, and neurodegenerative diseases. To date, the only available mouse models have decreased levels of WT stable G6PD caused by promoter mutations. However, human G6PD mutations are missense mutations that result in decreased enzymatic stability. As such, this results in very low activity in red blood cells (RBCs) that cannot synthesize new protein. To generate a more accurate model, the human sequence for a severe form of G6PD deficiency, Med(-), was knocked into the murine G6PD locus. As predicted, G6PD levels were extremely low in RBCs, and deficient mice had increased hemolytic sequelae to oxidant stress. Nonerythroid organs had metabolic changes consistent with mild G6PD deficiency, consistent with what has been observed in humans. Juxtaposition of G6PD-deficient and WT mice revealed altered lipid metabolism in multiple organ systems. Together, these findings both establish a mouse model of G6PD deficiency that more accurately reflects human G6PD deficiency and advance our basic understanding of altered metabolism in this setting.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.