ArticleScientific reports2018
Clinically relevant mutations in the ABCG2 transporter uncovered by genetic analysis linked to erythrocyte membrane protein expression.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 23 citations in OpenAlex.
- ABCG2 transporter: Structural and functional associations with gout (Review).International journal of molecular medicine · 2026Review
- Live Visualization of Endoplasmic Reticulum Redox Potential in Zebrafish Embryos Reveals Region-Specific Heterogeneity.Biomedicines · 2026Article
- Potential associations of selected polymorphic genetic variants with COVID-19 disease susceptibility and severity.PloS one · 2025Article
- Genetic polymorphisms and decreased protein expression of ABCG2 urate transporters are associated with susceptibility to gout, disease severity and renal-overload hyperuricemia.Clinical and experimental medicine · 2023Article
- Blood ACE Phenotyping for Personalized Medicine: Revelation of Patients with Conformationally Altered ACE.Biomedicines · 2023Article
- A Pan-Cancer Landscape of ABCG2 across Human Cancers: Friend or Foe?International journal of molecular sciences · 2022Article
- Selective Fluorescent Probes for High-Throughput Functional Diagnostics of the Human Multidrug Transporter P-Glycoprotein (ABCB1).International journal of molecular sciences · 2022Article
- Multidrug efflux transporter ABCG2: expression and regulation.Cellular and molecular life sciences : CMLS · 2021Review
- Medically Important Alterations in Transport Function and Trafficking of ABCG2.International journal of molecular sciences · 2021Review
- Alterations in erythrocyte membrane transporter expression levels in type 2 diabetic patients.Scientific reports · 2021Observational
- Pharmacogenomics with red cells: a model to study protein variants of drug transporter genes.Vox sanguinis · 2021Review
- Article
- Identification of Specific Trafficking Defects of Naturally Occurring Variants of the Human ABCG2 Transporter.Frontiers in cell and developmental biology · 2021Article
- BMS-599626, a Highly Selective Pan-HER Kinase Inhibitor, Antagonizes ABCG2-Mediated Drug Resistance.Cancers · 2020Article
- Cellular expression and function of naturally occurring variants of the human ABCG2 multidrug transporter.Cellular and molecular life sciences : CMLS · 2020Article
- Cellular Processing of the ABCG2 Transporter-Potential Effects on Gout and Drug Metabolism.Cells · 2019Review
- Article
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Authors and funding
11 authors at 4 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
The ABCG2 membrane protein is a key xeno- and endobiotic transporter, modulating the absorption and metabolism of pharmacological agents and causing multidrug resistance in cancer. ABCG2 is also involved in uric acid elimination and its impaired function is causative in gout. Analysis of ABCG2 expression in the erythrocyte membranes of healthy volunteers and gout patients showed an enrichment of lower expression levels in the patients. By genetic screening based on protein expression, we found a relatively frequent, novel ABCG2 mutation (ABCG2-M71V), which, according to cellular expression studies, causes reduced protein expression, although with preserved transporter capability. Molecular dynamics simulations indicated a stumbled dynamics of the mutant protein, while ABCG2-M71V expression in vitro could be corrected by therapeutically relevant small molecules. These results suggest that personalized medicine should consider this newly discovered ABCG2 mutation, and genetic analysis linked to protein expression provides a new tool to uncover clinically important mutations in membrane proteins.
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