Humanizing flies with transgenic nephrin.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 40543925.
- Also identified by DOI 10.1016/j.kint.2025.04.011.
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Abstract
Congenital nephrotic syndrome of the Finnish type is caused by pathogenic variants in NPHS1 encoding for nephrin. Assessing pathogenicity of genetic variants is notoriously difficult as suitable experimental models are lacking. In this issue of Kidney International, Wolff et al. report on an NPHS1 variant validation assay that is based on the formation of slit diaphragm-like structures by the overexpression of human nephrin in Drosophila nephrocytes.
Medical subject headings
- Membrane Proteins
- Nephrotic Syndrome
- Disease Models, Animal
- Drosophila melanogaster