ArticleHuman molecular genetics2017
A Drosophila model system to assess the function of human monogenic podocyte mutations that cause nephrotic syndrome.
Article in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 43 citations in OpenAlex.
- MCM2 germline variants predispose to familial papillary thyroid carcinoma due to genomic instability caused by MCM complex disruption.Oncogene · 2026Article
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- 'Fly'ing Toward New Drugs to Treat Podocytopathies.Journal of the American Society of Nephrology : JASN · 2025Article
- HIV-1 Nef synergizes with APOL1-G1 to induce nephrocyte cell death in HIV-related kidney diseases.Disease models & mechanisms · 2025Article
- Drosophila Nephrocyte as a Model for Studying Glomerular Basement Membrane Physiology.Journal of the American Society of Nephrology : JASN · 2024Article
- Actin Cytoskeleton and Integrin Components Are Interdependent for Slit Diaphragm Maintenance inCells · 2024Article
- Article
- Promoting mitochondrial dynamics by inhibiting the PINK1-PRKN pathway to relieve diabetic nephropathy.Disease models & mechanisms · 2024Article
- AbioRxiv : the preprint server for biology · 2024Article
- Insights into human kidney function from the study of Drosophila.Pediatric nephrology (Berlin, Germany) · 2023Review
- Model organisms for functional validation in genetic renal disease.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- Drosophila melanogaster: a simple genetic model of kidney structure, function and disease.Nature reviews. Nephrology · 2022Review
- UsingFrontiers in cell and developmental biology · 2022Review
- Rabphilin silencing causes dilated cardiomyopathy in a Drosophila model of nephrocyte damage.Scientific reports · 2021Article
- Slit diaphragm maintenance requires dynamic clathrin-mediated endocytosis facilitated by AP-2, Lap, Aux and Hsc70-4 in nephrocytes.Cell & bioscience · 2021Article
- Apical-basal polarity regulators are essential for slit diaphragm assembly and endocytosis in Drosophila nephrocytes.Cellular and molecular life sciences : CMLS · 2021Article
- Rabphilin involvement in filtration and molecular uptake inDisease models & mechanisms · 2020Article
- Using Genetic and Species Diversity to Tackle Kidney Disease.Trends in genetics : TIG · 2020Review
- Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders.Clinical journal of the American Society of Nephrology : CJASN · 2020Review
- Proteome Analysis of Isolated Podocytes Reveals Stress Responses in Glomerular Sclerosis.Journal of the American Society of Nephrology : JASN · 2020Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
Many genetic mutations have been identified as monogenic causes of nephrotic syndrome (NS), but important knowledge gaps exist in the roles of these genes in kidney cell biology and renal diseases. More animal models are needed to assess the functions of these genes in vivo, and to determine how they cause NS in a timely manner. Drosophila nephrocytes and human podocytes share striking similarities, but to what degree these known NS genes play conserved roles in nephrocytes remains unknown. Here we systematically studied 40 genes associated with NS, including 7 that have not previously been analysed for renal function in an animal model. We found that 85% of these genes are required for nephrocyte functions, suggesting that a majority of human genes known to be associated with NS play conserved roles in renal function from flies to humans. To investigate functional conservation in more detail, we focused on Cindr, the fly homolog of the human NS gene CD2AP. Silencing Cindr in nephrocytes led to dramatic nephrocyte functional impairment and shortened life span, as well as collapse of nephrocyte lacunar channels and effacement of nephrocyte slit diaphragms. These phenotypes could be rescued by expression of a wild-type human CD2AP gene, but not a mutant allele derived from a patient with CD2AP-associated NS. We conclude that the Drosophila nephrocyte can be used to elucidate clinically relevant molecular mechanisms underlying the pathogenesis of most monogenic forms of NS, and to efficiently generate personalized in vivo models of genetic renal diseases bearing patient-specific mutations.
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