ArticleScientific reports2017
Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 43 citations in OpenAlex.
- Yap1 regulates motility and vertebral development and prevents kyphoscoliosis in zebrafish.PLoS genetics · 2026Article
- A Refined Method for Micro-Scale Blood Cystine Measurement in Preclinical Cystinosis Models.International journal of molecular sciences · 2026Article
- Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism.Human molecular genetics · 2025Article
- Urinary metabolomics analysis of patients with renal tubular dysfunction after PCI surgery.International urology and nephrology · 2025Article
- Targeting oxidative stress-induced lipid peroxidation enhances podocyte function in cystinosis.Journal of translational medicine · 2025Article
- Transmembrane protein 14A protects glomerular filtration barrier integrity.Physiological reports · 2023Article
- Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis.Scientific reports · 2023Article
- Review
- Modeling Podocyte Ontogeny and Podocytopathies with the Zebrafish.Journal of developmental biology · 2023Review
- Programmed Cell Death in Cystinosis.Cells · 2022Review
- Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies.Cells · 2022Review
- Patients With Infantile Nephropathic Cystinosis in Germany and Austria: A Retrospective Cohort Study.Frontiers in medicine · 2022Article
- Review
- Fertility in Cystinosis.Cells · 2021Review
- Article
- Renal and Extra Renal Manifestations in Adult Zebrafish Model of Cystinosis.International journal of molecular sciences · 2021Article
- Cysteamine-bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis.EMBO molecular medicine · 2021Article
- Glomerular podocyte dysfunction in inherited renal tubular disease.World journal of pediatrics : WJP · 2021Review
- Cell-Based Phenotypic Drug Screening Identifies Luteolin as Candidate Therapeutic for Nephropathic Cystinosis.Journal of the American Society of Nephrology : JASN · 2020Article
- Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders.Clinical journal of the American Society of Nephrology : CJASN · 2020Review
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Authors and funding
14 authors at 6 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The human ubiquitous protein cystinosin is responsible for transporting the disulphide amino acid cystine from the lysosomal compartment into the cytosol. In humans, Pathogenic mutations of CTNS lead to defective cystinosin function, intralysosomal cystine accumulation and the development of cystinosis. Kidneys are initially affected with generalized proximal tubular dysfunction (renal Fanconi syndrome), then the disease rapidly affects glomeruli and progresses towards end stage renal failure and multiple organ dysfunction. Animal models of cystinosis are limited, with only a Ctns knockout mouse reported, showing cystine accumulation and late signs of tubular dysfunction but lacking the glomerular phenotype. We established and characterized a mutant zebrafish model with a homozygous nonsense mutation (c.706 C > T; p.Q236X) in exon 8 of ctns. Cystinotic mutant larvae showed cystine accumulation, delayed development, and signs of pronephric glomerular and tubular dysfunction mimicking the early phenotype of human cystinotic patients. Furthermore, cystinotic larvae showed a significantly increased rate of apoptosis that could be ameliorated with cysteamine, the human cystine depleting therapy. Our data demonstrate that, ctns gene is essential for zebrafish pronephric podocyte and proximal tubular function and that the ctns-mutant can be used for studying the disease pathogenic mechanisms and for testing novel therapies for cystinosis.
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