ArticleAmerican journal of physiology. Renal physiology2016
Characterization and phosphoproteomic analysis of a human immortalized podocyte model of Fabry disease generated using CRISPR/Cas9 technology.
Article in American journal of physiology. Renal physiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 29 citations in OpenAlex.
- Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease.Renal failure · 2026Review
- Modeling Fabry nephropathy: insights from experimental systems towards precision nephrology.Disease models & mechanisms · 2026Review
- Modelling APOL1-mediated kidney inflammation and fibrosis using a partially reprogrammed urine-derived SIX2-positive renal progenitor cell line.Stem cell research & therapy · 2025Article
- Mechanisms and Therapeutic Perspectives of Podocyte Aging in Podocytopathies.International journal of molecular sciences · 2025Review
- CRISPR/Cas System: A Powerful Strategy to Improve Monogenic Human Diseases as Therapeutic Delivery; Current Applications and Challenges.Current gene therapy · 2025Review
- Article
- Megalin, cubilin, and Dab2 drive endocytic flux in kidney proximal tubule cells.Molecular biology of the cell · 2023Article
- Optimizing human α-galactosidase for treatment of Fabry disease.Scientific reports · 2023Article
- Article
- Reduced α-galactosidase A activity in zebrafish (Molecular genetics and metabolism reports · 2022Article
- Cubilin-, megalin-, and Dab2-dependent transcription revealed by CRISPR/Cas9 knockout in kidney proximal tubule cells.American journal of physiology. Renal physiology · 2022Article
- Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up.Journal of clinical medicine · 2021Review
- Article
- Lysosomal storage diseases: current therapies and future alternatives.Journal of molecular medicine (Berlin, Germany) · 2020Review
- Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model.Journal of the American Society of Nephrology : JASN · 2020Article
- Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy.International journal of molecular sciences · 2019Review
- Experimental Models to Study Podocyte Biology: Stock-Taking the Toolbox of Glomerular Research.Frontiers in pediatrics · 2018Review
- Using CRISPR/Cas9-Mediated GLA Gene Knockout as an In Vitro Drug Screening Model for Fabry Disease.International journal of molecular sciences · 2016Article
- The role of podocyte injury in the pathogenesis of Fabry disease nephropathy.Jornal brasileiro de nefrologiaReview
- Ion channels and pain in Fabry disease.Molecular painReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
Fabry nephropathy is a major cause of morbidity and premature death in patients with Fabry disease (FD), a rare X-linked lysosomal storage disorder. Gb3, the main substrate of α-galactosidase A (α-Gal A), progressively accumulates within cells in a variety of tissues. Establishment of cell models has been useful as a tool for testing hypotheses of disease pathogenesis. We applied CRISPR/Cas9 genome editing technology to the GLA gene to develop human kidney cell models of FD in human immortalized podocytes, which are the main affected renal cell type. Our podocytes lack detectable α-Gal A activity and have increased levels of Gb3. To explore different pathways that could have distinct patterns of activation under conditions of α-gal A deficiency, we used a high-throughput antibody array to perform phosphorylation profiling of CRISPR/Cas9-edited and control podocytes. Changes in both total protein levels and in phosphorylation status per site were observed. Analysis of our candidate proteins suggests that multiple signaling pathways are impaired in FD.
Indexed as
Identifiers
What OpenQuestion holds
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.