ArticleJournal of inherited metabolic disease2010
Insights into novel cellular injury mechanisms by gene expression profiling in nephropathic cystinosis.
Article in Journal of inherited metabolic disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 18 citations in OpenAlex.
- Cystinosin/Ers1 functions in redox homeostasis in the early secretory pathway.bioRxiv : the preprint server for biology · 2026Article
- Programmed Cell Death in Cystinosis.Cells · 2022Review
- Hormonal dysfunction in adult patients affected with inherited metabolic disorders.Journal of mother and child · 2020Review
- Cell-Based Phenotypic Drug Screening Identifies Luteolin as Candidate Therapeutic for Nephropathic Cystinosis.Journal of the American Society of Nephrology : JASN · 2020Article
- A breakthrough in readthrough? Could geneticin lead the way to effective treatment for cystinosis nonsense mutations?Pediatric nephrology (Berlin, Germany) · 2019Article
- Lysosomal cystine accumulation promotes mitochondrial depolarization and induction of redox-sensitive genes in human kidney proximal tubular cells.The Journal of physiology · 2016Article
- Disruption of a cystine transporter downregulates expression of genes involved in sulfur regulation and cellular respiration.Biology open · 2016Article
- Cystine accumulation attenuates insulin release from the pancreatic β-cell due to elevated oxidative stress and decreased ATP levels.The Journal of physiology · 2015Article
- Article
- Inhibition of intracellular clusterin attenuates cell death in nephropathic cystinosis.Journal of the American Society of Nephrology : JASN · 2015Article
- Different molecular mechanisms involved in spontaneous and oxidative stress-induced mitochondrial fragmentation in tripeptidyl peptidase-1 (TPP-1)-deficient fibroblasts.Bioscience reports · 2013Article
- p62/SQSTM1 prominently accumulates in renal proximal tubules in nephropathic cystinosis.Pediatric nephrology (Berlin, Germany) · 2012Article
- Article
- Endocrine manifestations related to inherited metabolic diseases in adults.Orphanet journal of rare diseases · 2012Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Nephropathic cystinosis is a rare, inherited metabolic disease caused by functional defects of cystinosin associated with mutations in the CTNS gene. The mechanisms underlying the phenotypic alterations associated with this disease are not well known. In this study, gene expression profiles in peripheral blood of nephropathic cystinosis patients (N = 7) were compared with controls (N = 7) using microarray technology. In unsupervised hierarchical clustering analysis, cystinosis samples co-clustered, and 1,604 genes were significantly differentially expressed between both groups. Gene ontology analysis revealed that differentially expressed genes in cystinosis were enriched in cell organelles such as mitochondria, lysosomes, and endoplasmic reticulum (p ≤ 0.030). The majority of the differentially regulated genes were involved in oxidative phosphorylation, apoptosis, mitochondrial dysfunction, endoplasmic reticulum stress, antigen processing and presentation, B-cell-receptor signaling, and oxidative stress (p ≤ 0.003). Validation of selected genes involved in apoptosis and oxidative phosphorylation was performed by quantitative real-time polymerase chain reaction (PCR). Electron microscopy and confocal imaging of cystinotic renal proximal tubular epithelial cells further confirmed anomalies in the cellular organelles and pathways identified by microarray analysis. Further analysis of these genes and pathways may offer critical insights into the clinical spectrum of cystinosis patients and ultimately lead to novel links for targeted therapy.
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