TRANSLATIONAL PHYSIOLOGY Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome
نویسندگان
چکیده
Annalisa Vilasi,* Pedro R. Cutillas,* Anthony D. Maher,* Severine F. M. Zirah, Giovambattista Capasso, Anthony W. G. Norden, Elaine Holmes, Jeremy K. Nicholson, and Robert J. Unwin Ludwig Institute for Cancer Research and Department of Biochemistry and Molecular Biology and Centre for Nephrology and Department of Physiology, University College London, London; Department of Biomolecular Medicine, Division of Surgery, Oncology, Reproductive Biology, and Anaesthetics, Faculty of Medicine, Imperial College London, London; Clinical Biochemistry, Addenbrooke’s Hospital, Cambridge, United Kingdom; Chair of Nephrology, Second University of Naples, Naples; and Center of Mass Spectrometry, Proteomics, and Bioinformatics, Institute of Food Science, Consiglio Nazionale Delle Ricerche, Avellino, Italy
منابع مشابه
Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome.
The renal Fanconi syndrome is a defect of proximal tubular function causing aminoaciduria and low-molecular-weight proteinuria. Dent's disease and Lowe syndrome are defined X-linked forms of Fanconi syndrome; there is also an autosomal dominant idiopathic form (ADIF), phenotypically similar to Dent's disease though its gene defect is still unknown. To assess whether their respective gene produc...
متن کاملThe urinary proteome in Fanconi syndrome implies specificity in the reabsorption of proteins by renal proximal tubule cells.
Polypeptides present in the glomerular filtrate are almost completely reabsorbed in the first segment of the proximal tubule by receptor-mediated endocytosis; in renal Fanconi syndrome (FS), there is failure to reabsorb many of these polypeptides. We have compared the urinary proteomes in patients with Dent's disease (due to a CLC5 mutation), a form of FS, with normal subjects using three diffe...
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Background and Objective: Cystinosis is a rare inherited disease that leads to renal failure. Fanconi syndrome is the major renal involvement in cystinosis patients. Renal transplantation is the treatment of choice in cystinosis children with end-stage renal disease (ESRD). The study aimed to assess the outcome of renal transplantation in Iranian children with cystinosis. Methods: This...
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Pedro R. Cutillas, Robert J. Chalkley, Kirk C. Hansen, Rainer Cramer, Anthony G. W. Norden, Mike D. Waterfield, Alma L. Burlingame, and Robert J. Unwin Ludwig Institute for Cancer Research, London W1W 7BS; Department of Biochemistry and Molecular Biology and Centre for Nephrology and Department of Physiology, Royal Free and University College Medical School, University College London, London NW...
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Dent-Wrong disease, an X-linked recessive disorder of the proximal tubules, presents with hypercalciuria, nephrocalcinosis, nephrolithiasis, renal insufficiency, low-molecular-weight proteinuria, rickets and/or osteomalacia. Dent and Friedman initially characterized the disorder in 1964 following studies of two patients with rickets who presented with hypercalciuria, hyperphosphaturia, proteinu...
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