Ramzi Khalil

2 Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction 45 43. Taranta, A. et al.Distribution of cystinosin-LKG in human tissues. Histochem. Cell. Biol.138, 351–363 (2012). 44. Cherqui, S.et al.Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol. Cell. Biol. 22, 7622–7632 (2002). 45. Wilmer, M. J. et al. Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells. Biochim. Biophys. Acta.1812, 643-651. 46. Park, M. A., Pejovic, V., Kerisit, K. G., Junius, S. &Thoene, J. G. Increased Apoptosis in Cystinotic Fibroblasts and Renal Proximal Tubule Epithelial Cells Results from Cysteinylation of Protein Kinase Cδ. J. Am. Soc. Nephrol.17, 3167–3175 (2006). 47. Huang, J. et al. A zebrafish model of conditional targeted podocyte ablation and regeneration. Kidney. Int.83,1193-1200 (2013). 48. Marzolo, M. P. &Farfán, P. New insights into the roles of megalin/LRP2 and the regulation of its functional expression. Biol. Res.44, 89-105 (2011). 49. Woolf, A. S., Winyard, P. J. D., Hermanns, M. H. & Welham, S. J. M. Maldevelopment of the human kidney and lower urinary tract. An overview. in: Kidney From Normal Development to Congenital Disease, (eds. Vize, P. D., Woolf, A. S. & Bard, J. B. L.) 377–393, (Elsevier Inc., 2003). 50. Mahoney, C. P&Striker, G. E. Early development of the renal lesions in infantile cystinosis. Pediatr. Nephrol.15, 50-56 (2000). 51. Simpson, J.et al. Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse. Mol. Vis.17,2212-2220 (2011). 52. Rega, L. R.et al.Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells. Kidney. Int.89, 862–873 (2016). 53. Besouw, M., Blom, H., Tangerman, A., de Graaf-Hess, A.&Levtchenko, E.The origin of halitosis in cystinotic patients due to cysteamine treatment. Mol. Genet. Metab.91, 228–233 (2007). 54. 54. Dohil, R.et al. Understanding intestinal cysteamine bitartrate absorption. J. Pediatr.148, 764–769 (2006). 55. Ariceta, G.et al.Cysteamine (Cystagon®) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults. Nephrol. Dial. Transplant.30, 475–480 (2015). 56. Frost, L., Suryadevara, P., Cannell, S. J., Groundwater, P. W., Hambleton, P. A. &Anderson, R. J.Synthesis of diacylated γ-glutamyl-cysteamine prodrugs, and in vitro evaluation of their cytotoxicity and intracellular delivery of cysteamine. Eur. J. Med. Chem.109, 206–215 (2016). 57. Omran, Z., Moloney, K. A., Benylles, A., Kay, G., Knott, R. M.&Cairns, D.Synthesis and in vitro evaluation of novel pro-drugs for the treatment of nephropathic cystinosis. Bioorg. Med. Chem.19, 3492–3496 (2011). 58. Harper, C. & Lawrence, C. The Laboratory Zebrafish (Laboratory Animal Pocket Reference). Eugene, OR: CRC Press (2010). 59. Verleyen, D., Luyten, F. P.&Tylzanowski, P.Orphan G-protein coupled receptor 22 (Gpr22) regulates cilia length and structure in the zebrafish Kupffer’s vesicle. PLoS One.9, e110484 (2014). 60. de Graaf-Hess, A., Trijbels, F.&Blom, H. New method for determining cystine in leukocytes and fibroblasts. Clin. Chem.45, 2224–2228 (1999). 61. Kimmel, C. B., Ballard, W. W., Kimmel, S. R., Ullmann, B.&Schilling, T. F.Stages of embryonic development of the zebrafish. Dev. Dyn.203, 253–310 (1995). 62. Orellana-Paucar, A. M.et al.Anticonvulsant activity of bisabolene sesquiterpenoids of Curcuma longa in zebrafish and mouse seizure models. Epilepsy. behav.24, 14–22 (2012). 63. Abramson, J. H. WINPEPI updated: computer programs for epidemiologists, and their teaching potential. Epidemiol. Perspect. Innov.8, 1 (2011).

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