{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T17:55:38Z","timestamp":1792000538473,"version":"4.4.0"},"reference-count":199,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2016,12,19]],"date-time":"2016-12-19T00:00:00Z","timestamp":1482105600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Rev Nephrol"],"published-print":{"date-parts":[[2017,2]]},"DOI":"10.1038\/nrneph.2016.182","type":"journal-article","created":{"date-parts":[[2016,12,19]],"date-time":"2016-12-19T05:27:56Z","timestamp":1482125276000},"page":"115-131","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":178,"title":["The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives"],"prefix":"10.1038","volume":"13","author":[{"given":"Stephanie","family":"Cherqui","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre J.","family":"Courtoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,12,19]]},"reference":[{"key":"BFnrneph2016182_CR1","first-page":"257","volume":"133","author":"G Fanconi","year":"1931","unstructured":"Fanconi, G. Die nicht diabetischen glykosurien und hyperglykamiendes altem kindes. Jahrbuch Kinderheilkunde 133, 257\u2013300 (1931).","journal-title":"Jahrbuch Kinderheilkunde"},{"key":"BFnrneph2016182_CR2","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1111\/j.1651-2227.1933.tb03611.x","volume":"16","author":"G De Toni","year":"1933","unstructured":"De Toni, G. Remarks on the relations between renal rickets (renal dwarfism) and renal diabetes. Acta Paediatr. 16, 479\u2013484 (1933).","journal-title":"Acta Paediatr."},{"key":"BFnrneph2016182_CR3","first-page":"597","volume":"37","author":"R Debre","year":"1934","unstructured":"Debre, R., Marie, J., Cleret, J. & Messimy, R. Rachitisme tardif coexistant avec une nephrite chronique et une glycosurie. Arch. Med. Enfants 37, 597\u2013606 (1934).","journal-title":"Arch. Med. Enfants"},{"key":"BFnrneph2016182_CR4","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1159\/000045518","volume":"83","author":"D Haffner","year":"1999","unstructured":"Haffner, D. et al. Long-term outcome of paediatric patients with hereditary tubular disorders. Nephron 83, 250\u2013260 (1999).","journal-title":"Nephron"},{"key":"BFnrneph2016182_CR5","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1056\/NEJMra020552","volume":"347","author":"WA Gahl","year":"2002","unstructured":"Gahl, W. A., Thoene, J. G. & Schneider, J. A. Cystinosis. N. Engl. J. Med. 347, 111\u2013121 (2002).","journal-title":"N. Engl. J. Med."},{"key":"BFnrneph2016182_CR6","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1186\/s13023-015-0307-9","volume":"10","author":"C Cohen","year":"2015","unstructured":"Cohen, C. et al. Excellent long-term outcome of renal transplantation in cystinosis patients. Orphanet J. Rare Diseases 10, 90 (2015).","journal-title":"Orphanet J. Rare Diseases"},{"key":"BFnrneph2016182_CR7","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1006\/mgme.2000.3062","volume":"71","author":"WA Gahl","year":"2000","unstructured":"Gahl, W. A., Kuehl, E. M., Iwata, F., Lindblad, A. & Kaiser-Kupfer, M. I. Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. Mol. Genet. Metab. 71, 100\u2013120 (2000).","journal-title":"Mol. Genet. Metab."},{"key":"BFnrneph2016182_CR8","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1038\/ki.2011.277","volume":"81","author":"A Brodin-Sartorius","year":"2012","unstructured":"Brodin-Sartorius, A. et al. Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults. Kidney Int. 81, 179\u2013189 (2012).","journal-title":"Kidney Int."},{"key":"BFnrneph2016182_CR9","doi-asserted-by":"publisher","first-page":"1192","DOI":"10.1016\/j.kint.2016.01.033","volume":"89","author":"CB Langman","year":"2016","unstructured":"Langman, C. B. et al. Controversies and research agenda in nephropathic cystinosis: conclusions from a \u201cKidney Disease: Improving Global Outcomes\u201d (KDIGO) Controversies Conference. Kidney Int. 89, 1192\u20131203 (2016).","journal-title":"Kidney Int."},{"key":"BFnrneph2016182_CR10","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1007\/s00467-007-0650-8","volume":"23","author":"G Nesterova","year":"2008","unstructured":"Nesterova, G. & Gahl, W. Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr. Nephrol. 23, 863\u2013878 (2008).","journal-title":"Pediatr. Nephrol."},{"key":"BFnrneph2016182_CR11","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1542\/peds.47.6.979","volume":"47","author":"H Goldman","year":"1971","unstructured":"Goldman, H., Scriver, C. R., Aaron, K., Delvin, E. & Canlas, Z. Adolescent cystinosis: comparisons with infantile and adult forms. Pediatrics 47, 979\u2013988 (1971).","journal-title":"Pediatrics"},{"key":"BFnrneph2016182_CR12","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1001\/jama.1957.02980040034009","volume":"164","author":"DG Cogan","year":"1957","unstructured":"Cogan, D. G., Kuwabara, T., Kinoshita, J., Sheehan, L. & Merola, L. Cystinosis in an adult. J. Am. Med. Assoc. 164, 394\u2013396 (1957).","journal-title":"J. Am. Med. Assoc."},{"key":"BFnrneph2016182_CR13","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1038\/ng0498-319","volume":"18","author":"M Town","year":"1998","unstructured":"Town, M. et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat. Genet. 18, 319\u2013324. (1998).","journal-title":"Nat. Genet."},{"key":"BFnrneph2016182_CR14","doi-asserted-by":"publisher","first-page":"13314","DOI":"10.1074\/jbc.M010562200","volume":"276","author":"S Cherqui","year":"2001","unstructured":"Cherqui, S., Kalatzis, V., Trugnan, G. & Antignac, C. The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif. J. Biol. Chem. 276, 13314\u201313321 (2001).","journal-title":"J. Biol. Chem."},{"key":"BFnrneph2016182_CR15","doi-asserted-by":"publisher","first-page":"5940","DOI":"10.1093\/emboj\/20.21.5940","volume":"20","author":"V Kalatzis","year":"2001","unstructured":"Kalatzis, V., Cherqui, S., Antignac, C. & Gasnier, B. Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. EMBO J. 20, 5940\u20135949. (2001).","journal-title":"EMBO J."},{"key":"BFnrneph2016182_CR16","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1203\/PDR.0b013e31809fda89","volume":"62","author":"V Kalatzis","year":"2007","unstructured":"Kalatzis, V. et al. The ocular anomalies in a cystinosis animal model mimic disease pathogenesis. Pediatr. Res. 62, 156\u2013162 (2007).","journal-title":"Pediatr. Res."},{"key":"BFnrneph2016182_CR17","first-page":"2212","volume":"17","author":"J Simpson","year":"2011","unstructured":"Simpson, J. et al. Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse. Mol. Vision 17, 2212\u20132220 (2011).","journal-title":"Mol. Vision"},{"key":"BFnrneph2016182_CR18","doi-asserted-by":"publisher","first-page":"7622","DOI":"10.1128\/MCB.22.21.7622-7632.2002","volume":"22","author":"S Cherqui","year":"2002","unstructured":"Cherqui, S. et al. Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol. Cell. Biol. 22, 7622\u20137632 (2002).","journal-title":"Mol. Cell. Biol."},{"key":"BFnrneph2016182_CR19","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1002\/jcsm.12056","volume":"7","author":"WW Cheung","year":"2016","unstructured":"Cheung, W. W. et al. Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis. J. Cachexia Sarcopenia Muscle 7, 152\u2013164 (2016).","journal-title":"J. Cachexia Sarcopenia Muscle"},{"key":"BFnrneph2016182_CR20","doi-asserted-by":"publisher","first-page":"2349","DOI":"10.1210\/en.2014-1672","volume":"6","author":"HP Gaide Chevronnay","year":"2015","unstructured":"Gaide Chevronnay, H. P. et al. A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress\/unfolded protein response and impaired lysosomal processing. Endocrinology 6, 2349\u20132364 (2015).","journal-title":"Endocrinology"},{"key":"BFnrneph2016182_CR21","doi-asserted-by":"publisher","first-page":"1059","DOI":"10.1093\/ndt\/gfp553","volume":"25","author":"N Nevo","year":"2010","unstructured":"Nevo, N. et al. Renal phenotype of the cystinosis mouse model is dependent upon genetic background. Nephrol. Dial Transplant 25, 1059\u20131066 (2010).","journal-title":"Nephrol. Dial Transplant"},{"key":"BFnrneph2016182_CR22","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1007\/PL00013448","volume":"15","author":"CP Mahoney","year":"2000","unstructured":"Mahoney, C. P. & Striker, G. E. Early development of the renal lesions in infantile cystinosis. Pediatr. Nephrol. 15, 50\u201356 (2000).","journal-title":"Pediatr. Nephrol."},{"key":"BFnrneph2016182_CR23","doi-asserted-by":"publisher","first-page":"1198","DOI":"10.1038\/ki.2010.537","volume":"79","author":"BA Yeagy","year":"2011","unstructured":"Yeagy, B. A. et al. Kidney preservation by bone marrow cell transplantation in hereditary nephropathy. Kidney Int. 79, 1198\u20131206 (2011).","journal-title":"Kidney Int."},{"key":"BFnrneph2016182_CR24","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1007\/BF00860767","volume":"9","author":"JA Schneider","year":"1995","unstructured":"Schneider, J. A. Approval of cysteamine for patients with cystinosis. Pediatr. Nephrol. 9, 254 (1995).","journal-title":"Pediatr. Nephrol."},{"key":"BFnrneph2016182_CR25","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1172\/JCI108448","volume":"58","author":"JG Thoene","year":"1976","unstructured":"Thoene, J. G., Oshima, R. G., Crawhall, J. C., Olson, D. L. & Schneider, J. A. Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo. J. Clin. Invest. 58, 180\u2013189 (1976).","journal-title":"J. Clin. Invest."},{"key":"BFnrneph2016182_CR26","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1038\/ki.2011.301","volume":"81","author":"S Cherqui","year":"2012","unstructured":"Cherqui, S. Cysteamine therapy: a treatment for cystinosis, not a cure. Kidney Int. 81, 127\u2013129 (2012).","journal-title":"Kidney Int."},{"key":"BFnrneph2016182_CR27","doi-asserted-by":"publisher","first-page":"242","DOI":"10.7326\/0003-4819-147-4-200708210-00006","volume":"147","author":"WA Gahl","year":"2007","unstructured":"Gahl, W. A., Balog, J. Z. & Kleta, R. Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann. Internal Med. 147, 242\u2013250 (2007).","journal-title":"Ann. Internal Med."},{"issue":"Suppl 4","key":"BFnrneph2016182_CR28","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1093\/ndt\/gfu090","volume":"29","author":"F Emma","year":"2014","unstructured":"Emma, F. et al. Nephropathic cystinosis: an international consensus document. Nephrol Dial Transplant 29, (Suppl 4) 87\u201394 (2014).","journal-title":"Nephrol Dial Transplant"},{"key":"BFnrneph2016182_CR29","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1016\/S0031-3955(16)33360-0","volume":"23","author":"JD Schulman","year":"1976","unstructured":"Schulman, J. D. & Schneider, J. A. Cystinosis and the Fanconi syndrome. Pediatr. Clin. North Amer. 23, 779\u2013793 (1976).","journal-title":"Pediatr. Clin. North Amer."},{"key":"BFnrneph2016182_CR30","doi-asserted-by":"publisher","first-page":"1037","DOI":"10.1016\/j.kint.2016.01.013","volume":"89","author":"EA Ivanova","year":"2016","unstructured":"Ivanova, E. A. et al. Cystinosin deficiency causes podocyte damage and loss associated with increased cell motility. Kidney Int. 89, 1037\u20131048 (2016).","journal-title":"Kidney Int."},{"key":"BFnrneph2016182_CR31","doi-asserted-by":"publisher","first-page":"893","DOI":"10.1053\/j.ajkd.2008.03.010","volume":"51","author":"MJ Wilmer","year":"2008","unstructured":"Wilmer, M. J., Christensen, E. I., van den Heuvel, L. P., Monnens, L. A. & Levtchenko, E. N. Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis. Am. J. Kidney. Dis. 51, 893\u2013903 (2008).","journal-title":"Am. J. Kidney. Dis."},{"key":"BFnrneph2016182_CR32","unstructured":"North American Pediatric Renal Trials and Collaborative Studies. NAPRTCS Annual Reports. NAPRTCS Online [online] https:\/\/web.emmes.com\/study\/ped\/annlrept\/annlrept.html , (2011)."},{"key":"BFnrneph2016182_CR33","doi-asserted-by":"publisher","first-page":"131","DOI":"10.3109\/13816818709028529","volume":"8","author":"JL Dufier","year":"1987","unstructured":"Dufier, J. L., Dhermy, P., Gubler, M. C., Gagnadoux, M. F. & Broyer, M. Ocular changes in long-term evolution of infantile cystinosis. Ophthalm. Paediatr. Genet. 8, 131\u2013137 (1987).","journal-title":"Ophthalm. Paediatr. Genet."},{"key":"BFnrneph2016182_CR34","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1016\/j.survophthal.2006.10.006","volume":"52","author":"E Tsilou","year":"2007","unstructured":"Tsilou, E., Zhou, M., Gahl, W., Sieving, P. C. & Chan, C. C. Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature. Survey Ophthalmol. 52, 97\u2013105 (2007).","journal-title":"Survey Ophthalmol."},{"key":"BFnrneph2016182_CR35","first-page":"123","volume":"66","author":"A Gultekingil Keser","year":"2014","unstructured":"Gultekingil Keser, A., Topaloglu, R., Bilginer, Y. & Besbas, N. Long-term endocrinologic complications of cystinosis. Minerva Pediatr. 66, 123\u2013130 (2014).","journal-title":"Minerva Pediatr."},{"key":"BFnrneph2016182_CR36","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1007\/s10545-011-9281-0","volume":"34","author":"MT Besouw","year":"2011","unstructured":"Besouw, M. T., Holewijn, S., Levtchenko, E. N. & Janssen, M. C. Non-invasive measurements of atherosclerosis in adult cystinosis patients. J. Inherited Metabol. Dis. 34, 811\u2013818 (2011).","journal-title":"J. Inherited Metabol. Dis."},{"key":"BFnrneph2016182_CR37","doi-asserted-by":"publisher","first-page":"555","DOI":"10.2215\/CJN.01431005","volume":"1","author":"M Ueda","year":"2006","unstructured":"Ueda, M. et al. Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation. Clin. J. Am. Soc. Nephrol. 1, 555\u2013562 (2006).","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"BFnrneph2016182_CR38","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1186\/1471-2369-3-8","volume":"3","author":"MP Dixit","year":"2002","unstructured":"Dixit, M. P. & Greifer, I. Nephropathic cystinosis associated with cardiomyopathy: a 27-year clinical follow-up. BMC Nephrol. 3, 8 (2002).","journal-title":"BMC Nephrol."},{"key":"BFnrneph2016182_CR39","first-page":"137","volume":"10","author":"M Broyer","year":"1981","unstructured":"Broyer, M., Guillot, M., Gubler, M. C. & Habib, R. Infantile cystinosis: a reappraisal of early and late symptoms. Adv. Nephrol. Necker Hosp. 10, 137\u2013166 (1981).","journal-title":"Adv. Nephrol. Necker Hosp."},{"key":"BFnrneph2016182_CR40","doi-asserted-by":"publisher","unstructured":"Klusmann, M., Van' t Hoff, W., Monsell, F. & Offiah, A. C. Progressive destructive bone changes in patients with cystinosis. Skeletal Radiol. http:\/\/dx.doi.org\/10.1007\/s00256-013-1735-z","DOI":"10.1007\/s00256-013-1735-z"},{"key":"BFnrneph2016182_CR41","first-page":"828","volume":"5","author":"J Bacchetta","year":"2016","unstructured":"Bacchetta, J. et al. Skeletal implications and management of cystinosis: three case reports and literature review. Bonekey Rep. 5, 828 (2016).","journal-title":"Bonekey Rep."},{"key":"BFnrneph2016182_CR42","first-page":"254","volume":"13","author":"AO Ballantyne","year":"2000","unstructured":"Ballantyne, A. O. & Trauner, D. A. Neurobehavioral consequences of a genetic metabolic disorder: visual processing deficits in infantile nephropathic cystinosis. Cogn. Behav. Neurol. 13, 254\u2013263 (2000).","journal-title":"Cogn. Behav. Neurol."},{"key":"BFnrneph2016182_CR43","doi-asserted-by":"publisher","first-page":"67","DOI":"10.2466\/pms.1996.82.1.67","volume":"82","author":"KM Scarvie","year":"1996","unstructured":"Scarvie, K. M., Ballantyne, A. O. & Trauner, D. A. Visuomotor performance in children with infantile nephropathic cystinosis. Percep. Mot. Skills 82, 67\u201375 (1996).","journal-title":"Percep. Mot. Skills"},{"key":"BFnrneph2016182_CR44","doi-asserted-by":"publisher","first-page":"912","DOI":"10.1016\/S0022-3476(88)80214-2","volume":"112","author":"DA Trauner","year":"1988","unstructured":"Trauner, D. A., Chase, C., Scheller, J., Katz, B. & Schneider, J. A. Neurologic and cognitive deficits in children with cystinosis. J. Pediatr. 112, 912\u2013914 (1988).","journal-title":"J. Pediatr."},{"key":"BFnrneph2016182_CR45","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1016\/j.jpeds.2007.02.062","volume":"151","author":"DA Trauner","year":"2007","unstructured":"Trauner, D. A., Spilkin, A. M., Williams, J. & Babchuck, L. Specific cognitive deficits in young children with cystinosis: evidence for an early effect of the cystinosin gene on neural function. J. Pediatr. 151, 192\u2013196 (2007).","journal-title":"J. Pediatr."},{"key":"BFnrneph2016182_CR46","doi-asserted-by":"publisher","first-page":"2061","DOI":"10.1007\/s00467-010-1589-8","volume":"25","author":"DA Trauner","year":"2010","unstructured":"Trauner, D. A. et al. Neurological impairment in nephropathic cystinosis: motor coordination deficits. Pediatr. Nephrol. 25, 2061\u20132066 (2010).","journal-title":"Pediatr. Nephrol."},{"key":"BFnrneph2016182_CR47","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1016\/j.jpeds.2013.01.027","volume":"163","author":"L Viltz","year":"2013","unstructured":"Viltz, L. & Trauner, D. A. Effect of age at treatment on cognitive performance in patients with cystinosis. J. Pediatr. 163, 489\u2013492 (2013).","journal-title":"J. Pediatr."},{"key":"BFnrneph2016182_CR48","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1378\/chest.119.2.394","volume":"119","author":"Y Anikster","year":"2001","unstructured":"Anikster, Y. et al. Pulmonary dysfunction in adults with nephropathic cystinosis. Chest 119, 394\u2013401 (2001).","journal-title":"Chest"},{"key":"BFnrneph2016182_CR49","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1097\/01.md.0000164204.00159.d4","volume":"84","author":"BC Sonies","year":"2005","unstructured":"Sonies, B. C., Almajid, P., Kleta, R., Bernardini, I. & Gahl, W. A. Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy. Medicine 84, 137\u2013146 (2005).","journal-title":"Medicine"},{"key":"BFnrneph2016182_CR50","doi-asserted-by":"publisher","first-page":"925","DOI":"10.1046\/j.1523-1755.2000.00250.x","volume":"58","author":"M Levy","year":"2000","unstructured":"Levy, M. & Feingold, J. Estimating prevalence in single-gene kidney diseases progressing to renal failure. Kidney Int. 58, 925\u2013943 (2000).","journal-title":"Kidney Int."},{"key":"BFnrneph2016182_CR51","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1136\/jmg.13.6.434","volume":"13","author":"E Bois","year":"1976","unstructured":"Bois, E., Feingold, J., Frenay, P. & Briard, M.-L. Infantile cystinosis in France: genetics, incidence, geographic distribution. J. Med. Genet. 13, 434\u2013438 (1976).","journal-title":"J. Med. Genet."},{"key":"BFnrneph2016182_CR52","first-page":"28","volume-title":"Cystinosis","author":"P Cochat","year":"1999","unstructured":"Cochat, P., Cordier, B., Lac\u00f4te, C. & Sa\u00efd, M.-H. in Cystinosis (ed. Broyer, M.) 28\u201335 (Elsevier, 1999)."},{"key":"BFnrneph2016182_CR53","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1159\/000153992","volume":"41","author":"M DeBraekeleer","year":"1991","unstructured":"DeBraekeleer, M. Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). Hum. Hered. 41, 141\u2013146 (1991).","journal-title":"Hum. Hered."},{"key":"BFnrneph2016182_CR54","doi-asserted-by":"publisher","first-page":"2507","DOI":"10.1093\/hmg\/8.13.2507","volume":"8","author":"M Attard","year":"1999","unstructured":"Attard, M. et al. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. Hum. Mol. Genet. 8, 2507\u20132514 (1999).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneph2016182_CR55","doi-asserted-by":"crossref","first-page":"2170","DOI":"10.1681\/ASN.V12102170","volume":"12","author":"V Kalatzis","year":"2001","unstructured":"Kalatzis, V. et al. Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany. J. Am. Soc. Nephrol. 12, 2170\u20132174 (2001).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrneph2016182_CR56","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1038\/sj.ejhg.5200349","volume":"7","author":"J McGowan-Jordan","year":"1999","unstructured":"McGowan-Jordan, J. et al. Molecular Analysis of Cystinosis: Probable Irish Origin of the Most Common French Canadian Mutation. Eur. J. Hum. Genet. 7, 671\u2013678 (1999).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFnrneph2016182_CR57","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1006\/mgme.1998.2790","volume":"66","author":"Y Anikster","year":"1999","unstructured":"Anikster, Y. et al. Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS). Mol. Genet. Metab. 66, 111\u2013116 (1999).","journal-title":"Mol. Genet. Metab."},{"key":"BFnrneph2016182_CR58","doi-asserted-by":"publisher","first-page":"185","DOI":"10.3109\/13816810903200953","volume":"30","author":"MA Aldahmesh","year":"2009","unstructured":"Aldahmesh, M. A. et al. Characterization of CTNS mutations in Arab patients with cystinosis. Ophthalm. Genet. 30, 185\u2013189 (2009).","journal-title":"Ophthalm. Genet."},{"key":"BFnrneph2016182_CR59","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1007\/s00467-014-2980-7","volume":"30","author":"EP Owen","year":"2015","unstructured":"Owen, E. P. et al. Common mutation causes cystinosis in the majority of black South African patients. Pediatr. Nephrol. 30, 595\u2013601 (2015).","journal-title":"Pediatr. Nephrol."},{"key":"BFnrneph2016182_CR60","first-page":"308","volume":"33","author":"S Shahkarami","year":"2013","unstructured":"Shahkarami, S., Galehdari, H., Ahmadzadeh, A., Babaahmadi, M. & Pedram, M. The first molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran. Nefrologia 33, 308\u2013315 (2013).","journal-title":"Nefrologia"},{"key":"BFnrneph2016182_CR61","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1007\/8904_2013_288","volume":"14","author":"NA Soliman","year":"2014","unstructured":"Soliman, N. A. et al. Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis. JIMD reports 14, 87\u201397 (2014).","journal-title":"JIMD reports"},{"key":"BFnrneph2016182_CR62","doi-asserted-by":"publisher","first-page":"1224","DOI":"10.4103\/1319-2442.144256","volume":"25","author":"R Aly","year":"2014","unstructured":"Aly, R., Makar, S., El Bakri, A. & Soliman, N. A. Neurocognitive functions and behavioral profiles in children with nephropathic cystinosis. Saudi J. Kidney Dis. Transpl. 25, 1224\u20131231 (2014).","journal-title":"Saudi J. Kidney Dis. Transpl."},{"key":"BFnrneph2016182_CR63","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1007\/s12098-015-2014-x","volume":"8","author":"MA Elmonem","year":"2016","unstructured":"Elmonem, M. A. et al. Lysosomal Storage Disorders in Egyptian Children. Indian J. Pediatr. 8, 805\u2013813 (2016).","journal-title":"Indian J. Pediatr."},{"key":"BFnrneph2016182_CR64","first-page":"21","volume":"40","author":"M Mirdehghan","year":"2003","unstructured":"Mirdehghan, M., Ahmadzadeh, A., Bana-Behbahani, M., Motlagh, I. & Chomali, B. Infantile cystinosis. Indian Pediatr. 40, 21\u201324 (2003).","journal-title":"Indian Pediatr."},{"key":"BFnrneph2016182_CR65","first-page":"34","volume":"54","author":"NA Kir'ianov","year":"1992","unstructured":"Kir'ianov, N. A., Bazhenov, E. L. & Stetsenko, E. V. [Cystinosis in an adult]. Arkh. Patol. 54, 34\u201336 (1992).","journal-title":"Arkh. Patol."},{"key":"BFnrneph2016182_CR66","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1089\/gtmb.2008.0156","volume":"13","author":"S Tang","year":"2009","unstructured":"Tang, S., Danda, S., Zoleikhaeian, M., Simon, M. & Huang, T. An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation. Genet. Test. Mol. Biomarkers 13, 435\u2013438 (2009).","journal-title":"Genet. Test. Mol. Biomarkers"},{"key":"BFnrneph2016182_CR67","doi-asserted-by":"crossref","first-page":"309410","DOI":"10.1155\/2015\/309410","volume":"2015","author":"YJ Yang","year":"2015","unstructured":"Yang, Y. J. et al. First report of CTNS mutations in a Chinese family with infantile cystinosis. ScientificWorldJournal 2015, 309410 (2015).","journal-title":"ScientificWorldJournal"},{"key":"BFnrneph2016182_CR68","doi-asserted-by":"crossref","unstructured":"The Cystinosis Collaborative Research Group. Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. Nat. Genet. 10, 246\u2013248 (1995).","DOI":"10.1038\/ng0695-246"},{"key":"BFnrneph2016182_CR69","doi-asserted-by":"publisher","first-page":"F1101","DOI":"10.1152\/ajprenal.00413.2007","volume":"294","author":"A Taranta","year":"2008","unstructured":"Taranta, A. et al. Identification and subcellular localization of a new cystinosin isoform. Am. J. Physiol. Renal Physiol. 294, F1101\u20131108 (2008).","journal-title":"Am. J. Physiol. Renal Physiol."},{"key":"BFnrneph2016182_CR70","doi-asserted-by":"publisher","first-page":"e0154805","DOI":"10.1371\/journal.pone.0154805","volume":"11","author":"F Bellomo","year":"2016","unstructured":"Bellomo, F. et al. Carboxyl-Terminal SSLKG Motif of the Human Cystinosin-LKG Plays an Important Role in Plasma Membrane Sorting. PLoS ONE 11, e0154805 (2016).","journal-title":"PLoS ONE"},{"key":"BFnrneph2016182_CR71","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1007\/s00418-012-0958-8","volume":"138","author":"A Taranta","year":"2012","unstructured":"Taranta, A. et al. Distribution of cystinosin-LKG in human tissues. Histochem. Cell Biol. 138, 351\u2013363 (2012).","journal-title":"Histochem. Cell Biol."},{"key":"BFnrneph2016182_CR72","doi-asserted-by":"publisher","first-page":"712","DOI":"10.1111\/tra.12277","volume":"16","author":"Z Andrzejewska","year":"2015","unstructured":"Andrzejewska, Z. et al. Lysosomal Targeting of Cystinosin Requires AP-3. Traffic 16, 712\u2013726 (2015).","journal-title":"Traffic"},{"key":"BFnrneph2016182_CR73","doi-asserted-by":"publisher","first-page":"1313","DOI":"10.1091\/mbc.e03-02-0120","volume":"15","author":"A Kyttala","year":"2004","unstructured":"Kyttala, A., Ihrke, G., Vesa, J., Schell, M. J. & Luzio, J. P. Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells. Mol. Biol. Cell 15, 1313\u20131323 (2004).","journal-title":"Mol. Biol. Cell"},{"key":"BFnrneph2016182_CR74","doi-asserted-by":"publisher","first-page":"e30876","DOI":"10.1371\/journal.pone.0030876","volume":"7","author":"V Saudek","year":"2012","unstructured":"Saudek, V. Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors involved in vesicle trafficking. PLoS ONE 7, e30876 (2012).","journal-title":"PLoS ONE"},{"key":"BFnrneph2016182_CR75","doi-asserted-by":"publisher","first-page":"E210","DOI":"10.1073\/pnas.1115581109","volume":"109","author":"R Ruivo","year":"2012","unstructured":"Ruivo, R. et al. Mechanism of proton\/substrate coupling in the heptahelical lysosomal transporter cystinosin. Proc. Natl Acad. Sci. USA 109, E210\u2013217 (2012).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrneph2016182_CR76","doi-asserted-by":"publisher","first-page":"6112","DOI":"10.1038\/ncomms7112","volume":"6","author":"Y Lee","year":"2015","unstructured":"Lee, Y., Nishizawa, T., Yamashita, K., Ishitani, R. & Nureki, O. Structural basis for the facilitative diffusion mechanism by SemiSWEET transporter. Nat. Commun. 6, 6112 (2015).","journal-title":"Nat. Commun."},{"key":"BFnrneph2016182_CR77","doi-asserted-by":"publisher","first-page":"E3434","DOI":"10.1073\/pnas.1211198109","volume":"109","author":"A Jezegou","year":"2012","unstructured":"Jezegou, A. et al. Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy. Proc. Natl Acad. Sci. USA 109, E3434\u20133443 (2012).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrneph2016182_CR78","doi-asserted-by":"publisher","first-page":"11786","DOI":"10.1074\/jbc.272.18.11786","volume":"272","author":"M Thamotharan","year":"1997","unstructured":"Thamotharan, M., Lombardo, Y. B., Bawani, S. Z. & Adibi, S. A. An active mechanism for completion of the final stage of protein degradation in the liver, lysosomal transport of dipeptides. J. Biol. Chem. 272, 11786\u201311790 (1997).","journal-title":"J. Biol. Chem."},{"key":"BFnrneph2016182_CR79","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.ymgme.2013.01.014","volume":"109","author":"J Thoene","year":"2013","unstructured":"Thoene, J. et al. In vitro correction of disorders of lysosomal transport by microvesicles derived from baculovirus-infected Spodoptera cells. Mol. Genet. Metab. 109, 77\u201385 (2013).","journal-title":"Mol. Genet. Metab."},{"key":"BFnrneph2016182_CR80","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1007\/BF00219337","volume":"88","author":"P Leinekugel","year":"1992","unstructured":"Leinekugel, P., Michel, S., Conzelmann, E. & Sandhoff, K. Quantitative Correlation between the Residual Activity of Beta-Hexosaminidase-a and Arylsulfatase-a and the Severity of the Resulting Lysosomal Storage Disease. Hum. Genet. 88, 513\u2013523 (1992).","journal-title":"Hum. Genet."},{"key":"BFnrneph2016182_CR81","doi-asserted-by":"publisher","first-page":"1361","DOI":"10.1093\/hmg\/ddh152","volume":"13","author":"V Kalatzis","year":"2004","unstructured":"Kalatzis, V., Nevo, N., Cherqui, S., Gasnier, B. & Antignac, C. Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. Hum. Mol. Genet. 13, 1361\u20131371 (2004).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneph2016182_CR82","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1042\/bj2080823","volume":"208","author":"JG Thoene","year":"1982","unstructured":"Thoene, J. G. & Lemons, R. M. Cystine accumulation in cystinotic fibroblasts from free and protein-linked cystine but not cysteine. Biochem. J. 208, 823\u2013830 (1982).","journal-title":"Biochem. J."},{"key":"BFnrneph2016182_CR83","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1203\/00006450-198006000-00001","volume":"14","author":"JG Thoene","year":"1980","unstructured":"Thoene, J. G. & Lemons, R. Modulation of the intracellular cystine content of cystinotic fibroblasts by extracellular albumin. Pediatr. Res. 14, 785\u2013787 (1980).","journal-title":"Pediatr. Res."},{"key":"BFnrneph2016182_CR84","doi-asserted-by":"publisher","first-page":"4505","DOI":"10.1073\/pnas.74.10.4505","volume":"74","author":"JG Thoene","year":"1977","unstructured":"Thoene, J. G., Oshima, R. G., Ritchie, D. G. & Schneider, J. A. Cystinotic fibroblasts accumulate cystine from intracellular protein degradation. Proc. Natl Acad. Sci. USA 74, 4505\u20134507 (1977).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrneph2016182_CR85","doi-asserted-by":"publisher","first-page":"1859","DOI":"10.1681\/ASN.2010050492","volume":"21","author":"S Amsellem","year":"2010","unstructured":"Amsellem, S. et al. Cubilin is essential for albumin reabsorption in the renal proximal tubule. J. Am. Soc. Nephrol. 21, 1859\u20131867 (2010).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrneph2016182_CR86","doi-asserted-by":"publisher","first-page":"1815","DOI":"10.1681\/ASN.2011040337","volume":"22","author":"B Ovunc","year":"2011","unstructured":"Ovunc, B. et al. Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria. J. Am. Soc. Nephrol. 22, 1815\u20131820 (2011).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrneph2016182_CR87","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1016\/0006-291X(83)90394-7","volume":"116","author":"RP Oude Elferink","year":"1983","unstructured":"Oude Elferink, R. P., Harms, E., Strijland, A. & Tager, J. M. The intralysosomal pH in cultured human skin fibroblasts in relation to cystine accumulation in patients with cystinosis. Biochem. Biophys. Res. Commun. 116, 154\u2013161 (1983).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFnrneph2016182_CR88","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1186\/s13023-016-0426-y","volume":"11","author":"MA Elmonem","year":"2016","unstructured":"Elmonem, M. A. et al. Cystinosis: a review. Orphanet J. Rare Diseases 11, 47 (2016).","journal-title":"Orphanet J. Rare Diseases"},{"key":"BFnrneph2016182_CR89","doi-asserted-by":"publisher","first-page":"1011","DOI":"10.1083\/jcb.132.6.1011","volume":"132","author":"CE Futter","year":"1996","unstructured":"Futter, C. E., Pearse, A., Hewlett, L. J. & Hopkins, C. R. Multivesicular endosomes containing internalized EGF-EGF receptor complexes mature and then fuse directly with lysosomes. J. Cell Biol. 132, 1011\u20131023 (1996).","journal-title":"J. Cell Biol."},{"key":"BFnrneph2016182_CR90","doi-asserted-by":"crossref","first-page":"3087","DOI":"10.4049\/jimmunol.147.9.3087","volume":"147","author":"RR Montgomery","year":"1991","unstructured":"Montgomery, R. R., Webster, P. & Mellman, I. Accumulation of indigestible substances reduces fusion competence of macrophage lysosomes. J. Immunol. 147, 3087\u20133095 (1991).","journal-title":"J. Immunol."},{"key":"BFnrneph2016182_CR91","doi-asserted-by":"publisher","first-page":"1256","DOI":"10.1681\/ASN.2013060598","volume":"25","author":"HP Gaide Chevronnay","year":"2014","unstructured":"Gaide Chevronnay, H. P. et al. Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys. J. Am. Soc. Nephrol. 25, 1256\u20131269 (2014).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrneph2016182_CR92","first-page":"42","volume-title":"Cystinosis","author":"MC Gubler","year":"1999","unstructured":"Gubler, M. C., Lacoste, M., Sich, M. & Broyer, M. in Cystinosis Vol. 1st (ed. Broyer, M.) 42\u201348 (Elsevier, 1999)."},{"key":"BFnrneph2016182_CR93","doi-asserted-by":"publisher","first-page":"1163","DOI":"10.1681\/ASN.2013060653","volume":"25","author":"G Prencipe","year":"2014","unstructured":"Prencipe, G. et al. Inflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis. J. Am. Soc. Nephrol. 25, 1163\u20131169 (2014).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrneph2016182_CR94","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1007\/s004670050495","volume":"12","author":"M Baum","year":"1998","unstructured":"Baum, M. The Fanconi syndrome of cystinosis: insights into the pathophysiology. Pediatr. Nephrol. 12, 492\u2013497 (1998).","journal-title":"Pediatr. Nephrol."},{"key":"BFnrneph2016182_CR95","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1172\/JCI115103","volume":"87","author":"C Coor","year":"1991","unstructured":"Coor, C., Salmon, R. F., Quigley, R., Marver, D. & Baum, M. Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading. J. Clin. Invest. 87, 955\u2013961 (1991).","journal-title":"J. Clin. Invest."},{"key":"BFnrneph2016182_CR96","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1681\/ASN.V62269","volume":"6","author":"JW Foreman","year":"1995","unstructured":"Foreman, J. W. et al. Metabolic studies of rat renal tubule cells loaded with cystine: the cystine dimethylester model of cystinosis. J. Am. Soc. Nephrol. 6, 269\u2013272 (1995).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrneph2016182_CR97","doi-asserted-by":"publisher","first-page":"2373","DOI":"10.1007\/s11064-008-9709-6","volume":"33","author":"MJ Wilmer","year":"2008","unstructured":"Wilmer, M. J., van den Heuvel, L. P. & Levtchenko, E. N. The use of CDME in cystinosis research. Neurochem. Res. 33, 2373\u20132374 (2008).","journal-title":"Neurochem. Res."},{"key":"BFnrneph2016182_CR98","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1203\/01.pdr.0000196334.46940.54","volume":"59","author":"EN Levtchenko","year":"2006","unstructured":"Levtchenko, E. N. et al. Decreased intracellular ATP content and intact mitochondrial energy generating capacity in human cystinotic fibroblasts. Pediatr. Res. 59, 287\u2013292 (2006).","journal-title":"Pediatr. Res."},{"key":"BFnrneph2016182_CR99","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1203\/PDR.0b013e318183fd67","volume":"64","author":"MJ Wilmer","year":"2008","unstructured":"Wilmer, M. J. et al. Mitochondrial complex V expression and activity in cystinotic fibroblasts. Pediatr. Res. 64, 495\u2013497 (2008).","journal-title":"Pediatr. Res."},{"key":"BFnrneph2016182_CR100","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/j.bbrc.2011.03.022","volume":"407","author":"ML Taub","year":"2011","unstructured":"Taub, M. L., Springate, J. E. & Cutuli, F. Reduced phosphate transport in the renal proximal tubule cells in cystinosis is due to decreased expression of transporters rather than an energy defect. Biochem. Biophys. Res. Commun. 407, 355\u2013359 (2011).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFnrneph2016182_CR101","doi-asserted-by":"publisher","first-page":"516","DOI":"10.1016\/j.bbrc.2012.08.115","volume":"426","author":"M Taub","year":"2012","unstructured":"Taub, M. & Cutuli, F. Activation of AMP kinase plays a role in the increased apoptosis in the renal proximal tubule in cystinosis. Biochem. Biophys. Res. Commun. 426, 516\u2013521 (2012).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFnrneph2016182_CR102","doi-asserted-by":"publisher","first-page":"2878","DOI":"10.1097\/01.ASN.0000036867.49866.59","volume":"13","author":"M Park","year":"2002","unstructured":"Park, M., Helip-Wooley, A. & Thoene, J. Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells. J. Am. Soc. Nephrol. 13, 2878\u20132887 (2002).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrneph2016182_CR103","doi-asserted-by":"publisher","first-page":"3167","DOI":"10.1681\/ASN.2006050474","volume":"17","author":"MA Park","year":"2006","unstructured":"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 Cdelta. J. Am. Soc. Nephrol. 17, 3167\u20133175 (2006).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrneph2016182_CR104","doi-asserted-by":"publisher","first-page":"F1155","DOI":"10.1152\/ajprenal.00591.2014","volume":"308","author":"CI Galarreta","year":"2015","unstructured":"Galarreta, C. I. et al. The swan-neck lesion: proximal tubular adaptation to oxidative stress in nephropathic cystinosis. Am. J. Physiol. Renal Physiol. 308, F1155\u20131166 (2015).","journal-title":"Am. J. Physiol. Renal Physiol."},{"key":"BFnrneph2016182_CR105","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1007\/s00467-009-1289-4","volume":"25","author":"P Sansanwal","year":"2010","unstructured":"Sansanwal, P., Kambham, N. & Sarwal, M. M. Caspase-4 may play a role in loss of proximal tubules and renal injury in nephropathic cystinosis. Pediatr. Nephrol. 25, 105\u2013109 (2010).","journal-title":"Pediatr. Nephrol."},{"key":"BFnrneph2016182_CR106","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1016\/j.bbrc.2004.09.033","volume":"324","author":"M Chol","year":"2004","unstructured":"Chol, M., Nevo, N., Cherqui, S., Antignac, C. & Rustin, P. Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines. Biochem. Biophys. Res. Commun. 324, 231\u2013235 (2004).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFnrneph2016182_CR107","doi-asserted-by":"publisher","first-page":"1828","DOI":"10.1093\/ndt\/gfh932","volume":"20","author":"E Levtchenko","year":"2005","unstructured":"Levtchenko, E. et al. Altered status of glutathione and its metabolites in cystinotic cells. Nephrol. Dial. Transplant. 20, 1828\u20131832 (2005).","journal-title":"Nephrol. Dial. Transplant."},{"key":"BFnrneph2016182_CR108","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1016\/j.bbrc.2005.09.094","volume":"337","author":"MJ Wilmer","year":"2005","unstructured":"Wilmer, M. J. et al. Elevated oxidized glutathione in cystinotic proximal tubular epithelial cells. Biochem. Biophys. Res. Commun. 337, 610\u2013614 (2005).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFnrneph2016182_CR109","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1203\/01.pdr.0000196370.57200.da","volume":"59","author":"L Mannucci","year":"2006","unstructured":"Mannucci, L. et al. Impaired activity of the gamma-glutamyl cycle in nephropathic cystinosis fibroblasts. Pediatr. Res. 59, 332\u2013335 (2006).","journal-title":"Pediatr. Res."},{"key":"BFnrneph2016182_CR110","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1023\/A:1005545012776","volume":"22","author":"C Rizzo","year":"1999","unstructured":"Rizzo, C. et al. Pyroglutamic aciduria and nephropathic cystinosis. J. Inherited Metabol. Dis. 22, 224\u2013226 (1999).","journal-title":"J. Inherited Metabol. Dis."},{"key":"BFnrneph2016182_CR111","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1007\/s00467-006-0005-x","volume":"21","author":"GF Laube","year":"2006","unstructured":"Laube, G. F. et al. Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells. Pediatr. Nephrol. 21, 503\u2013509 (2006).","journal-title":"Pediatr. Nephrol."},{"key":"BFnrneph2016182_CR112","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1203\/00006450-199404000-00012","volume":"35","author":"A Sakarcan","year":"1994","unstructured":"Sakarcan, A., Timmons, C. & Baum, M. Intracellular distribution of cystine in cystine-loaded proximal tubules. Pediatr. Res. 35, 447\u2013450 (1994).","journal-title":"Pediatr. Res."},{"key":"BFnrneph2016182_CR113","first-page":"206","volume":"91","author":"GS Spear","year":"1971","unstructured":"Spear, G. S., Slusser, R. J., Tousimis, A. J., Taylor, C. G. & Schulman, J. D. Cystinosis. An ultrastructural and electron-probe study of the kidney with unusual findings. Arch. Pathol. 91, 206\u2013221 (1971).","journal-title":"Arch. Pathol."},{"key":"BFnrneph2016182_CR114","first-page":"1097","volume":"29","author":"L Pache de Faria Guimaraes","year":"2014","unstructured":"Pache de Faria Guimaraes, L. et al. N-Acetyl-cysteine is associated to renal function improvement in patients with nephropathic cystinosis. Pediatr. Nephrol. 29, 1097\u20131102 (2014).","journal-title":"Pediatr. Nephrol."},{"key":"BFnrneph2016182_CR115","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1111\/j.1432-1033.1981.tb05294.x","volume":"116","author":"P Moldeus","year":"1981","unstructured":"Moldeus, P., Ormstad, K. & Reed, D. J. Turnover of cellular glutathione in isolated rat-kidney cells. Role of cystine and methionine. Eur. J. Biochem. 116, 13\u201316 (1981).","journal-title":"Eur. J. Biochem."},{"key":"BFnrneph2016182_CR116","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1080\/07315724.1986.10720121","volume":"5","author":"A Meister","year":"1986","unstructured":"Meister, A., Anderson, M. E. & Hwang, O. Intracellular cysteine and glutathione delivery systems. J. Am. College Nutr. 5, 137\u2013151 (1986).","journal-title":"J. Am. College Nutr."},{"key":"BFnrneph2016182_CR117","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1152\/physiolgenomics.00193.2006","volume":"28","author":"IM Frey","year":"2007","unstructured":"Frey, I. M. et al. Profiling at mRNA, protein, and metabolite levels reveals alterations in renal amino acid handling and glutathione metabolism in kidney tissue of Pept2\u2212\/\u2212 mice. Physiol. Genom. 28, 301\u2013310 (2007).","journal-title":"Physiol. Genom."},{"key":"BFnrneph2016182_CR118","doi-asserted-by":"publisher","first-page":"799","DOI":"10.1136\/pgmj.2005.044156","volume":"82","author":"K Ahmed","year":"2006","unstructured":"Ahmed, K., Dasgupta, P. & Khan, M. S. Cystine calculi: challenging group of stones. Postgrad. Med. J. 82, 799\u2013801 (2006).","journal-title":"Postgrad. Med. J."},{"key":"BFnrneph2016182_CR119","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1007\/s11064-007-9486-7","volume":"33","author":"A Kessler","year":"2008","unstructured":"Kessler, A. et al. Antioxidant effect of cysteamine in brain cortex of young rats. Neurochem. Res. 33, 737\u2013744 (2008).","journal-title":"Neurochem. Res."},{"key":"BFnrneph2016182_CR120","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1681\/ASN.2012090962","volume":"25","author":"DM Okamura","year":"2014","unstructured":"Okamura, D. M. et al. Cysteamine modulates oxidative stress and blocks myofibroblast activity in CKD. J. Am. Soc. Nephrol. 25, 43\u201354 (2014).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrneph2016182_CR121","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1016\/j.bbadis.2011.02.010","volume":"1812","author":"MJ Wilmer","year":"2011","unstructured":"Wilmer, M. J. et al. Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells. Biochim. Biophys. Acta 1812, 643\u2013651 (2011).","journal-title":"Biochim. Biophys. Acta"},{"key":"BFnrneph2016182_CR122","doi-asserted-by":"publisher","first-page":"2266","DOI":"10.1093\/hmg\/ddt617","volume":"23","author":"C Raggi","year":"2014","unstructured":"Raggi, C. et al. Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis. Hum. Mol. Genet. 23, 2266\u20132278 (2014).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneph2016182_CR123","doi-asserted-by":"publisher","first-page":"e0120998","DOI":"10.1371\/journal.pone.0120998","volume":"10","author":"EA Ivanova","year":"2015","unstructured":"Ivanova, E. A. et al. Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin. PLoS ONE 10, e0120998 (2015).","journal-title":"PLoS ONE"},{"key":"BFnrneph2016182_CR124","doi-asserted-by":"publisher","first-page":"8472","DOI":"10.1073\/pnas.1432873100","volume":"100","author":"EI Christensen","year":"2003","unstructured":"Christensen, E. I. et al. Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules. Proc. Natl Acad. Sci. USA 100, 8472\u20138477 (2003).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrneph2016182_CR125","doi-asserted-by":"publisher","first-page":"4970","DOI":"10.1038\/emboj.2011.354","volume":"30","author":"M Vicinanza","year":"2011","unstructured":"Vicinanza, M. et al. OCRL controls trafficking through early endosomes via PtdIns4,5P(2)-dependent regulation of endosomal actin. EMBO J. 30, 4970\u20134985 (2011).","journal-title":"EMBO J."},{"key":"BFnrneph2016182_CR126","doi-asserted-by":"publisher","first-page":"e86847","DOI":"10.1371\/journal.pone.0086847","volume":"9","author":"D Bandyopadhyay","year":"2014","unstructured":"Bandyopadhyay, D., Cyphersmith, A., Zapata, J. A., Kim, Y. J. & Payne, C. K. Lysosome transport as a function of lysosome diameter. PLoS ONE 9, e86847 (2014).","journal-title":"PLoS ONE"},{"key":"BFnrneph2016182_CR127","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1038\/ncb3324","volume":"18","author":"X Li","year":"2016","unstructured":"Li, X. et al. A molecular mechanism to regulate lysosome motility for lysosome positioning and tubulation. Nat. Cell Biol. 18, 404\u2013417 (2016).","journal-title":"Nat. Cell Biol."},{"key":"BFnrneph2016182_CR128","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1016\/j.ceca.2016.07.001","volume":"60","author":"EA Ivanova","year":"2016","unstructured":"Ivanova, E. A. et al. Ca(2+) signalling in human proximal tubular epithelial cells deficient for cystinosin. Cell Calcium 60, 282\u2013287 (2016).","journal-title":"Cell Calcium"},{"key":"BFnrneph2016182_CR129","doi-asserted-by":"publisher","first-page":"2950","DOI":"10.1128\/MCB.00417-13","volume":"33","author":"JL Johnson","year":"2013","unstructured":"Johnson, J. L. et al. Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis. Mol. Cell. Biol. 33, 2950\u20132962 (2013).","journal-title":"Mol. Cell. Biol."},{"key":"BFnrneph2016182_CR130","doi-asserted-by":"publisher","first-page":"1152","DOI":"10.1126\/science.166.3909.1152","volume":"166","author":"JD Schulman","year":"1969","unstructured":"Schulman, J. D., Bradley, K. H. & Seegmiller, J. E. Cystine: compartmentalization within lysosomes in cystinotic leukocytes. Science 166, 1152\u20131154 (1969).","journal-title":"Science"},{"key":"BFnrneph2016182_CR131","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1042\/bj2040471","volume":"204","author":"T Kooistra","year":"1982","unstructured":"Kooistra, T., Millard, P. C. & Lloyd, J. B. Role of thiols in degradation of proteins by cathepsins. Biochem. J. 204, 471\u2013477 (1982).","journal-title":"Biochem. J."},{"key":"BFnrneph2016182_CR132","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1016\/j.molmed.2012.05.007","volume":"18","author":"A Efeyan","year":"2012","unstructured":"Efeyan, A., Zoncu, R. & Sabatini, D. M. Amino acids and mTORC1: from lysosomes to disease. Trends Mol. Med. 18, 524\u2013533 (2012).","journal-title":"Trends Mol. Med."},{"key":"BFnrneph2016182_CR133","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1038\/nrm3565","volume":"14","author":"C Settembre","year":"2013","unstructured":"Settembre, C., Fraldi, A., Medina, D. L. & Ballabio, A. Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nat. Rev. Mol. Cell Biol. 14, 283\u2013296 (2013).","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"BFnrneph2016182_CR134","doi-asserted-by":"publisher","first-page":"158","DOI":"10.15252\/emmm.201404223","volume":"2","author":"G Napolitano","year":"2015","unstructured":"Napolitano, G. et al. Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. EMBO Mol. Med. 2, 158\u2013174 (2015).","journal-title":"EMBO Mol. Med."},{"key":"BFnrneph2016182_CR135","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1681\/ASN.2009040383","volume":"21","author":"P Sansanwal","year":"2010","unstructured":"Sansanwal, P. et al. Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis. J. Am. Soc. Nephrol. 21, 272\u2013283 (2010).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrneph2016182_CR136","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1038\/nrneph.2016.108","volume":"12","author":"D Fantus","year":"2016","unstructured":"Fantus, D., Rogers, N. M., Grahammer, F., Huber, T. B. & Thomson, A. W. Roles of mTOR complexes in the kidney: implications for renal disease and transplantation. Nat. Rev. Nephrol. 12, 587\u2013609 (2016).","journal-title":"Nat. Rev. Nephrol."},{"key":"BFnrneph2016182_CR137","doi-asserted-by":"publisher","first-page":"1196","DOI":"10.1016\/j.cell.2012.07.032","volume":"150","author":"L Bar-Peled","year":"2012","unstructured":"Bar-Peled, L., Schweitzer, L. D., Zoncu, R. & Sabatini, D. M. Ragulator is a GEF for the rag GTPases that signal amino acid levels to mTORC1. Cell 150, 1196\u20131208 (2012).","journal-title":"Cell"},{"key":"BFnrneph2016182_CR138","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1016\/j.cell.2010.02.024","volume":"141","author":"Y Sancak","year":"2010","unstructured":"Sancak, Y. et al. Ragulator-Rag complex targets mTORC1 to the lysosomal surface and is necessary for its activation by amino acids. Cell 141, 290\u2013303 (2010).","journal-title":"Cell"},{"key":"BFnrneph2016182_CR139","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1242\/jcs.125773","volume":"126","author":"M Laplante","year":"2013","unstructured":"Laplante, M. & Sabatini, D. M. Regulation of mTORC1 and its impact on gene expression at a glance. J. Cell Sci. 126, 1713\u20131719 (2013).","journal-title":"J. Cell Sci."},{"key":"BFnrneph2016182_CR140","doi-asserted-by":"publisher","first-page":"928","DOI":"10.4161\/auto.24371","volume":"9","author":"JA Martina","year":"2013","unstructured":"Martina, J. A. & Puertollano, R. RRAG GTPases link nutrient availability to gene expression, autophagy and lysosomal biogenesis. Autophagy 9, 928\u2013930 (2013).","journal-title":"Autophagy"},{"key":"BFnrneph2016182_CR141","doi-asserted-by":"publisher","first-page":"678","DOI":"10.1126\/science.1207056","volume":"334","author":"R Zoncu","year":"2011","unstructured":"Zoncu, R. et al. mTORC1 senses lysosomal amino acids through an inside-out mechanism that requires the vacuolar H(+)-ATPase. Science 334, 678\u2013683 (2011).","journal-title":"Science"},{"key":"BFnrneph2016182_CR142","doi-asserted-by":"publisher","first-page":"1678","DOI":"10.1681\/ASN.2014090937","volume":"27","author":"Z Andrzejewska","year":"2016","unstructured":"Andrzejewska, Z. et al. Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling. J. Am. Soc. Nephrol. 27, 1678\u20131688 (2016).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrneph2016182_CR143","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1007\/s10545-016-9919-z","volume":"39","author":"EA Ivanova","year":"2016","unstructured":"Ivanova, E. A. et al. Altered mTOR signalling in nephropathic cystinosis. J. Inherited Metabol. Dis. 39, 457\u2013464 (2016).","journal-title":"J. Inherited Metabol. Dis."},{"key":"BFnrneph2016182_CR144","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1016\/j.celrep.2014.05.035","volume":"8","author":"EM Gleixner","year":"2014","unstructured":"Gleixner, E. M. et al. V-ATPase\/mTOR signaling regulates megalin-mediated apical endocytosis. Cell Rep. 8, 10\u201319 (2014).","journal-title":"Cell Rep."},{"key":"BFnrneph2016182_CR145","doi-asserted-by":"publisher","first-page":"862","DOI":"10.1016\/j.kint.2015.12.045","volume":"89","author":"LR Rega","year":"2016","unstructured":"Rega, L. R. et al. Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells. Kidney Int. 89, 862\u2013873 (2016).","journal-title":"Kidney Int."},{"key":"BFnrneph2016182_CR146","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1083\/jcb.201208152","volume":"199","author":"FM Platt","year":"2012","unstructured":"Platt, F. M., Boland, B. & van der Spoel, A. C. The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction. J. Cell Biol. 199, 723\u2013734 (2012).","journal-title":"J. Cell Biol."},{"key":"BFnrneph2016182_CR147","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1016\/j.tcb.2012.05.006","volume":"22","author":"S Kaushik","year":"2012","unstructured":"Kaushik, S. & Cuervo, A. M. Chaperone-mediated autophagy: a unique way to enter the lysosome world. Trends Cell Biol. 22, 407\u2013417 (2012).","journal-title":"Trends Cell Biol."},{"key":"BFnrneph2016182_CR148","doi-asserted-by":"publisher","first-page":"4829","DOI":"10.1091\/mbc.e04-06-0477","volume":"15","author":"R Kiffin","year":"2004","unstructured":"Kiffin, R., Christian, C., Knecht, E. & Cuervo, A. M. Activation of chaperone-mediated autophagy during oxidative stress. Mol. Biol. Cell 15, 4829\u20134840 (2004).","journal-title":"Mol. Biol. Cell"},{"key":"BFnrneph2016182_CR149","doi-asserted-by":"publisher","first-page":"5805","DOI":"10.1073\/pnas.0507436103","volume":"103","author":"AC Massey","year":"2006","unstructured":"Massey, A. C., Kaushik, S., Sovak, G., Kiffin, R. & Cuervo, A. M. Consequences of the selective blockage of chaperone-mediated autophagy. Proc. Natl Acad. Sci. USA 103, 5805\u20135810 (2006).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrneph2016182_CR150","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1007\/s00431-005-1678-z","volume":"164","author":"C Balmer","year":"2005","unstructured":"Balmer, C. et al. Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. Eur. J. Pediatr. 164, 509\u2013514 (2005).","journal-title":"Eur. J. Pediatr."},{"key":"BFnrneph2016182_CR151","doi-asserted-by":"publisher","first-page":"1309","DOI":"10.2353\/ajpath.2006.050646","volume":"168","author":"M Fanin","year":"2006","unstructured":"Fanin, M. et al. Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. Am. J. Pathol. 168, 1309\u20131320 (2006).","journal-title":"Am. J. Pathol."},{"key":"BFnrneph2016182_CR152","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1055\/s-2003-43262","volume":"34","author":"J Horvath","year":"2003","unstructured":"Horvath, J. et al. Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease. Neuropediatrics 34, 270\u2013273 (2003).","journal-title":"Neuropediatrics"},{"key":"BFnrneph2016182_CR153","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1681\/ASN.2009070698","volume":"21","author":"WR Lima","year":"2010","unstructured":"Lima, W. R. et al. ZONAB promotes proliferation and represses differentiation of proximal tubule epithelial cells. J. Am. Soc. Nephrol. 21, 478\u2013488 (2010).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrneph2016182_CR154","volume-title":"Fifth International Cystinosis Research Symposium","author":"V Janssens","year":"2016","unstructured":"Janssens, V. et al. in Fifth International Cystinosis Research Symposium (Univ. of California, 2016)."},{"key":"BFnrneph2016182_CR155","doi-asserted-by":"publisher","first-page":"1131","DOI":"10.1681\/ASN.2014010058","volume":"25","author":"RL Chevalier","year":"2014","unstructured":"Chevalier, R. L. The proximal tubule in cystinosis: fight or flight? J. Am. Soc. Nephrol. 25, 1131\u20131132 (2014).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrneph2016182_CR156","doi-asserted-by":"publisher","first-page":"F145","DOI":"10.1152\/ajprenal.00164.2016","volume":"311","author":"RL Chevalier","year":"2016","unstructured":"Chevalier, R. L. The proximal tubule is the primary target of injury and progression of kidney disease: role of the glomerulotubular junction. Am. J. Physiol. Renal Physiol. 311, F145\u2013161 (2016).","journal-title":"Am. J. Physiol. Renal Physiol."},{"key":"BFnrneph2016182_CR157","first-page":"1678","volume":"6","author":"Z Andrzejewska","year":"2015","unstructured":"Andrzejewska, Z. et al. Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling. J. Am. Soc. Nephrol. 6, 1678\u20131688 (2015).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrneph2016182_CR158","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1016\/j.jpeds.2009.11.059","volume":"156","author":"R Dohil","year":"2010","unstructured":"Dohil, R. et al. Long-term treatment of cystinosis in children with twice-daily cysteamine. J. Pediatr. 156, 823\u2013827 (2010).","journal-title":"J. Pediatr."},{"key":"BFnrneph2016182_CR159","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1111\/j.1365-2125.2010.03721.x","volume":"70","author":"JA Gangoiti","year":"2010","unstructured":"Gangoiti, J. A. et al. Pharmacokinetics of enteric-coated cysteamine bitartrate in healthy adults: a pilot study. Br. J. Clin. Pharmacol. 70, 376\u2013382 (2010).","journal-title":"Br. J. Clin. Pharmacol."},{"key":"BFnrneph2016182_CR160","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1007\/s00467-012-2315-5","volume":"28","author":"R Dohil","year":"2013","unstructured":"Dohil, R. & Cabrera, B. L. Treatment of cystinosis with delayed-release cysteamine: 6-year follow-up. Pediatr. Nephrol. 28, 507\u2013510 (2013).","journal-title":"Pediatr. Nephrol."},{"key":"BFnrneph2016182_CR161","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/j.jpeds.2009.07.016","volume":"156","author":"R Dohil","year":"2010","unstructured":"Dohil, R. et al. Twice-daily cysteamine bitartrate therapy for children with cystinosis. J. Pediatr. 156, 71\u201373 (2010).","journal-title":"J. Pediatr."},{"key":"BFnrneph2016182_CR162","first-page":"323","volume":"38","author":"MM Goldenberg","year":"2013","unstructured":"Goldenberg, M. M. Pharmaceutical approval update. PT. 38, 323\u2013324 (2013).","journal-title":"PT."},{"key":"BFnrneph2016182_CR163","doi-asserted-by":"publisher","first-page":"528","DOI":"10.1016\/j.jpeds.2014.05.013","volume":"165","author":"CB Langman","year":"2014","unstructured":"Langman, C. B. et al. Quality of life is improved and kidney function preserved in patients with nephropathic cystinosis treated for 2 years with delayed-release cysteamine bitartrate. J. Pediatr. 165, 528\u2013533 (2014).","journal-title":"J. Pediatr."},{"key":"BFnrneph2016182_CR164","doi-asserted-by":"publisher","first-page":"1112","DOI":"10.2215\/CJN.12321211","volume":"7","author":"CB Langman","year":"2012","unstructured":"Langman, C. B. et al. A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety. Clin. J. Am. Soc. Nephrol. 7, 1112\u20131120 (2012).","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"BFnrneph2016182_CR165","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1001\/archopht.1990.01070070075038","volume":"108","author":"MI Kaiser-Kupfer","year":"1990","unstructured":"Kaiser-Kupfer, M. I. et al. A randomized placebo-controlled trial of cysteamine eye drops in nephropathic cystinosis. Arch. Ophthalmol. 108, 689\u2013693 (1990).","journal-title":"Arch. Ophthalmol."},{"key":"BFnrneph2016182_CR166","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1007\/s12038-010-0004-8","volume":"35","author":"A Kumar","year":"2010","unstructured":"Kumar, A. & Bachhawat, A. K. A futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase: the cause of cellular ATP depletion in nephrotic cystinosis? J. Biosci. 35, 21\u201325 (2010).","journal-title":"J. Biosci."},{"key":"BFnrneph2016182_CR167","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1038\/nchembio.1230","volume":"9","author":"J Anguiano","year":"2013","unstructured":"Anguiano, J. et al. Chemical modulation of chaperone-mediated autophagy by retinoic acid derivatives. Nat. Chem. Biol. 9, 374\u2013382 (2013).","journal-title":"Nat. Chem. Biol."},{"key":"BFnrneph2016182_CR168","doi-asserted-by":"publisher","first-page":"1481","DOI":"10.1093\/brain\/awu020","volume":"137","author":"A McNeill","year":"2014","unstructured":"McNeill, A. et al. Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. Brain 137, 1481\u20131495 (2014).","journal-title":"Brain"},{"key":"BFnrneph2016182_CR169","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1016\/j.devcel.2011.07.016","volume":"21","author":"DL Medina","year":"2011","unstructured":"Medina, D. L. et al. Transcriptional activation of lysosomal exocytosis promotes cellular clearance. Dev. Cell 21, 421\u2013430 (2011).","journal-title":"Dev. Cell"},{"key":"BFnrneph2016182_CR170","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1126\/science.1174447","volume":"325","author":"M Sardiello","year":"2009","unstructured":"Sardiello, M. et al. A gene network regulating lysosomal biogenesis and function. Science 325, 473\u2013477 (2009).","journal-title":"Science"},{"key":"BFnrneph2016182_CR171","doi-asserted-by":"publisher","first-page":"12535","DOI":"10.1523\/JNEUROSCI.1920-10.2010","volume":"30","author":"B Dehay","year":"2010","unstructured":"Dehay, B. et al. Pathogenic lysosomal depletion in Parkinson's disease. J. Neurosci. 30, 12535\u201312544 (2010).","journal-title":"J. Neurosci."},{"key":"BFnrneph2016182_CR172","doi-asserted-by":"publisher","first-page":"17054","DOI":"10.1074\/jbc.M114.555300","volume":"289","author":"M Moskot","year":"2014","unstructured":"Moskot, M. et al. The phytoestrogen genistein modulates lysosomal metabolism and transcription factor EB (TFEB) activation. J. Biol. Chem. 289, 17054\u201317069 (2014).","journal-title":"J. Biol. Chem."},{"key":"BFnrneph2016182_CR173","doi-asserted-by":"publisher","first-page":"846","DOI":"10.1038\/sj.ejhg.5201623","volume":"14","author":"E Piotrowska","year":"2006","unstructured":"Piotrowska, E. et al. Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses. Eur. J. Hum. Genet. 14, 846\u2013852 (2006).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFnrneph2016182_CR174","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1016\/j.curtheres.2008.04.002","volume":"69","author":"E Piotrowska","year":"2008","unstructured":"Piotrowska, E. et al. Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients. Curr. Ther. Res. Clin. Exp. 69, 166\u2013179 (2008).","journal-title":"Curr. Ther. Res. Clin. Exp."},{"key":"BFnrneph2016182_CR175","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/j.vph.2016.02.007","volume":"81","author":"KY Lee","year":"2016","unstructured":"Lee, K. Y., Kim, J. R. & Choi, H. C. Genistein-induced LKB1-AMPK activation inhibits senescence of VSMC through autophagy induction. Vascul. Pharmacol. 81, 75\u201382 (2016).","journal-title":"Vascul. Pharmacol."},{"key":"BFnrneph2016182_CR176","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1038\/mt.2012.214","volume":"21","author":"F Harrison","year":"2013","unstructured":"Harrison, F. et al. Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis. Mol. Ther. 21, 433\u2013444 (2013).","journal-title":"Mol. Ther."},{"key":"BFnrneph2016182_CR177","doi-asserted-by":"publisher","first-page":"2542","DOI":"10.1182\/blood-2009-03-213934","volume":"114","author":"K Syres","year":"2009","unstructured":"Syres, K. et al. Successful treatment of the murine model of cystinosis using bone marrow cell transplantation. Blood 114, 2542\u20132552 (2009).","journal-title":"Blood"},{"key":"BFnrneph2016182_CR178","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1002\/iub.284","volume":"62","author":"M Beck","year":"2010","unstructured":"Beck, M. Therapy for lysosomal storage disorders. IUBMB Life 62, 33\u201340 (2010).","journal-title":"IUBMB Life"},{"key":"BFnrneph2016182_CR179","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1002\/stem.1835","volume":"33","author":"S Naphade","year":"2015","unstructured":"Naphade, S. et al. Brief reports: lysosomal cross-correction by hematopoietic stem cell-derived macrophages via tunneling nanotubes. Stem Cells 33, 301\u2013309 (2015).","journal-title":"Stem Cells"},{"key":"BFnrneph2016182_CR180","doi-asserted-by":"publisher","first-page":"e42840","DOI":"10.1371\/journal.pone.0042840","volume":"7","author":"DM Iglesias","year":"2012","unstructured":"Iglesias, D. M. et al. Stem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro. PLoS ONE 7, e42840 (2012).","journal-title":"PLoS ONE"},{"key":"BFnrneph2016182_CR181","doi-asserted-by":"publisher","first-page":"8476","DOI":"10.4049\/jimmunol.177.12.8476","volume":"177","author":"B Onfelt","year":"2006","unstructured":"Onfelt, B. et al. Structurally distinct membrane nanotubes between human macrophages support long-distance vesicular traffic or surfing of bacteria. J. Immunol. 177, 8476\u20138483 (2006).","journal-title":"J. Immunol."},{"key":"BFnrneph2016182_CR182","doi-asserted-by":"publisher","first-page":"72","DOI":"10.3389\/fphys.2012.00072","volume":"3","author":"L Marzo","year":"2012","unstructured":"Marzo, L., Gousset, K. & Zurzolo, C. Multifaceted roles of tunneling nanotubes in intercellular communication. Frontiers Physiol. 3, 72 (2012).","journal-title":"Frontiers Physiol."},{"key":"BFnrneph2016182_CR183","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.ymeth.2010.04.002","volume":"53","author":"S Sowinski","year":"2011","unstructured":"Sowinski, S., Alakoskela, J. M., Jolly, C. & Davis, D. M. Optimized methods for imaging membrane nanotubes between T cells and trafficking of HIV-1. Methods 53, 27\u201333 (2011).","journal-title":"Methods"},{"key":"BFnrneph2016182_CR184","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1097\/01.mnh.0000437332.31418.e0","volume":"23","author":"BD Humphreys","year":"2014","unstructured":"Humphreys, B. D. Kidney injury, stem cells and regeneration. Curr. Opin. Nephrol. Hypertens. 23, 25\u201331 (2014).","journal-title":"Curr. Opin. Nephrol. Hypertens."},{"key":"BFnrneph2016182_CR185","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1007\/s00467-011-1789-x","volume":"26","author":"BA Yeagy","year":"2011","unstructured":"Yeagy, B. A. & Cherqui, S. Kidney repair and stem cells: a complex and controversial process. Pediatr. Nephrol. 26, 1427\u20131434 (2011).","journal-title":"Pediatr. Nephrol."},{"key":"BFnrneph2016182_CR186","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1038\/ki.1991.50","volume":"39","author":"DR Abrahamson","year":"1991","unstructured":"Abrahamson, D. R. & Leardkamolkarn, V. Development of kidney tubular basement membranes. Kidney Int. 39, 382\u2013393 (1991).","journal-title":"Kidney Int."},{"key":"BFnrneph2016182_CR187","doi-asserted-by":"publisher","first-page":"64","DOI":"10.4161\/cam.22479","volume":"7","author":"W Halfter","year":"2013","unstructured":"Halfter, W. et al. Protein composition and biomechanical properties of in vivo-derived basement membranes. Cell Adhesion Migr. 7, 64\u201371 (2013).","journal-title":"Cell Adhesion Migr."},{"key":"BFnrneph2016182_CR188","doi-asserted-by":"publisher","first-page":"7214","DOI":"10.1167\/iovs.15-17107","volume":"56","author":"CJ Rocca","year":"2015","unstructured":"Rocca, C. J. et al. Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation. Investigative Ophthalmol. Visual Sci. 56, 7214\u20137223 (2015).","journal-title":"Investigative Ophthalmol. Visual Sci."},{"key":"BFnrneph2016182_CR189","doi-asserted-by":"publisher","first-page":"1363","DOI":"10.1210\/en.2015-1762","volume":"56","author":"HP Gaide Chevronnay","year":"2016","unstructured":"Gaide Chevronnay, H. P. et al. Hematopoietic stem cell transplantation can normalize thyroid function in a cystinosis mouse model. Endocrinology 56, 1363\u20131371 (2016).","journal-title":"Endocrinology"},{"key":"BFnrneph2016182_CR190","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1038\/sj.ki.5001567","volume":"70","author":"TJ Soos","year":"2006","unstructured":"Soos, T. J. et al. CX3CR1+ interstitial dendritic cells form a contiguous network throughout the entire kidney. Kidney Int. 70, 591\u2013596 (2006).","journal-title":"Kidney Int."},{"key":"BFnrneph2016182_CR191","doi-asserted-by":"publisher","first-page":"1233158","DOI":"10.1126\/science.1233158","volume":"341","author":"A Biffi","year":"2013","unstructured":"Biffi, A. et al. Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science 341, 1233158 (2013).","journal-title":"Science"},{"key":"BFnrneph2016182_CR192","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1016\/B978-0-12-386509-0.00010-7","volume":"507","author":"N Cartier","year":"2012","unstructured":"Cartier, N. et al. Lentiviral hematopoietic cell gene therapy for X-linked adrenoleukodystrophy. Methods Enzymol. 507, 187\u2013198 (2012).","journal-title":"Methods Enzymol."},{"key":"BFnrneph2016182_CR193","doi-asserted-by":"publisher","first-page":"2898","DOI":"10.3390\/v5112898","volume":"5","author":"DL DiGiusto","year":"2013","unstructured":"DiGiusto, D. L. et al. Development of hematopoietic stem cell based gene therapy for HIV-1 infection: considerations for proof of concept studies and translation to standard medical practice. Viruses 5, 2898\u20132919 (2013).","journal-title":"Viruses"},{"key":"BFnrneph2016182_CR194","doi-asserted-by":"publisher","first-page":"1314","DOI":"10.2174\/15665240113139990064","volume":"13","author":"E Drakopoulou","year":"2013","unstructured":"Drakopoulou, E., Papanikolaou, E., Georgomanoli, M. & Anagnou, N. P. Towards more successful gene therapy clinical trials for beta-thalassemia. Curr. Mol. Med. 13, 1314\u20131330 (2013).","journal-title":"Curr. Mol. Med."},{"key":"BFnrneph2016182_CR195","doi-asserted-by":"publisher","first-page":"963","DOI":"10.1038\/gt.2013.21","volume":"20","author":"L Zhang","year":"2013","unstructured":"Zhang, L., Thrasher, A. J. & Gaspar, H. B. Current progress on gene therapy for primary immunodeficiencies. Gene Ther. 20, 963\u2013969 (2013).","journal-title":"Gene Ther."},{"key":"BFnrneph2016182_CR196","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1083\/jcb.110.2.327","volume":"110","author":"RL Pisoni","year":"1990","unstructured":"Pisoni, R. L., Acker, T. L., Lisowski, K. M., Lemons, R. M. & Thoene, J. G. A cysteine-specific lysosomal transport system provides a major route for the delivery of thiol to human fibroblast lysosomes: possible role in supporting lysosomal proteolysis. J. Cell Biol. 110, 327\u2013335 (1990).","journal-title":"J. Cell Biol."},{"key":"BFnrneph2016182_CR197","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1042\/bj2370271","volume":"237","author":"JB Lloyd","year":"1986","unstructured":"Lloyd, J. B. Disulphide reduction in lysosomes. The role of cysteine. Biochem. J. 237, 271\u2013272 (1986).","journal-title":"Biochem. J."},{"key":"BFnrneph2016182_CR198","doi-asserted-by":"publisher","first-page":"979","DOI":"10.1042\/bj2860979","volume":"286","author":"JB Lloyd","year":"1992","unstructured":"Lloyd, J. B. Lysosomal handling of cystine residues: stoichiometry of cysteine involvement. Biochem. J. 286, 979\u2013980 (1992).","journal-title":"Biochem. J."},{"key":"BFnrneph2016182_CR199","doi-asserted-by":"publisher","first-page":"1179","DOI":"10.1074\/jbc.270.3.1179","volume":"270","author":"RL Pisoni","year":"1995","unstructured":"Pisoni, R. L., Park, G. Y., Velilla, V. Q. & Thoene, J. G. Detection and characterization of a transport system mediating cysteamine entry into human fibroblast lysosomes. Specificity for aminoethylthiol and aminoethylsulfide derivatives. J. Biol. Chem. 270, 1179\u20131184 (1995).","journal-title":"J. Biol. Chem."}],"container-title":["Nature Reviews Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/nrneph.2016.182.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nrneph.2016.182","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nrneph.2016.182.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T18:43:23Z","timestamp":1749840203000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/nrneph.2016.182"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,12,19]]},"references-count":199,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,2]]}},"alternative-id":["BFnrneph2016182"],"URL":"https:\/\/doi.org\/10.1038\/nrneph.2016.182","relation":{},"ISSN":["1759-5061","1759-507X"],"issn-type":[{"value":"1759-5061","type":"print"},{"value":"1759-507X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,12,19]]},"assertion":[{"value":"19 December 2016","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing financial interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}