{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T07:50:52Z","timestamp":1769845852553,"version":"3.49.0"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2018,11,9]],"date-time":"2018-11-09T00:00:00Z","timestamp":1541721600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100005674","name":"Cystinosis Research Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100005674","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000191","name":"Kidney Foundation of Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000191","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000156","name":"Fonds de Recherche du Qu\u00e9bec - Sant\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005674","name":"Cystinosis Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005674","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2019,5]]},"DOI":"10.1007\/s00467-018-4094-0","type":"journal-article","created":{"date-parts":[[2018,11,9]],"date-time":"2018-11-09T09:34:55Z","timestamp":1541756095000},"page":"873-881","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis"],"prefix":"10.1007","volume":"34","author":[{"given":"Emma J.","family":"Brasell","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"LeeLee","family":"Chu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reyhan","family":"El Kares","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jung Hwa","family":"Seo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robin","family":"Loesch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana M.","family":"Iglesias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Goodyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,11,9]]},"reference":[{"key":"4094_CR1","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1038\/ng0498-319","volume":"18","author":"M Town","year":"1998","unstructured":"Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van\u2019t Hoff W, Antignac C (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 18:319\u2013324. \n                    https:\/\/doi.org\/10.1038\/ng0498-319","journal-title":"Nat Genet"},{"key":"4094_CR2","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1042\/bj2280545","volume":"228","author":"WA Gahl","year":"1985","unstructured":"Gahl WA, Tietze F, Butler JD, Schulman JD (1985) Cysteamine depletes cystinotic leucocyte granular fractions of cystine by the mechanism of disulphide interchange. Biochem J 228:545\u2013550","journal-title":"Biochem J"},{"key":"4094_CR3","doi-asserted-by":"publisher","first-page":"E3434","DOI":"10.1073\/pnas.1211198109","volume":"109","author":"A Jezegou","year":"2012","unstructured":"Jezegou A, Llinares E, Anne C, Kieffer-Jaquinod S, O\u2019Regan S, Aupetit J, Chabli A, Sagne C, Debacker C, Chadefaux-Vekemans B, Journet A, Andre B, Gasnier B (2012) Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy. Proc Natl Acad Sci U S A 109:E3434\u2013E3443. \n                    https:\/\/doi.org\/10.1073\/pnas.1211198109","journal-title":"Proc Natl Acad Sci U S A"},{"key":"4094_CR4","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1093\/ndt\/gfu329","volume":"30","author":"G Ariceta","year":"2015","unstructured":"Ariceta G, Lara E, Camacho JA, Oppenheimer F, Vara J, Santos F, Munoz MA, Cantarell C, Gil Calvo M, Romero R, Valenciano B, Garcia-Nieto V, Sanahuja MJ, Crespo J, Justa ML, Urisarri A, Bedoya R, Bueno A, Daza A, Bravo J, Llamas F, Jimenez Del Cerro LA (2015) Cysteamine (Cystagon\u00ae) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults. Nephrol Dial Transplant 30:475\u2013480. \n                    https:\/\/doi.org\/10.1093\/ndt\/gfu329","journal-title":"Nephrol Dial Transplant"},{"key":"4094_CR5","doi-asserted-by":"publisher","first-page":"e0120998","DOI":"10.1371\/journal.pone.0120998","volume":"10","author":"EA Ivanova","year":"2015","unstructured":"Ivanova EA, De Leo MG, Van Den Heuvel L, Pastore A, Dijkman H, De Matteis MA, Levtchenko EN (2015) Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin. PLoS One 10:e0120998. \n                    https:\/\/doi.org\/10.1371\/journal.pone.0120998","journal-title":"PLoS One"},{"key":"4094_CR6","doi-asserted-by":"publisher","first-page":"1256","DOI":"10.1681\/ASN.2013060598","volume":"25","author":"HP Gaide Chevronnay","year":"2014","unstructured":"Gaide Chevronnay HP, Janssens V, Van Der Smissen P, N\u2019Kuli F, Nevo N, Guiot Y, Levtchenko E, Marbaix E, Pierreux CE, Cherqui S, Antignac C, Courtoy PJ (2014) Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys. J Am Soc Nephrol 25:1256\u20131269. \n                    https:\/\/doi.org\/10.1681\/ASN.2013060598","journal-title":"J Am Soc Nephrol"},{"key":"4094_CR7","doi-asserted-by":"publisher","first-page":"2137","DOI":"10.1007\/s00467-012-2227-4","volume":"27","author":"P Sansanwal","year":"2012","unstructured":"Sansanwal P, Sarwal MM (2012) p62\/SQSTM1 prominently accumulates in renal proximal tubules in nephropathic cystinosis. Pediatr Nephrol 27:2137\u20132144. \n                    https:\/\/doi.org\/10.1007\/s00467-012-2227-4","journal-title":"Pediatr Nephrol"},{"key":"4094_CR8","doi-asserted-by":"publisher","first-page":"1352","DOI":"10.1086\/302118","volume":"63","author":"V Shotelersuk","year":"1998","unstructured":"Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I, Guo J, Thoene J, Gahl WA (1998) CTNS mutations in an American-based population of cystinosis patients. Am J Hum Genet 63:1352\u20131362. \n                    https:\/\/doi.org\/10.1086\/302118","journal-title":"Am J Hum Genet"},{"key":"4094_CR9","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, Stoddard K, Podolsky L, Orrbine E, McLaine P, Town M, Goodyer P, MacKenzie A, Heick H (1999) Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation. Eur J Hum Genet 7:671\u2013678. \n                    https:\/\/doi.org\/10.1038\/sj.ejhg.5200349","journal-title":"Eur J Hum Genet"},{"key":"4094_CR10","doi-asserted-by":"publisher","first-page":"6265","DOI":"10.1093\/nar\/13.17.6265","volume":"13","author":"JF Burke","year":"1985","unstructured":"Burke JF, Mogg AE (1985) Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin. Nucleic Acids Res 13:6265\u20136272","journal-title":"Nucleic Acids Res"},{"key":"4094_CR11","doi-asserted-by":"publisher","first-page":"F1101","DOI":"10.1152\/ajprenal.00413.2007","volume":"294","author":"A Taranta","year":"2008","unstructured":"Taranta A, Petrini S, Palma A, Mannucci L, Wilmer MJ, De Luca V, Diomedi-Camassei F, Corallini S, Bellomo F, van den Heuvel LP, Levtchenko EN, Emma F (2008) Identification and subcellular localization of a new cystinosin isoform. Am J Physiol Ren Physiol 294:F1101\u2013F1108. \n                    https:\/\/doi.org\/10.1152\/ajprenal.00413.2007","journal-title":"Am J Physiol Ren Physiol"},{"key":"4094_CR12","doi-asserted-by":"publisher","first-page":"1112","DOI":"10.2215\/CJN.12321211","volume":"7","author":"CB Langman","year":"2012","unstructured":"Langman CB, Greenbaum LA, Sarwal M, Grimm P, Niaudet P, Deschenes G, Cornelissen E, Morin D, Cochat P, Matossian D, Gaillard S, Bagger MJ, Rioux P (2012) 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. \n                    https:\/\/doi.org\/10.2215\/cjn.12321211","journal-title":"Clin J Am Soc Nephrol"},{"key":"4094_CR13","doi-asserted-by":"publisher","first-page":"8860","DOI":"10.1073\/pnas.87.22.8860","volume":"87","author":"YX Feng","year":"1990","unstructured":"Feng YX, Copeland TD, Oroszlan S, Rein A, Levin JG (1990) Identification of amino acids inserted during suppression of UAA and UGA termination codons at the gag-pol junction of Moloney murine leukemia virus. Proc Natl Acad Sci U S A 87:8860\u20138863","journal-title":"Proc Natl Acad Sci U S A"},{"key":"4094_CR14","doi-asserted-by":"publisher","first-page":"10061","DOI":"10.1093\/nar\/gku663","volume":"42","author":"S Blanchet","year":"2014","unstructured":"Blanchet S, Cornu D, Argentini M, Namy O (2014) New insights into the incorporation of natural suppressor tRNAs at stop codons in Saccharomyces cerevisiae. Nucleic Acids Res 42:10061\u201310072. \n                    https:\/\/doi.org\/10.1093\/nar\/gku663","journal-title":"Nucleic Acids Res"},{"key":"4094_CR15","doi-asserted-by":"publisher","first-page":"12508","DOI":"10.1073\/pnas.1605336113","volume":"113","author":"B Roy","year":"2016","unstructured":"Roy B, Friesen WJ, Tomizawa Y, Leszyk JD, Zhuo J, Johnson B, Dakka J, Trotta CR, Xue X, Mutyam V, Keeling KM, Mobley JA, Rowe SM, Bedwell DM, Welch EM, Jacobson A (2016) Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression. Proc Natl Acad Sci U S A 113:12508\u201312513. \n                    https:\/\/doi.org\/10.1073\/pnas.1605336113","journal-title":"Proc Natl Acad Sci U S A"},{"key":"4094_CR16","doi-asserted-by":"publisher","first-page":"3116","DOI":"10.1093\/hmg\/ddx196","volume":"26","author":"X Xue","year":"2017","unstructured":"Xue X, Mutyam V, Thakerar A, Mobley J, Bridges RJ, Rowe SM, Keeling KM, Bedwell DM (2017) Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences. Hum Mol Genet 26:3116\u20133129. \n                    https:\/\/doi.org\/10.1093\/hmg\/ddx196","journal-title":"Hum Mol Genet"},{"key":"4094_CR17","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1056\/NEJM198704163161602","volume":"316","author":"WA Gahl","year":"1987","unstructured":"Gahl WA, Reed GF, Thoene JG, Schulman JD, Rizzo WB, Jonas AJ, Denman DW, Schlesselman JJ, Corden BJ, Schneider JA (1987) Cysteamine therapy for children with nephropathic cystinosis. N Engl J Med 316:971\u2013977. \n                    https:\/\/doi.org\/10.1056\/nejm198704163161602","journal-title":"N Engl J Med"},{"key":"4094_CR18","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 WA, Balog JZ, Kleta R (2007) Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med 147:242\u2013250","journal-title":"Ann Intern Med"},{"key":"4094_CR19","doi-asserted-by":"publisher","first-page":"1678","DOI":"10.1681\/ASN.2014090937","volume":"27","author":"Z Andrzejewska","year":"2016","unstructured":"Andrzejewska Z, Nevo N, Thomas L, Chhuon C, Bailleux A, Chauvet V, Courtoy PJ, Chol M, Guerrera IC, Antignac C (2016) 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. \n                    https:\/\/doi.org\/10.1681\/asn.2014090937","journal-title":"J Am Soc Nephrol"},{"key":"4094_CR20","doi-asserted-by":"publisher","first-page":"862","DOI":"10.1016\/j.kint.2015.12.045","volume":"89","author":"LR Rega","year":"2016","unstructured":"Rega LR, Polishchuk E, Montefusco S, Napolitano G, Tozzi G, Zhang J, Bellomo F, Taranta A, Pastore A, Polishchuk R, Piemonte F, Medina DL, Catz SD, Ballabio A, Emma F (2016) Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells. Kidney Int 89:862\u2013873. \n                    https:\/\/doi.org\/10.1016\/j.kint.2015.12.045","journal-title":"Kidney Int"},{"key":"4094_CR21","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1006\/mgme.2001.3272","volume":"75","author":"A Helip-Wooley","year":"2002","unstructured":"Helip-Wooley A, Park MA, Lemons RM, Thoene JG (2002) Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro. Mol Genet Metab 75:128\u2013133. \n                    https:\/\/doi.org\/10.1006\/mgme.2001.3272","journal-title":"Mol Genet Metab"},{"key":"4094_CR22","doi-asserted-by":"publisher","first-page":"3735","DOI":"10.1016\/j.bmc.2010.03.060","volume":"18","author":"I Nudelman","year":"2010","unstructured":"Nudelman I, Glikin D, Smolkin B, Hainrichson M, Belakhov V, Baasov T (2010) Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations. Bioorg Med Chem 18:3735\u20133746. \n                    https:\/\/doi.org\/10.1016\/j.bmc.2010.03.060","journal-title":"Bioorg Med Chem"},{"key":"4094_CR23","doi-asserted-by":"publisher","first-page":"2836","DOI":"10.1021\/jm801640k","volume":"52","author":"I Nudelman","year":"2009","unstructured":"Nudelman I, Rebibo-Sabbah A, Cherniavsky M, Belakhov V, Hainrichson M, Chen F, Schacht J, Pilch DS, Ben-Yosef T, Baasov T (2009) Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. J Med Chem 52:2836\u20132845. \n                    https:\/\/doi.org\/10.1021\/jm801640k","journal-title":"J Med Chem"},{"key":"4094_CR24","doi-asserted-by":"publisher","first-page":"6310","DOI":"10.1016\/j.bmcl.2006.09.013","volume":"16","author":"I Nudelman","year":"2006","unstructured":"Nudelman I, Rebibo-Sabbah A, Shallom-Shezifi D, Hainrichson M, Stahl I, Ben-Yosef T, Baasov T (2006) Redesign of aminoglycosides for treatment of human genetic diseases caused by premature stop mutations. Bioorg Med Chem Lett 16:6310\u20136315. \n                    https:\/\/doi.org\/10.1016\/j.bmcl.2006.09.013","journal-title":"Bioorg Med Chem Lett"},{"key":"4094_CR25","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1080\/15476286.2017.1285480","volume":"14","author":"L Bidou","year":"2017","unstructured":"Bidou L, Bugaud O, Belakhov V, Baasov T, Namy O (2017) Characterization of new-generation aminoglycoside promoting premature termination codon readthrough in cancer cells. RNA Biol 14:378\u2013388. \n                    https:\/\/doi.org\/10.1080\/15476286.2017.1285480","journal-title":"RNA Biol"},{"key":"4094_CR26","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1016\/j.ymgme.2011.10.005","volume":"105","author":"D Wang","year":"2012","unstructured":"Wang D, Belakhov V, Kandasamy J, Baasov T, Li SC, Li YT, Bedwell DM, Keeling KM (2012) The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse. Mol Genet Metab 105:116\u2013125. \n                    https:\/\/doi.org\/10.1016\/j.ymgme.2011.10.005","journal-title":"Mol Genet Metab"},{"key":"4094_CR27","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1165\/rcmb.2013-0282OC","volume":"50","author":"X Xue","year":"2014","unstructured":"Xue X, Mutyam V, Tang L, Biswas S, Du M, Jackson LA, Dai Y, Belakhov V, Shalev M, Chen F, Schacht J, JB R, Baasov T, Hong J, Bedwell DM, Rowe SM (2014) Synthetic aminoglycosides efficiently suppress cystic fibrosis transmembrane conductance regulator nonsense mutations and are enhanced by ivacaftor. Am J Respir Cell Mol Biol 50:805\u2013816. \n                    https:\/\/doi.org\/10.1165\/rcmb.2013-0282OC","journal-title":"Am J Respir Cell Mol Biol"},{"key":"4094_CR28","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1002\/path.1700650227","volume":"65","author":"RD Clay","year":"1953","unstructured":"Clay RD, Darmady EM, Hawkins M (1953) The nature of the renal lesion in the Fanconi syndrome. J Pathol Bacteriol 65:551\u2013558","journal-title":"J Pathol Bacteriol"},{"key":"4094_CR29","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1038\/ki.1979.45","volume":"15","author":"FJ Silverblatt","year":"1979","unstructured":"Silverblatt FJ, Kuehn C (1979) Autoradiography of gentamicin uptake by the rat proximal tubule cell. Kidney Int 15:335\u2013345","journal-title":"Kidney Int"},{"key":"4094_CR30","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1038\/ki.1981.50","volume":"19","author":"A Vandewalle","year":"1981","unstructured":"Vandewalle A, Farman N, Morin JP, Fillastre JP, Hatt PY, Bonvalet JP (1981) Gentamicin incorporation along the nephron: autoradiographic study on isolated tubules. Kidney Int 19:529\u2013539","journal-title":"Kidney Int"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-018-4094-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00467-018-4094-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-018-4094-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,3]],"date-time":"2020-04-03T09:25:04Z","timestamp":1585905904000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00467-018-4094-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11,9]]},"references-count":30,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["4094"],"URL":"https:\/\/doi.org\/10.1007\/s00467-018-4094-0","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,11,9]]},"assertion":[{"value":"30 July 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 September 2018","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 September 2018","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 November 2018","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"All primary cell lines used in this article were subject to IRB approval from the RI-MUHC REB (protocol: 2018-2922).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics compliance"}},{"value":"The authors declare that they have no conflicts of interest.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}