{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T04:53:28Z","timestamp":1791348808993,"version":"4.3.1"},"reference-count":62,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2012,10,2]],"date-time":"2012-10-02T00:00:00Z","timestamp":1349136000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/3.0\/"},{"start":{"date-parts":[[2012,10,2]],"date-time":"2012-10-02T00:00:00Z","timestamp":1349136000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"name":"Funded Access"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["EMBO Mol Med"],"published-print":{"date-parts":[[2012,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Translational read\u2010through\u2010inducing drugs (TRIDs) promote read\u2010through of nonsense mutations, placing them in the spotlight of current gene\u2010based therapeutic research. Here, we compare for the first time the relative efficacies of new\u2010generation aminoglycosides NB30, NB54 and the chemical compound PTC124 on retinal toxicity and read\u2010through efficacy of a nonsense mutation in the\n                    <jats:italic>USH1C<\/jats:italic>\n                    gene, which encodes the scaffold protein harmonin. This mutation causes the human Usher syndrome, the most common form of inherited deaf\u2010blindness. We quantify read\u2010through efficacy of the TRIDs in cell culture and show the restoration of harmonin function. We do not observe significant differences in the read\u2010through efficacy of the TRIDs in retinal cultures; however, we show an excellent biocompatibility in retinal cultures with read\u2010through\n                    <jats:italic>versus<\/jats:italic>\n                    toxicity evidently superior for NB54 and PTC124. In addition,\n                    <jats:italic>in vivo<\/jats:italic>\n                    administration of NB54 and PTC124 induced recovery of the full\u2010length harmonin a1 with the same efficacy. The high biocompatibilities combined with the sustained read\u2010through efficacies of these drugs emphasize the potential of NB54 and PTC124 in treating nonsense mutation\u2010based retinal disorders.\n                  <\/jats:p>","DOI":"10.1002\/emmm.201201438","type":"journal-article","created":{"date-parts":[[2012,10,2]],"date-time":"2012-10-02T03:40:24Z","timestamp":1349149224000},"page":"1186-1199","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":101,"title":["A comparative evaluation of NB30, NB54 and PTC124 in translational read\u2010through efficacy for treatment of an USH1C nonsense mutation"],"prefix":"10.1038","volume":"4","author":[{"given":"Tobias","family":"Goldmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nora","family":"Overlack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabian","family":"M\u00f6ller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valery","family":"Belakhov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiel","family":"van Wyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timor","family":"Baasov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe","family":"Wolfrum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerstin","family":"Nagel\u2010Wolfrum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,10,2]]},"reference":[{"key":"BFEMMM201201438_CR1","first-page":"3921","volume":"14","author":"A Adato","year":"2005","unstructured":"Adato A, Lefevre G, Delprat B, Michel V, Michalski N, Chardenoux S, Weil D, El Amraoui A, Petit C (2005) Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Hum. Mol Genet 14: 3921\u20103932","journal-title":"Mol Genet"},{"key":"BFEMMM201201438_CR2","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1007\/s00439-002-0732-4","volume":"110","author":"ZM Ahmed","year":"2002","unstructured":"Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S et al (2002) Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet 110: 527\u2010531","journal-title":"Hum Genet"},{"key":"BFEMMM201201438_CR3","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/79178","volume":"26","author":"M Bitner\u2010Glindzicz","year":"2000","unstructured":"Bitner\u2010Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth\u2010Lavi J, Cosgrove KE, Shepherd RM et al (2000) A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet 26: 56\u201060","journal-title":"Nat Genet"},{"key":"BFEMMM201201438_CR4","doi-asserted-by":"crossref","first-page":"6689","DOI":"10.1093\/emboj\/cdf689","volume":"21","author":"B Bo\u00ebda","year":"2002","unstructured":"Bo\u00ebda B, El Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J et al (2002) Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J 21: 6689\u20106699","journal-title":"EMBO J"},{"key":"BFEMMM201201438_CR5","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/s00109-010-0704-4","volume":"89","author":"C Brendel","year":"2011","unstructured":"Brendel C, Belakhov V, Werner H, Wegener E, Gartner J, Nudelman I, Baasov T, Huppke P (2011) Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model. J Mol Med 89: 389\u2010398","journal-title":"J Mol Med"},{"key":"BFEMMM201201438_CR6","doi-asserted-by":"crossref","first-page":"2064","DOI":"10.1073\/pnas.0711795105","volume":"105","author":"M Du","year":"2008","unstructured":"Du M, Liu X, Welch EM, Hirawat S, Peltz SW, Bedwell DM (2008) PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR\u2010G542X nonsense allele in a CF mouse model. Proc Natl Acad Sci USA 105: 2064\u20102069","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFEMMM201201438_CR7","first-page":"1539","volume":"13","author":"I Ebermann","year":"2007","unstructured":"Ebermann I, Wilke R, Lauhoff T, Lubben D, Zrenner E, Bolz HJ (2007) Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome. Mol Vis 13: 1539\u20101547","journal-title":"Mol Vis"},{"key":"BFEMMM201201438_CR8","doi-asserted-by":"crossref","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\u2010pol junction of Moloney murine leukemia virus. Proc Natl Acad Sci USA 87: 8860\u20108863","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFEMMM201201438_CR9","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1177\/0883073810371129","volume":"25","author":"RS Finkel","year":"2010","unstructured":"Finkel RS (2010) Read\u2010through strategies for suppression of nonsense mutations in Duchenne\/Becker muscular dystrophy: aminoglycosides and ataluren (PTC124). J Child Neurol 25: 1158\u20101164","journal-title":"J Child Neurol"},{"key":"BFEMMM201201438_CR10","doi-asserted-by":"crossref","first-page":"4228","DOI":"10.1002\/pmic.200700038","volume":"7","author":"CJ Gloeckner","year":"2007","unstructured":"Gloeckner CJ, Boldt K, Schumacher A, Roepman R, Ueffing M (2007) A novel tandem affinity purification strategy for the efficient isolation and characterisation of native protein complexes. Proteomics 7: 4228\u20104234","journal-title":"Proteomics"},{"key":"BFEMMM201201438_CR11","doi-asserted-by":"crossref","first-page":"6671","DOI":"10.1167\/iovs.10-5741","volume":"51","author":"T Goldmann","year":"2010","unstructured":"Goldmann T, Rebibo\u2010Sabbah A, Overlack N, Nudelman I, Belakhov V, Baasov T, Ben Yosef T, Wolfrum U, Nagel\u2010Wolfrum K (2010) Beneficial read\u2010through of a USH1C nonsense mutation by designed aminoglycoside NB30 in the retina. Invest Ophthalmol Vis Sci 51: 6671\u20106680","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFEMMM201201438_CR12","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1089\/hum.2010.067","volume":"22","author":"T Goldmann","year":"2011","unstructured":"Goldmann T, Overlack N, Wolfrum U, Nagel\u2010Wolfrum K (2011) PTC124\u2010mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C. Hum Gene Ther 22: 537\u2010547","journal-title":"Hum Gene Ther"},{"key":"BFEMMM201201438_CR13","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1159\/000325730","volume":"47","author":"K Gregory\u2010Evans","year":"2011","unstructured":"Gregory\u2010Evans K, Po K, Chang F, Gregory\u2010Evans CY (2011) Pharmacological enhancement of ex vivo gene therapy neuroprotection in a rodent model of retinal degeneration. Ophthalmic Res 47: 32\u201038","journal-title":"Ophthalmic Res"},{"key":"BFEMMM201201438_CR14","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.exer.2008.05.016","volume":"87","author":"K Guerin","year":"2008","unstructured":"Guerin K, Gregory\u2010Evans CY, Hodges MD, Moosajee M, Mackay DS, Gregory\u2010Evans K, Flannery JG (2008) Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa. Exp Eye Res 87: 197\u2010207","journal-title":"Exp Eye Res"},{"key":"BFEMMM201201438_CR15","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1039\/B712690P","volume":"6","author":"M Hainrichson","year":"2008","unstructured":"Hainrichson M, Nudelman I, Baasov T (2008) Designer aminoglycosides: the race to develop improved antibiotics and compounds for the treatment of human genetic diseases. Org Biomol Chem 6: 227\u2010239","journal-title":"Org Biomol Chem"},{"key":"BFEMMM201201438_CR16","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/1096-9861(20000814)424:1<1::AID-CNE1>3.0.CO;2-V","volume":"424","author":"S Haverkamp","year":"2000","unstructured":"Haverkamp S, Wassle H (2000) Immunocytochemical analysis of the mouse retina. J Comp Neurol 424: 1\u201023","journal-title":"J Comp Neurol"},{"key":"BFEMMM201201438_CR17","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1177\/0091270006297140","volume":"47","author":"S Hirawat","year":"2007","unstructured":"Hirawat S, Welch EM, Elfring GL, Northcutt VJ, Paushkin S, Hwang S, Leonard EM, Almstead NG, Ju W, Peltz SW et al (2007) Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single\u2010 and multiple\u2010dose administration to healthy male and female adult volunteers. J Clin Pharmacol 47: 430\u2010444","journal-title":"J Clin Pharmacol"},{"key":"BFEMMM201201438_CR18","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1039\/c0md00195c","volume":"2","author":"J Kandasamy","year":"2011","unstructured":"Kandasamy J, Atia\u2010Glikin D, Belakhov V, Baasov T (2011) Repairing faulty genes by aminoglycosides: identification of new pharmacophore with enhanced suppression of disease\u2010causing nonsense mutations. Med Chem Commun 2: 165\u2010171","journal-title":"Med Chem Commun"},{"key":"BFEMMM201201438_CR19","doi-asserted-by":"crossref","unstructured":"Keeling KM, Bedwell DM (2011) Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases. Wiley Interdisciplinary Reviews: RNA 1\u201316","DOI":"10.1002\/wrna.95"},{"key":"BFEMMM201201438_CR20","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/j.ejmg.2006.04.003","volume":"49","author":"Kellermayer R","year":"2006","unstructured":"Kellermayer R. (2006) Translational readthrough induction of pathogenic nonsense mutations. Eur J Med Genet 49: 445\u2010450","journal-title":"Eur J Med Genet"},{"key":"BFEMMM201201438_CR21","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1016\/S0140-6736(08)61168-X","volume":"372","author":"E Kerem","year":"2008","unstructured":"Kerem E, Hirawat S, Armoni S, Yaakov Y, Shoseyov D, Cohen M, Nissim\u2010Rafinia M, Blau H, Rivlin J, Aviram M et al (2008) Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet 372: 719\u2010727","journal-title":"Lancet"},{"key":"BFEMMM201201438_CR22","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1136\/jmedgenet-2011-100468","volume":"49","author":"SP Le Quesne","year":"2012","unstructured":"Le Quesne SP, Saihan Z, Rangesh N, Steele\u2010Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP et al (2012) Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. J Med Genet 49: 27\u201036","journal-title":"J Med Genet"},{"key":"BFEMMM201201438_CR23","doi-asserted-by":"crossref","first-page":"1645","DOI":"10.1038\/mt.2011.90","volume":"19","author":"HL Lee","year":"2011","unstructured":"Lee HL, Chen CC, Baasov T, Ron Y, Dougherty JP (2011) Post\u2010transcriptionally regulated expression system in human xenogeneic transplantation models. Mol Ther 19: 1645\u20101655","journal-title":"Mol Ther"},{"key":"BFEMMM201201438_CR24","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1016\/j.tig.2008.08.010","volume":"24","author":"L Linde","year":"2008","unstructured":"Linde L, Kerem B (2008) Introducing sense into nonsense in treatments of human genetic diseases. Trends Genet 24: 552\u2010563","journal-title":"Trends Genet"},{"key":"BFEMMM201201438_CR25","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1038\/ki.2010.337","volume":"79","author":"JM Lopez\u2010Novoa","year":"2011","unstructured":"Lopez\u2010Novoa JM, Quiros Y, Vicente L, Morales AI, Lopez\u2010Hernandez FJ (2011) New insights into the mechanism of aminoglycoside nephrotoxicity: an integrative point of view. Kidney Int 79: 33\u201045","journal-title":"Kidney Int"},{"key":"BFEMMM201201438_CR26","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1093\/hmg\/ddm285","volume":"17","author":"T Maerker","year":"2008","unstructured":"Maerker T, van Wijk E, Overlack N, Kersten FF, McGee J, Goldmann T, Sehn E, Roepman R, Walsh EJ, Kremer H et al (2008) A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet 17: 71\u201086","journal-title":"Hum Mol Genet"},{"issue":"(Suppl 2)","key":"BFEMMM201201438_CR27","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1023\/A:1012419823739","volume":"24","author":"I Maire","year":"2001","unstructured":"Maire I (2001) Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases? J Inherit Metab Dis 24 (Suppl 2), 57\u201061","journal-title":"J Inherit Metab Dis"},{"key":"BFEMMM201201438_CR28","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1002\/ana.22024","volume":"67","author":"V Malik","year":"2010","unstructured":"Malik V, Rodino\u2010Klapac LR, Viollet L, Wall C, King W, Al Dahhak R, Lewis S, Shilling CJ, Kota J, Serrano\u2010Munuera C et al (2010) Gentamicin\u2010induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol 67: 771\u2010780","journal-title":"Ann Neurol"},{"key":"BFEMMM201201438_CR29","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1073\/pnas.2235688100","volume":"101","author":"T Matsuda","year":"2004","unstructured":"Matsuda T, Cepko CL (2004) Electroporation and RNA interference in the rodent retina in vivo and in vitro. Proc Natl Acad Sci USA 101: 16\u201022","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFEMMM201201438_CR30","doi-asserted-by":"crossref","first-page":"3987","DOI":"10.1093\/hmg\/ddn302","volume":"17","author":"M Moosajee","year":"2008","unstructured":"Moosajee M, Gregory\u2010Evans K, Ellis CD, Seabra MC, Gregory\u2010Evans CY (2008) Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease. Hum Mol Genet 17: 3987\u20104000","journal-title":"Hum Mol Genet"},{"key":"BFEMMM201201438_CR31","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1158\/1541-7786.170.2.3","volume":"2","author":"K Nagel\u2010Wolfrum","year":"2004","unstructured":"Nagel\u2010Wolfrum K, Buerger C, Wittig I, Butz K, Hoppe\u2010Seyler F, Groner B (2004) The interaction of specific peptide aptamers with the DNA binding domain and the dimerization domain of the transcription factor Stat3 inhibits transactivation and induces apoptosis in tumor cells. Mol Cancer Res 2: 170\u2010182","journal-title":"Mol Cancer Res"},{"key":"BFEMMM201201438_CR32","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1167\/iovs.10-5620","volume":"52","author":"K Nagel\u2010Wolfrum","year":"2011","unstructured":"Nagel\u2010Wolfrum K, Becker M, Goldmann T, Muller C, Vetter J, Wolfrum U (2011) USH1C transcripts and harmonin protein expression in human retina. Invest Ophthalmol Vis Sci 52: 45","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFEMMM201201438_CR33","doi-asserted-by":"crossref","first-page":"6310","DOI":"10.1016\/j.bmcl.2006.09.013","volume":"16","author":"I Nudelman","year":"2006","unstructured":"Nudelman I, Rebibo\u2010Sabbah A, Shallom\u2010Shezifi 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\u20106315","journal-title":"Bioorg Med Chem Lett"},{"key":"BFEMMM201201438_CR34","doi-asserted-by":"crossref","first-page":"2836","DOI":"10.1021\/jm801640k","volume":"52","author":"I Nudelman","year":"2009","unstructured":"Nudelman I, Rebibo\u2010Sabbah A, Cherniavsky M, Belakhov V, Hainrichson M, Chen F, Schacht J, Pilch DS, Ben\u2010Yosef T, Baasov T (2009) Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease\u2010causing premature stop mutations. J Med Chem 52: 2836\u20102845","journal-title":"J Med Chem"},{"key":"BFEMMM201201438_CR35","doi-asserted-by":"crossref","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\u2010causing nonsense mutations. Bioorg Med Chem 18: 3735\u20103746","journal-title":"Bioorg Med Chem"},{"key":"BFEMMM201201438_CR36","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/j.cellsig.2009.10.016","volume":"22","author":"W Orisme","year":"2010","unstructured":"Orisme W, Li J, Goldmann T, Bolch S, Wolfrum U, Smith WC (2010) Light\u2010dependent translocation of arrestin in rod photoreceptors is signaled through a phospholipase C cascade and requires ATP. Cell Signal 22: 447\u2010456","journal-title":"Cell Signal"},{"key":"BFEMMM201201438_CR37","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1007\/s00439-002-0736-0","volume":"111","author":"XM Ouyang","year":"2002","unstructured":"Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ (2002) Mutations in the alternatively spliced exons of USH1C cause non\u2010syndromic recessive deafness. Hum Genet 111: 26\u201030","journal-title":"Hum Genet"},{"key":"BFEMMM201201438_CR38","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1046\/j.0009-9163.2002.00004.x","volume":"63","author":"XM Ouyang","year":"2003","unstructured":"Ouyang XM, Hejtmancik JF, Jacobson SG, Xia XJ, Li A, Du LL, Newton V, Kaiser M, Balkany T, Nance WE et al (2003) USH1C: a rare cause of USH1 in a non\u2010Acadian population and a founder effect of the Acadian allele. Clin Genet 63: 150\u2010153","journal-title":"Clin Genet"},{"key":"BFEMMM201201438_CR39","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/j.visres.2007.08.021","volume":"48","author":"N Overlack","year":"2008","unstructured":"Overlack N, Maerker T, Latz M, Nagel\u2010Wolfrum K, Wolfrum U (2008) SANS (USH1G) expression in developing and mature mammalian retina. Vision Res 48: 400\u2010412","journal-title":"Vision Res"},{"key":"BFEMMM201201438_CR40","first-page":"377","volume-title":"Usher Syndrome: Pathogenesis, Diagnosis and Therapy","author":"N Overlack","year":"2011","unstructured":"Overlack N, Goldmann T, Wolfrum U, Nagel\u2010Wolfrum K (2011) Current therapeutic strategies for human usher syndrome. In Usher Syndrome: Pathogenesis, Diagnosis and Therapy, Ahuja S (ed) pp 377\u2010395. USA: Nova Science Publishers, Inc"},{"key":"BFEMMM201201438_CR41","first-page":"15","volume":"22","author":"L Politano","year":"2003","unstructured":"Politano L, Nigro G, Nigro V, Piluso G, Papparella S, Paciello O, Comi LI (2003) Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results. Acta Myol 22: 15\u201021","journal-title":"Acta Myol"},{"key":"BFEMMM201201438_CR42","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1007\/s00439-007-0410-7","volume":"122","author":"A Rebibo\u2010Sabbah","year":"2007","unstructured":"Rebibo\u2010Sabbah A, Nudelman I, Ahmed ZM, Baasov T, Ben Yosef T (2007) In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome. Hum Genet 122: 373\u2010381","journal-title":"Hum Genet"},{"key":"BFEMMM201201438_CR43","doi-asserted-by":"crossref","first-page":"4464","DOI":"10.1016\/j.visres.2006.07.019","volume":"46","author":"B Reidel","year":"2006","unstructured":"Reidel B, Orisme W, Goldmann T, Smith WC, Wolfrum U (2006) Photoreceptor vitality in organotypic cultures of mature vertebrate retinas validated by light\u2010dependent molecular movements. Vision Res 46: 4464\u20104471","journal-title":"Vision Res"},{"key":"BFEMMM201201438_CR44","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1002\/cm.20300","volume":"65","author":"B Reidel","year":"2008","unstructured":"Reidel B, Goldmann T, Giessl A, Wolfrum U (2008) The translocation of signaling molecules in dark adapting mammalian rod photoreceptor cells is dependent on the cytoskeleton. Cell Motil Cytoskeleton 65: 785\u2010800","journal-title":"Cell Motil Cytoskeleton"},{"key":"BFEMMM201201438_CR45","doi-asserted-by":"crossref","first-page":"5006","DOI":"10.1167\/iovs.03-0483","volume":"44","author":"J Reiners","year":"2003","unstructured":"Reiners J, Reidel B, El\u2010Amraoui A, Boeda B, Huber I, Petit C, Wolfrum U (2003) Differential distribution of harmonin isoforms and their possible role in Usher\u20101 protein complexes in mammalian photoreceptor cells. Invest Ophthalmol Visual Sci 44: 5006\u20105015","journal-title":"Invest Ophthalmol Visual Sci"},{"key":"BFEMMM201201438_CR46","first-page":"347","volume":"11","author":"J Reiners","year":"2005","unstructured":"Reiners J, Marker T, Jurgens K, Reidel B, Wolfrum U (2005a) Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C). Mol Vis 11: 347\u2010355","journal-title":"Mol Vis"},{"key":"BFEMMM201201438_CR47","doi-asserted-by":"crossref","first-page":"3933","DOI":"10.1093\/hmg\/ddi417","volume":"14","author":"J Reiners","year":"2005","unstructured":"Reiners J, van Wijk E, Marker T, Zimmermann U, Jurgens K, te BH, Overlack N, Roepman R, Knipper M, Kremer H et al (2005b) Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet 14: 3933\u20103943","journal-title":"Hum Mol Genet"},{"key":"BFEMMM201201438_CR48","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.exer.2005.11.010","volume":"83","author":"J Reiners","year":"2006","unstructured":"Reiners J, Nagel\u2010Wolfrum K, J\u00fcrgens K, M\u00e4rker T, Wolfrum U (2006) Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res 83: 97\u2010119","journal-title":"Exp Eye Res"},{"key":"BFEMMM201201438_CR49","first-page":"1140","volume":"89","author":"SM Rowe","year":"2011","unstructured":"Rowe SM, Sloane P, Tang LP, Backer K, Mazur M, Buckley\u2010Lanier J, Nudelman I, Belakhov V, Bebok Z, Schwiebert E et al (2011) Suppression of CFTR premature termination codons and rescue of CFTR protein and function by the synthetic aminoglycoside NB54. J Mol Med 89: 1140\u20101161","journal-title":"J Mol Med"},{"key":"BFEMMM201201438_CR50","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1164\/rccm.201001-0137OC","volume":"182","author":"I Sermet\u2010Gaudelus","year":"2010","unstructured":"Sermet\u2010Gaudelus I, Boeck KD, Casimir GJ, Vermeulen F, Leal T, Mogenet A, Roussel D, Fritsch J, Hanssens L, Hirawat S et al (2010) Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis. Am J Respir Crit Care Med 182: 1262\u20101272","journal-title":"Am J Respir Crit Care Med"},{"key":"BFEMMM201201438_CR51","doi-asserted-by":"crossref","first-page":"2591","DOI":"10.1128\/AAC.35.12.2591","volume":"35","author":"SK Swan","year":"1991","unstructured":"Swan SK, Kohlhepp SJ, Kohnen PW, Gilbert DN, Bennett WM (1991) Long\u2010term protection of polyaspartic acid in experimental gentamicin nephrotoxicity. Antimicrob Agents Chemother 35: 2591\u20102595","journal-title":"Antimicrob Agents Chemother"},{"key":"BFEMMM201201438_CR52","doi-asserted-by":"crossref","first-page":"e20733","DOI":"10.1371\/journal.pone.0020733","volume":"6","author":"M Vecsler","year":"2011","unstructured":"Vecsler M, Ben Zeev B, Nudelman I, Anikster Y, Simon AJ, Amariglio N, Rechavi G, Baasov T, Gak E (2011) Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations. PLoS One 6: e20733","journal-title":"PLoS One"},{"key":"BFEMMM201201438_CR53","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/79171","volume":"26","author":"E Verpy","year":"2000","unstructured":"Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ et al (2000) A defect in harmonin, a PDZ domain\u2010containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet 26: 51\u201055","journal-title":"Nat Genet"},{"key":"BFEMMM201201438_CR54","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1097\/MOO.0b013e32833e05ec","volume":"18","author":"ME Warchol","year":"2010","unstructured":"Warchol ME (2010) Cellular mechanisms of aminoglycoside ototoxicity. Curr Opin Otolaryngol Head Neck Surg 18: 454\u2010458","journal-title":"Curr Opin Otolaryngol Head Neck Surg"},{"key":"BFEMMM201201438_CR55","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/nature05756","volume":"447","author":"EM Welch","year":"2007","unstructured":"Welch EM, Barton ER, Zhuo J, Tomizawa Y, Friesen WJ, Trifillis P, Paushkin S, Patel M, Trotta CR, Hwang S et al (2007) PTC124 targets genetic disorders caused by nonsense mutations. Nature 447: 87\u201091","journal-title":"Nature"},{"key":"BFEMMM201201438_CR56","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1056\/NEJMoa022170","volume":"349","author":"M Wilschanski","year":"2003","unstructured":"Wilschanski M, Yahav Y, Yaacov Y, Blau H, Bentur L, Rivlin J, Aviram M, Bdolah\u2010Abram T, Bebok Z, Shushi L et al (2003) Gentamicin\u2010induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 349: 1433\u20101441","journal-title":"N Engl J Med"},{"key":"BFEMMM201201438_CR57","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1183\/09031936.00120910","volume":"38","author":"M Wilschanski","year":"2011","unstructured":"Wilschanski M, Miller LL, Shoseyov D, Blau H, Rivlin J, Aviram M, Cohen M, Armoni S, Yaakov Y, Pugatch T et al (2011) Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis. Eur Respir J 38: 59\u201069","journal-title":"Eur Respir J"},{"key":"BFEMMM201201438_CR58","first-page":"51","volume-title":"Usher Syndrome: Pathogenesis, Diagnosis and Therapy","author":"U Wolfrum","year":"2011","unstructured":"Wolfrum U (2011) Protein networks related to the Usher syndrome gain insights in the molecular basis of the disease. In Usher Syndrome: Pathogenesis, Diagnosis and Therapy, Satpal A (ed) pp 51\u201073. USA: Nova Science Publishers, Inc"},{"key":"BFEMMM201201438_CR59","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1038\/jhg.2010.29","volume":"55","author":"D Yan","year":"2010","unstructured":"Yan D, Liu XZ (2010) Genetics and pathological mechanisms of Usher syndrome. J Hum Genet 55: 327\u2010335","journal-title":"J Hum Genet"},{"key":"BFEMMM201201438_CR60","first-page":"293","volume-title":"Hearing Loss","author":"J Yang","year":"2012","unstructured":"Yang J (2012) Usher Syndrome: Genes, Proteins, Models, Molecular Mechanisms, and Therapies. In Hearing Loss, Naz S (ed) pp 293\u2010328. Croatia: InTech"},{"key":"BFEMMM201201438_CR61","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/sj.clpt.6100012","volume":"81","author":"LV Zingman","year":"2007","unstructured":"Zingman LV, Park S, Olson TM, Alekseev AE, Terzic A (2007) Aminoglycoside\u2010induced translational read\u2010through in disease: overcoming nonsense mutations by pharmacogenetic therapy. Clin Pharmacol Ther 81: 99\u2010103","journal-title":"Clin Pharmacol Ther"},{"key":"BFEMMM201201438_CR62","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1002\/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O","volume":"17","author":"I Zwaenepoel","year":"2001","unstructured":"Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt\u2010Sylla E, Gal A, Petit C (2001) Identification of three novel mutations in the USH1C gene and detection of thirty\u2010one polymorphisms used for haplotype analysis. Hum Mutat 17: 34\u201041","journal-title":"Hum Mutat"}],"container-title":["EMBO Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1002\/emmm.201201438.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/emmm.201201438","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1002\/emmm.201201438\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.embopress.org\/doi\/pdf\/10.1002\/emmm.201201438","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1002\/emmm.201201438.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T06:03:21Z","timestamp":1779084201000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1002\/emmm.201201438"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10,2]]},"references-count":62,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2012,11,1]]}},"alternative-id":["BFEMMM201201438"],"URL":"https:\/\/doi.org\/10.1002\/emmm.201201438","relation":{},"ISSN":["1757-4676","1757-4684"],"issn-type":[{"value":"1757-4676","type":"print"},{"value":"1757-4684","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,10,2]]},"assertion":[{"value":"11 April 2012","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 August 2012","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 August 2012","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 October 2012","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}