{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T15:02:40Z","timestamp":1784991760623,"version":"3.55.0"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"13","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,7,1]]},"DOI":"10.1093\/hmg\/ddt120","type":"journal-article","created":{"date-parts":[[2013,3,29]],"date-time":"2013-03-29T03:28:32Z","timestamp":1364527712000},"page":"2723-2734","source":"Crossref","is-referenced-by-count":45,"title":["The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis"],"prefix":"10.1093","volume":"22","author":[{"given":"Jake N.","family":"Miller","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-Hung","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Pearce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2013,3,28]]},"reference":[{"key":"key\n\t\t\t\t20170522132551_DDT120C1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/jnen\/62.1.1","article-title":"The neuronal ceroid-lipofuscinoses","volume":"62","author":"Haltia","year":"2003","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"key\n\t\t\t\t20170522132551_DDT120C2","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/S0387-7604(88)80075-5","article-title":"Neuronal ceroid-lipofuscinoses in childhood","volume":"10","author":"Santavuori","year":"1988","journal-title":"Brain Dev."},{"key":"key\n\t\t\t\t20170522132551_DDT120C3","first-page":"697","article-title":"Neuronal ceroid lipofuscinoses","volume":"1793","author":"Jalanko","year":"2009","journal-title":"BBA Mol. Cell. Res."},{"key":"key\n\t\t\t\t20170522132551_DDT120C4","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1016\/j.ajhg.2011.04.004","article-title":"Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6","volume":"88","author":"Arsov","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522132551_DDT120C5","doi-asserted-by":"crossref","first-page":"2646","DOI":"10.1093\/hmg\/dds089","article-title":"Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis","volume":"21","author":"Bras","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522132551_DDT120C6","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/humu.21624","article-title":"Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses","volume":"33","author":"Kousi","year":"2012","journal-title":"Hum. Mutat."},{"key":"key\n\t\t\t\t20170522132551_DDT120C7","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.ajhg.2011.07.003","article-title":"Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis","volume":"89","author":"Noskova","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522132551_DDT120C8","doi-asserted-by":"crossref","first-page":"3332","DOI":"10.1093\/hmg\/ddn228","article-title":"Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models","volume":"17","author":"Chan","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522132551_DDT120C9","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1146\/annurev.biochem.76.050106.093909","article-title":"The nonsense-mediated decay RNA surveillance pathway","volume":"76","author":"Chang","year":"2007","journal-title":"Annu. Rev. Biochem."},{"key":"key\n\t\t\t\t20170522132551_DDT120C10","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.molcel.2010.07.004","article-title":"UPF1 association with the cap-binding protein, CBP80, promotes nonsense-mediated mRNA decay at two distinct steps","volume":"39","author":"Hwang","year":"2010","journal-title":"Mol. Cell."},{"key":"key\n\t\t\t\t20170522132551_DDT120C11","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.gde.2011.03.008","article-title":"Nonsense-mediated mRNA decay (NMD) in animal embryogenesis: to die or not to die, that is the question","volume":"21","author":"Hwang","year":"2011","journal-title":"Curr. Opin. Genet. Devel."},{"key":"key\n\t\t\t\t20170522132551_DDT120C12","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1016\/j.cell.2008.02.030","article-title":"Upf1 phosphorylation triggers translational repression during nonsense-mediated mRNA decay","volume":"133","author":"Isken","year":"2008","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522132551_DDT120C13","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1016\/j.febslet.2010.01.003","article-title":"Nonsense-mediated translational repression involves exon junction complex downstream of premature translation termination codon","volume":"584","author":"Lee","year":"2010","journal-title":"FEBS Lett."},{"key":"key\n\t\t\t\t20170522132551_DDT120C14","first-page":"538","article-title":"Recognition and elimination of nonsense mRNA","volume":"1779","author":"Muhlemann","year":"2008","journal-title":"BBA - Gene Reg. Mech."},{"key":"key\n\t\t\t\t20170522132551_DDT120C15","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.febslet.2008.12.058","article-title":"The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! Which players make the decision?","volume":"583","author":"Silva","year":"2009","journal-title":"FEBS Lett."},{"key":"key\n\t\t\t\t20170522132551_DDT120C16","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1038\/nrm3454","article-title":"NMD: a multifaceted response to premature translational termination","volume":"13","author":"Kervestin","year":"2012","journal-title":"Nature Rev. Mol. Cell Biol."},{"key":"key\n\t\t\t\t20170522132551_DDT120C17","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.molmed.2006.06.001","article-title":"Stop-codon read-through for patients affected by a lysosomal storage disorder","volume":"12","author":"Brooks","year":"2006","journal-title":"Trends Mol. Med."},{"key":"key\n\t\t\t\t20170522132551_DDT120C18","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1177\/0883073810371129","article-title":"Read-through strategies for suppression of nonsense mutations in Duchenne\/Becker muscular dystrophy: aminoglycosides and ataluren (PTC124)","volume":"25","author":"Finkel","year":"2010","journal-title":"J. Child. Neurol."},{"key":"key\n\t\t\t\t20170522132551_DDT120C19","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1089\/hum.2010.067","article-title":"PTC124-mediated translational readthrough of a nonsense mutation causing usher syndrome type 1C","volume":"22","author":"Goldmann","year":"2011","journal-title":"Hum. Gene Ther."},{"key":"key\n\t\t\t\t20170522132551_DDT120C20","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.pharmthera.2012.07.007","article-title":"Pharmaceutical therapies to recode nonsense mutations in inherited diseases","volume":"136","author":"Lee","year":"2012","journal-title":"Pharmacol. Ther."},{"key":"key\n\t\t\t\t20170522132551_DDT120C21","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/nature05756","article-title":"PTC124 targets genetic disorders caused by nonsense mutations","volume":"447","author":"Welch","year":"2007","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522132551_DDT120C22","doi-asserted-by":"crossref","first-page":"4007","DOI":"10.1093\/hmg\/dds223","article-title":"Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy","volume":"21","author":"Kayali","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522132551_DDT120C23","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1073\/pnas.0136770100","article-title":"Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans","volume":"100","author":"Lewis","year":"2003","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522132551_DDT120C24","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1093\/hmg\/8.10.1893","article-title":"Nonsense-mediated mRNA decay in health and disease","volume":"8","author":"Frischmeyer","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522132551_DDT120C25","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1038\/ng1403","article-title":"Nonsense-mediated decay approaches the clinic","volume":"36","author":"Holbrook","year":"2004","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522132551_DDT120C26","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.nmd.2006.10.001","article-title":"Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay","volume":"17","author":"Stehlikova","year":"2007","journal-title":"Neuromuscul. Disord."},{"key":"key\n\t\t\t\t20170522132551_DDT120C27","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1007\/s004390100598","article-title":"Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?","volume":"109","author":"Kerr","year":"2001","journal-title":"Hum. Genet."},{"key":"key\n\t\t\t\t20170522132551_DDT120C28","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1212\/WNL.0b013e31825f0547","article-title":"New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses","volume":"79","author":"Williams","year":"2012","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170522132551_DDT120C29","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1172\/JCI3112","article-title":"Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S","volume":"102","author":"Das","year":"1998","journal-title":"J. Clin. Invest."},{"key":"key\n\t\t\t\t20170522132551_DDT120C30","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1093\/hmg\/7.2.291","article-title":"Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits","volume":"7","author":"Mitchison","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522132551_DDT120C31","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1053\/ejpn.2000.0427","article-title":"New mutations in the neuronal ceroid lipofuscinosis genes","volume":"5","author":"Mole","year":"2001","journal-title":"Euro. J. Paediatr. Neurol."},{"key":"key\n\t\t\t\t20170522132551_DDT120C32","doi-asserted-by":"crossref","first-page":"4573","DOI":"10.1073\/pnas.080508097","article-title":"The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis","volume":"97","author":"Bellizzi","year":"2000","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522132551_DDT120C33","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.braindev.2009.08.010","article-title":"Structural basis of neuronal ceroid lipofuscinosis 1","volume":"32","author":"Ohno","year":"2010","journal-title":"Brain Dev."},{"key":"key\n\t\t\t\t20170522132551_DDT120C34","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1086\/302427","article-title":"Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder","volume":"64","author":"Sleat","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522132551_DDT120C35","doi-asserted-by":"crossref","first-page":"3976","DOI":"10.1074\/jbc.M806947200","article-title":"Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis","volume":"284","author":"Pal","year":"2009","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522132551_DDT120C36","doi-asserted-by":"crossref","first-page":"2483","DOI":"10.1093\/hmg\/ddh264","article-title":"Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes","volume":"13","author":"Steinfeld","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522132551_DDT120C37","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1111\/j.1750-3639.2004.tb00500.x","article-title":"The genetic spectrum of human neuronal ceroid-lipofuscinoses","volume":"14","author":"Mole","year":"2004","journal-title":"Brain Pathol."},{"key":"key\n\t\t\t\t20170522132551_DDT120C38","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s10048-005-0218-3","article-title":"Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses","volume":"6","author":"Mole","year":"2005","journal-title":"Neurogenetics"},{"key":"key\n\t\t\t\t20170522132551_DDT120C39","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/j.bbadis.2006.05.006","article-title":"Molecular genetics of the NCLs\u2014status and perspectives","volume":"1762","author":"Siintola","year":"2006","journal-title":"Biochim. Biophys. Acta"},{"key":"key\n\t\t\t\t20170522132551_DDT120C40","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/jnr.20367","article-title":"CLN3, the protein associated with batten disease: structure, function and localization","volume":"79","author":"Phillips","year":"2005","journal-title":"J. Neurosci. Res."},{"key":"key\n\t\t\t\t20170522132551_DDT120C41","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1136\/jmg.36.6.471","article-title":"A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants","volume":"36","author":"Voznyi","year":"1999","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170522132551_DDT120C42","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1006\/mgme.1999.2809","article-title":"A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL","volume":"66","author":"van Diggelen","year":"1999","journal-title":"Mol. Genet. Metab."},{"key":"key\n\t\t\t\t20170522132551_DDT120C43","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/ana.1103","article-title":"Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease","volume":"50","author":"van Diggelen","year":"2001","journal-title":"Ann. Neurol."},{"key":"key\n\t\t\t\t20170522132551_DDT120C44","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1046\/j.1471-4159.1999.0730700.x","article-title":"Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models","volume":"73","author":"Sohar","year":"1999","journal-title":"J. Neurochem."},{"key":"key\n\t\t\t\t20170522132551_DDT120C45","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1093\/clinchem\/46.7.1005","article-title":"Enzyme-based diagnosis of classical late infantile neuronal ceroid lipofuscinosis: comparison of tripeptidyl peptidase i and pepstatin-insensitive protease assays","volume":"46","author":"Sohar","year":"2000","journal-title":"Clin. Chem."},{"key":"key\n\t\t\t\t20170522132551_DDT120C46","doi-asserted-by":"crossref","first-page":"1431","DOI":"10.1093\/hmg\/10.13.1431","article-title":"Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis","volume":"10","author":"Das","year":"2001","journal-title":"Hum. Mol. Genet."},{"issue":"Suppl A","key":"key\n\t\t\t\t20170522132551_DDT120C47","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1053\/ejpn.2000.0436","article-title":"Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis","volume":"5","author":"Sleat","year":"2001","journal-title":"Euro. J. Paediatr. Neurol."},{"key":"key\n\t\t\t\t20170522132551_DDT120C48","first-page":"383","article-title":"Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients","volume":"3","author":"Sarkar","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"key\n\t\t\t\t20170522132551_DDT120C49","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-006-0280-4","article-title":"New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy","volume":"121","author":"Beck","year":"2007","journal-title":"Hum. Genet."},{"key":"key\n\t\t\t\t20170522132551_DDT120C50","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1016\/j.ymthe.2006.01.006","article-title":"Gene therapy for lysosomal storage diseases","volume":"13","author":"Sands","year":"2006","journal-title":"Mol. Ther."},{"key":"key\n\t\t\t\t20170522132551_DDT120C51","doi-asserted-by":"crossref","first-page":"867","DOI":"10.2174\/138920111795542633","article-title":"Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses","volume":"12","author":"Kohan","year":"2011","journal-title":"Curr. Pharm. Biotechnol."},{"key":"key\n\t\t\t\t20170522132551_DDT120C52","doi-asserted-by":"crossref","first-page":"3759","DOI":"10.1093\/hmg\/ddi406","article-title":"Defective lysosomal arginine transport in juvenile Batten disease","volume":"14","author":"Ramirez-Montealegre","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522132551_DDT120C53","doi-asserted-by":"crossref","first-page":"e45","DOI":"10.1093\/nar\/29.9.e45","article-title":"A new mathematical model for relative quantification in real-time RT-PCR","volume":"29","author":"Pfaffl","year":"2001","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20170522132551_DDT120C54","doi-asserted-by":"crossref","first-page":"e36","DOI":"10.1093\/nar\/30.9.e36","article-title":"Relative expression software tool (REST) for group-wise comparison and statistical analysis of relative expression results in real-time PCR","volume":"30","author":"Pfaffl","year":"2002","journal-title":"Nucleic Acids Res."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/22\/13\/2723\/17259794\/ddt120.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,30]],"date-time":"2023-06-30T18:48:27Z","timestamp":1688150907000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddt120"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,28]]},"references-count":54,"journal-issue":{"issue":"13","published-online":{"date-parts":[[2013,3,28]]},"published-print":{"date-parts":[[2013,7,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddt120","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2013,3,28]]}}}