{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T10:36:27Z","timestamp":1777545387261,"version":"3.51.4"},"reference-count":48,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2011,10,1]],"date-time":"2011-10-01T00:00:00Z","timestamp":1317427200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,10,7]],"date-time":"2016-10-07T00:00:00Z","timestamp":1475798400000},"content-version":"vor","delay-in-days":1833,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Therapy"],"published-print":{"date-parts":[[2011,10]]},"DOI":"10.1038\/mt.2011.130","type":"journal-article","created":{"date-parts":[[2011,7,5]],"date-time":"2011-07-05T16:48:25Z","timestamp":1309884505000},"page":"1842-1848","source":"Crossref","is-referenced-by-count":55,"title":["Large-volume Intrathecal Enzyme Delivery Increases Survival of a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis"],"prefix":"10.1016","volume":"19","author":[{"given":"Su","family":"Xu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingling","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mukarram","family":"El-Banna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Istvan","family":"Sohar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David E","family":"Sleat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Lobel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1038\/mt.2011.130_bib1","doi-asserted-by":"crossref","first-page":"1802","DOI":"10.1126\/science.277.5333.1802","article-title":"Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis","volume":"277","author":"Sleat","year":"1997","journal-title":"Science"},{"key":"10.1038\/mt.2011.130_bib2","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/S0014-5793(98)01683-4","article-title":"Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I","volume":"443","author":"Vines","year":"1999","journal-title":"FEBS Lett"},{"key":"10.1038\/mt.2011.130_bib3","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1002\/ajmg.1320420428","article-title":"Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)","volume":"42","author":"Palmer","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1038\/mt.2011.130_bib4","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1002\/ajmg.10660","article-title":"Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations","volume":"112","author":"Steinfeld","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1038\/mt.2011.130_bib5","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1212\/01.wnl.0000267885.47092.40","article-title":"Neurological deterioration in late infantile neuronal ceroid lipofuscinosis","volume":"69","author":"Worgall","year":"2007","journal-title":"Neurology"},{"key":"10.1038\/mt.2011.130_bib6","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":"10.1038\/mt.2011.130_bib7","doi-asserted-by":"crossref","first-page":"9117","DOI":"10.1523\/JNEUROSCI.2729-04.2004","article-title":"A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration","volume":"24","author":"Sleat","year":"2004","journal-title":"J Neurosci"},{"key":"10.1038\/mt.2011.130_bib8","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1523\/JNEUROSCI.2676-05.2006","article-title":"Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis","volume":"26","author":"Passini","year":"2006","journal-title":"J Neurosci"},{"key":"10.1038\/mt.2011.130_bib9","doi-asserted-by":"crossref","first-page":"1782","DOI":"10.1038\/sj.mt.6300249","article-title":"Timing of therapeutic intervention determines functional and survival outcomes in a mouse model of late infantile batten disease","volume":"15","author":"Cabrera-Salazar","year":"2007","journal-title":"Mol Ther"},{"key":"10.1038\/mt.2011.130_bib10","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1038\/sj.mt.6300049","article-title":"Enhanced survival of the LINCL mouse following CLN2 gene transfer using the rh.10 rhesus macaque-derived adeno-associated virus vector","volume":"15","author":"Sondhi","year":"2007","journal-title":"Mol Ther"},{"key":"10.1038\/mt.2011.130_bib11","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.expneurol.2008.04.022","article-title":"Survival advantage of neonatal CNS gene transfer for late infantile neuronal ceroid lipofuscinosis","volume":"213","author":"Sondhi","year":"2008","journal-title":"Exp Neurol"},{"key":"10.1038\/mt.2011.130_bib12","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1089\/hum.2008.022","article-title":"Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA","volume":"19","author":"Worgall","year":"2008","journal-title":"Hum Gene Ther"},{"key":"10.1038\/mt.2011.130_bib13","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1016\/j.ymthe.2004.12.020","article-title":"AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy","volume":"11","author":"Rafi","year":"2005","journal-title":"Mol Ther"},{"key":"10.1038\/mt.2011.130_bib14","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.ymthe.2005.04.019","article-title":"AAV2\/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2","volume":"12","author":"Lin","year":"2005","journal-title":"Mol Ther"},{"key":"10.1038\/mt.2011.130_bib15","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.ymthe.2006.02.012","article-title":"Genetic correction of the fetal brain increases the lifespan of mice with the severe multisystemic disease mucopolysaccharidosis type VII","volume":"14","author":"Karolewski","year":"2006","journal-title":"Mol Ther"},{"key":"10.1038\/mt.2011.130_bib16","doi-asserted-by":"crossref","first-page":"e133","DOI":"10.1371\/journal.pgen.0020133","article-title":"A look to future directions in gene therapy research for monogenic diseases","volume":"2","author":"Porteus","year":"2006","journal-title":"PLoS Genet"},{"key":"10.1038\/mt.2011.130_bib17","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.expneurol.2009.03.040","article-title":"Promising CNS-directed enzyme replacement therapy for lysosomal storage diseases","volume":"218","author":"Macauley","year":"2009","journal-title":"Exp Neurol"},{"key":"10.1038\/mt.2011.130_bib18","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1146\/annurev.med.57.110104.115650","article-title":"Enzyme replacement for lysosomal diseases","volume":"57","author":"Brady","year":"2006","journal-title":"Annu Rev Med"},{"key":"10.1038\/mt.2011.130_bib19","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/j.ymgme.2006.09.001","article-title":"A phase I\/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome)","volume":"90","author":"Muenzer","year":"2007","journal-title":"Mol Genet Metab"},{"key":"10.1038\/mt.2011.130_bib20","doi-asserted-by":"crossref","first-page":"2616","DOI":"10.1073\/pnas.0712147105","article-title":"Chemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII","volume":"105","author":"Grubb","year":"2008","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1038\/mt.2011.130_bib21","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1124\/jpet.104.082974","article-title":"Delivery of beta-galactosidase to mouse brain via the blood-brain barrier transferrin receptor","volume":"313","author":"Zhang","year":"2005","journal-title":"J Pharmacol Exp Ther"},{"key":"10.1038\/mt.2011.130_bib22","doi-asserted-by":"crossref","first-page":"7594","DOI":"10.1073\/pnas.0702170104","article-title":"Targeted delivery of proteins across the blood-brain barrier","volume":"104","author":"Spencer","year":"2007","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1038\/mt.2011.130_bib23","first-page":"S124","article-title":"Novel treatments and future perspectives: outcomes of intrathecal drug delivery","volume":"47 Suppl 1","author":"Dickson","year":"2009","journal-title":"Int J Clin Pharmacol Ther"},{"key":"10.1038\/mt.2011.130_bib24","first-page":"S118","article-title":"Delivery of recombinant proteins via the cerebrospinal fluid as a therapy option for neurodegenerative lysosomal storage diseases","volume":"47 Suppl 1","author":"Hemsley","year":"2009","journal-title":"Int J Clin Pharmacol Ther"},{"key":"10.1038\/mt.2011.130_bib25","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1038\/mt.2008.9","article-title":"Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis","volume":"16","author":"Chang","year":"2008","journal-title":"Mol Ther"},{"key":"10.1038\/mt.2011.130_bib26","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ymgme.2004.07.003","article-title":"Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I","volume":"83","author":"Kakkis","year":"2004","journal-title":"Mol Genet Metab"},{"key":"10.1038\/mt.2011.130_bib27","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.ymgme.2006.12.012","article-title":"Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid","volume":"91","author":"Dickson","year":"2007","journal-title":"Mol Genet Metab"},{"key":"10.1038\/mt.2011.130_bib28","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.ymgme.2006.10.005","article-title":"Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice","volume":"90","author":"Hemsley","year":"2007","journal-title":"Mol Genet Metab"},{"key":"10.1038\/mt.2011.130_bib29","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/0014-2999(80)90515-4","article-title":"Intrathecal morphine in mice: a new technique","volume":"67","author":"Hylden","year":"1980","journal-title":"Eur J Pharmacol"},{"key":"10.1038\/mt.2011.130_bib30","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.brainres.2005.07.022","article-title":"Chronic daily intrathecal injections of a large volume of fluid increase mast cells in the thalamus of mice","volume":"1056","author":"Taiwo","year":"2005","journal-title":"Brain Res"},{"key":"10.1038\/mt.2011.130_bib31","doi-asserted-by":"crossref","first-page":"12658","DOI":"10.1073\/pnas.0405042101","article-title":"Developmentally regulated mannose 6-phosphate receptor-mediated transport of a lysosomal enzyme across the blood-brain barrier","volume":"101","author":"Urayama","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1038\/mt.2011.130_bib32","doi-asserted-by":"crossref","first-page":"553","DOI":"10.2165\/00003088-200746070-00002","article-title":"Strategies to improve drug delivery across the blood-brain barrier","volume":"46","author":"de Boer","year":"2007","journal-title":"Clin Pharmacokinet"},{"key":"10.1038\/mt.2011.130_bib33","doi-asserted-by":"crossref","first-page":"2520","DOI":"10.1096\/fj.06-6169com","article-title":"Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy","volume":"21","author":"Lee","year":"2007","journal-title":"FASEB J"},{"key":"10.1038\/mt.2011.130_bib34","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.ymgme.2011.03.011","article-title":"Biodistribution and pharmacodynamics of recombinant human alpha-l-iduronidase (rhIDU) in mucopolysaccharidosis type I-affected cats following multiple intrathecal administrations","volume":"103","author":"Vite","year":"2011","journal-title":"Mol Genet Metab"},{"key":"10.1038\/mt.2011.130_bib35","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/1743-8454-5-10","article-title":"Multiplicity of cerebrospinal fluid functions: New challenges in health and disease","volume":"5","author":"Johanson","year":"2008","journal-title":"Cerebrospinal Fluid Res"},{"key":"10.1038\/mt.2011.130_bib36","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1002\/ana.22262","article-title":"Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis","volume":"69","author":"Tsuji","year":"2011","journal-title":"Ann Neurol"},{"key":"10.1038\/mt.2011.130_bib37","doi-asserted-by":"crossref","first-page":"1549","DOI":"10.1096\/fj.05-3826fje","article-title":"Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy","volume":"19","author":"Lee","year":"2005","journal-title":"FASEB J"},{"key":"10.1038\/mt.2011.130_bib38","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1016\/j.ymgme.2008.01.014","article-title":"Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis","volume":"94","author":"Sleat","year":"2008","journal-title":"Mol Genet Metab"},{"key":"10.1038\/mt.2011.130_bib39","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1212\/01.wnl.0000251268.41188.04","article-title":"Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease","volume":"68","author":"Kishnani","year":"2007","journal-title":"Neurology"},{"key":"10.1038\/mt.2011.130_bib40","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1097\/MPH.0b013e3181914709","article-title":"Delayed recognition of intrathecal methotrexate overdose","volume":"31","author":"Malbora","year":"2009","journal-title":"J Pediatr Hematol Oncol"},{"key":"10.1038\/mt.2011.130_bib41","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1111\/j.1651-2227.1992.tb12244.x","article-title":"Cerebrospinal fluid exchange after intrathecal methotrexate overdose. A report of two cases","volume":"81","author":"Jakobson","year":"1992","journal-title":"Acta Paediatr"},{"issue":"Pt 1","key":"10.1038\/mt.2011.130_bib42","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1042\/bj3570049","article-title":"Production and characterization of recombinant human CLN2 protein for enzyme-replacement therapy in late infantile neuronal ceroid lipofuscinosis","volume":"357","author":"Lin","year":"2001","journal-title":"Biochem J"},{"key":"10.1038\/mt.2011.130_bib43","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.jneumeth.2003.09.015","article-title":"Chronic lumbar catheterization of the spinal subarachnoid space in mice","volume":"133","author":"Wu","year":"2004","journal-title":"J Neurosci Methods"},{"key":"10.1038\/mt.2011.130_bib44","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":"10.1038\/mt.2011.130_bib45","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/j.ymgme.2006.11.006","article-title":"Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B","volume":"90","author":"Ryazantsev","year":"2007","journal-title":"Mol Genet Metab"},{"key":"10.1038\/mt.2011.130_bib46","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1042\/BJ20100128","article-title":"Glial fibrillary acidic protein is elevated in the lysosomal storage disease classical late-infantile neuronal ceroid lipofuscinosis, but is not a component of the storage material","volume":"428","author":"Xu","year":"2010","journal-title":"Biochem J"},{"key":"10.1038\/mt.2011.130_bib47","doi-asserted-by":"crossref","first-page":"e11929","DOI":"10.1371\/journal.pone.0011929","article-title":"A critical tryptophan and Ca2+ in activation and catalysis of TPPI, the enzyme deficient in classic late-infantile neuronal ceroid lipofuscinosis","volume":"5","author":"Kuizon","year":"2010","journal-title":"PLoS ONE"},{"key":"10.1038\/mt.2011.130_bib48","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/S0165-0270(01)00485-X","article-title":"A simple method to measure stride length as an index of nigrostriatal dysfunction in mice","volume":"113","author":"Fernagut","year":"2002","journal-title":"J Neurosci Methods"}],"container-title":["Molecular Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525001616327769?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525001616327769?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,6,21]],"date-time":"2020-06-21T04:38:21Z","timestamp":1592714301000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1525001616327769"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,10]]},"references-count":48,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["S1525001616327769"],"URL":"https:\/\/doi.org\/10.1038\/mt.2011.130","relation":{},"ISSN":["1525-0016"],"issn-type":[{"value":"1525-0016","type":"print"}],"subject":[],"published":{"date-parts":[[2011,10]]}}}