{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T11:03:53Z","timestamp":1791198233944,"version":"4.1.0"},"reference-count":48,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2011,5,1]],"date-time":"2011-05-01T00:00:00Z","timestamp":1304208000000},"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":1986,"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":[[2011,5]]},"DOI":"10.1038\/mt.2010.299","type":"journal-article","created":{"date-parts":[[2011,2,15]],"date-time":"2011-02-15T21:37:07Z","timestamp":1297805827000},"page":"860-869","source":"Crossref","is-referenced-by-count":46,"title":["Efficacy of a Combined Intracerebral and Systemic Gene Delivery Approach for the Treatment of a Severe Lysosomal Storage Disorder"],"prefix":"10.1016","volume":"19","author":[{"given":"Carmine","family":"Spampanato","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elvira","family":"De Leonibus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Dama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annagiusi","family":"Gargiulo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Fraldi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolina Cristina","family":"Sorrentino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Russo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Nusco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Auricchio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico M","family":"Surace","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Ballabio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/mt.2010.299_bib1","series-title":"The Metabolic and Molecular Basis of the Inherited Disease","first-page":"3725","author":"Hopwood","year":"1997"},{"key":"10.1038\/mt.2010.299_bib2","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/S0092-8674(03)00348-9","article-title":"The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases","volume":"113","author":"Cosma","year":"2003","journal-title":"Cell"},{"key":"10.1038\/mt.2010.299_bib3","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/S0092-8674(03)00347-7","article-title":"Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(\u03b1)-formylglycine generating enzyme","volume":"113","author":"Dierks","year":"2003","journal-title":"Cell"},{"key":"10.1038\/mt.2010.299_bib4","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1042\/BJ20061783","article-title":"SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies","volume":"403","author":"Fraldi","year":"2007","journal-title":"Biochem J"},{"key":"10.1038\/mt.2010.299_bib5","series-title":"The Metabolic and Molecular Basis of Inherited Disease","first-page":"3421","article-title":"The mucopolysaccharidoses","author":"Neufeld","year":"2001"},{"key":"10.1038\/mt.2010.299_bib6","series-title":"The Metabolic and Molecular Basis of Inherited Disease","first-page":"3695","article-title":"Metachromatic leukodystrophy","author":"Von Figura","year":"2001"},{"key":"10.1038\/mt.2010.299_bib7","series-title":"The Metabolic and Molecular Basis of Inherited Disease","first-page":"4241","article-title":"Steroid sulfatase deficiency and X-linked ichthyosis","author":"Ballabio","year":"2001"},{"key":"10.1038\/mt.2010.299_bib8","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1002\/humu.20040","article-title":"Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency","volume":"23","author":"Cosma","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1038\/mt.2010.299_bib9","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.9504","article-title":"Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene","volume":"28","author":"Annunziata","year":"2007","journal-title":"Hum Mutat"},{"key":"10.1038\/mt.2010.299_bib10","doi-asserted-by":"crossref","first-page":"4506","DOI":"10.1073\/pnas.0700382104","article-title":"Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency","volume":"104","author":"Settembre","year":"2007","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1038\/mt.2010.299_bib11","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1038\/sj.ejhg.5201153","article-title":"Advances in AAV-mediated gene transfer for the treatment of inherited disorders","volume":"12","author":"Hildinger","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"10.1038\/mt.2010.299_bib12","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.ymthe.2006.03.014","article-title":"Robust systemic transduction with AAV9 vectors in mice: efficient global cardiac gene transfer superior to that of AAV8","volume":"14","author":"Inagaki","year":"2006","journal-title":"Mol Ther"},{"key":"10.1038\/mt.2010.299_bib13","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1038\/mt.2009.71","article-title":"Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons","volume":"17","author":"Duque","year":"2009","journal-title":"Mol Ther"},{"key":"10.1038\/mt.2010.299_bib14","doi-asserted-by":"crossref","first-page":"e3","DOI":"10.1161\/01.RES.0000237661.18885.f6","article-title":"Recombinant adeno-associated virus serotype 9 leads to preferential cardiac transduction in vivo","volume":"99","author":"Pacak","year":"2006","journal-title":"Circ Res"},{"key":"10.1038\/mt.2010.299_bib15","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/nbt.1515","article-title":"Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes","volume":"27","author":"Foust","year":"2009","journal-title":"Nat Biotechnol"},{"key":"10.1038\/mt.2010.299_bib16","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/nbt.1610","article-title":"Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN","volume":"28","author":"Foust","year":"2010","journal-title":"Nat Biotechnol"},{"key":"10.1038\/mt.2010.299_bib17","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1016\/j.ymthe.2005.11.015","article-title":"Transduction characteristics of adeno-associated virus vectors expressing cap serotypes 7, 8, 9, and Rh10 in the mouse brain","volume":"13","author":"Cearley","year":"2006","journal-title":"Mol Ther"},{"key":"10.1038\/mt.2010.299_bib18","doi-asserted-by":"crossref","first-page":"2693","DOI":"10.1093\/hmg\/ddm223","article-title":"Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes","volume":"16","author":"Fraldi","year":"2007","journal-title":"Hum Mol Genet"},{"key":"10.1038\/mt.2010.299_bib19","doi-asserted-by":"crossref","first-page":"9321","DOI":"10.1523\/JNEUROSCI.2936-05.2005","article-title":"Functional correction of CNS phenotypes in a lysosomal storage disease model using adeno-associated virus type 4 vectors","volume":"25","author":"Liu","year":"2005","journal-title":"J Neurosci"},{"key":"10.1038\/mt.2010.299_bib20","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1038\/sj.gt.3302554","article-title":"Adeno-associated virus type 4 (AAV4) targets ependyma and astrocytes in the subventricular zone and RMS","volume":"12","author":"Liu","year":"2005","journal-title":"Gene Ther"},{"key":"10.1038\/mt.2010.299_bib21","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1016\/j.healun.2008.01.025","article-title":"Efficient and durable gene transfer to transplanted heart using adeno-associated virus 9 vector","volume":"27","author":"Miyagi","year":"2008","journal-title":"J Heart Lung Transplant"},{"key":"10.1038\/mt.2010.299_bib22","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1038\/mt.2008.133","article-title":"Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy","volume":"16","author":"Sun","year":"2008","journal-title":"Mol Ther"},{"key":"10.1038\/mt.2010.299_bib23","doi-asserted-by":"crossref","first-page":"11372","DOI":"10.1128\/JVI.01327-07","article-title":"Novel adeno-associated virus serotypes efficiently transduce murine photoreceptors","volume":"81","author":"Allocca","year":"2007","journal-title":"J Virol"},{"key":"10.1038\/mt.2010.299_bib24","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1038\/nm.2025","article-title":"Molecular signatures of disease brain endothelia provide new sites for CNS-directed enzyme therapy","volume":"15","author":"Chen","year":"2009","journal-title":"Nat Med"},{"key":"10.1038\/mt.2010.299_bib25","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1056\/NEJMoa1000228","article-title":"Dystrophin immunity in Duchenne's muscular dystrophy","volume":"363","author":"Mendell","year":"2010","journal-title":"N Engl J Med"},{"key":"10.1038\/mt.2010.299_bib26","doi-asserted-by":"crossref","first-page":"3227","DOI":"10.1128\/JVI.70.5.3227-3234.1996","article-title":"Second-strand synthesis is a rate-limiting step for efficient transduction by recombinant adeno-associated virus vectors","volume":"70","author":"Ferrari","year":"1996","journal-title":"J Virol"},{"key":"10.1038\/mt.2010.299_bib27","doi-asserted-by":"crossref","first-page":"2112","DOI":"10.1038\/sj.gt.3302134","article-title":"Adeno-associated virus terminal repeat (TR) mutant generates self-complementary vectors to overcome the rate-limiting step to transduction in vivo","volume":"10","author":"McCarty","year":"2003","journal-title":"Gene Ther"},{"key":"10.1038\/mt.2010.299_bib28","doi-asserted-by":"crossref","first-page":"2105","DOI":"10.1038\/sj.gt.3302133","article-title":"Rapid and highly efficient transduction by double-stranded adeno-associated virus vectors in vitro and in vivo","volume":"10","author":"Wang","year":"2003","journal-title":"Gene Ther"},{"key":"10.1038\/mt.2010.299_bib29","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1089\/hum.2004.15.1131","article-title":"Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis","volume":"15","author":"Crystal","year":"2004","journal-title":"Hum Gene Ther"},{"key":"10.1038\/mt.2010.299_bib30","doi-asserted-by":"crossref","first-page":"14777","DOI":"10.1073\/pnas.0506892102","article-title":"Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII","volume":"102","author":"Vogler","year":"2005","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1038\/mt.2010.299_bib31","doi-asserted-by":"crossref","first-page":"2443","DOI":"10.1038\/sj.emboj.7601695","article-title":"Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum","volume":"26","author":"Zito","year":"2007","journal-title":"EMBO J"},{"key":"10.1038\/mt.2010.299_bib32","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1093\/hmg\/ddm289","article-title":"A block of autophagy in lysosomal storage disorders","volume":"17","author":"Settembre","year":"2008","journal-title":"Hum Mol Genet"},{"key":"10.1038\/mt.2010.299_bib33","doi-asserted-by":"crossref","first-page":"113","DOI":"10.4161\/auto.5227","article-title":"Lysosomal storage diseases as disorders of autophagy","volume":"4","author":"Settembre","year":"2008","journal-title":"Autophagy"},{"key":"10.1038\/mt.2010.299_bib34","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1093\/hmg\/ddl038","article-title":"Correction of Hunter syndrome in the MPSII mouse model by AAV2\/8-mediated gene delivery","volume":"15","author":"Cardone","year":"2006","journal-title":"Hum Mol Genet"},{"key":"10.1038\/mt.2010.299_bib35","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1089\/hum.2009.189","article-title":"Different serum enzyme levels are required to rescue the various systemic features of the mucopolysaccharidoses","volume":"21","author":"Cotugno","year":"2010","journal-title":"Hum Gene Ther"},{"key":"10.1038\/mt.2010.299_bib36","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.brainres.2007.10.036","article-title":"Progression of multiple behavioral deficits with various ages of onset in a murine model of Hurler syndrome","volume":"1188","author":"Pan","year":"2008","journal-title":"Brain Res"},{"key":"10.1038\/mt.2010.299_bib37","doi-asserted-by":"crossref","first-page":"2231","DOI":"10.1056\/NEJMoa0802268","article-title":"Effect of gene therapy on visual function in Leber's congenital amaurosis","volume":"358","author":"Bainbridge","year":"2008","journal-title":"N Engl J Med"},{"key":"10.1038\/mt.2010.299_bib38","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1089\/hum.2008.107","article-title":"Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial","volume":"19","author":"Hauswirth","year":"2008","journal-title":"Hum Gene Ther"},{"key":"10.1038\/mt.2010.299_bib39","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1016\/S0140-6736(07)60982-9","article-title":"Safety and tolerability of gene therapy with an adeno-associated virus (AAV) borne GAD gene for Parkinson's disease: an open label, phase I trial","volume":"369","author":"Kaplitt","year":"2007","journal-title":"Lancet"},{"key":"10.1038\/mt.2010.299_bib40","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1016\/S0140-6736(09)61836-5","article-title":"Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial","volume":"374","author":"Maguire","year":"2009","journal-title":"Lancet"},{"key":"10.1038\/mt.2010.299_bib41","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/S1474-4422(08)70065-6","article-title":"Safety and tolerability of intraputaminal delivery of CERE-120 (adeno-associated virus serotype 2-neurturin) to patients with idiopathic Parkinson's disease: an open-label, phase I trial","volume":"7","author":"Marks","year":"2008","journal-title":"Lancet Neurol"},{"key":"10.1038\/mt.2010.299_bib42","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1038\/gt.2008.71","article-title":"AAV-mediated gene transfer for the treatment of hemophilia B: problems and prospects","volume":"15","author":"Hasbrouck","year":"2008","journal-title":"Gene Ther"},{"key":"10.1038\/mt.2010.299_bib43","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1089\/104303401450988","article-title":"Isolation of highly infectious and pure adeno-associated virus type 2 vectors with a single-step gravity-flow column","volume":"12","author":"Auricchio","year":"2001","journal-title":"Hum Gene Ther"},{"key":"10.1038\/mt.2010.299_bib44","doi-asserted-by":"crossref","first-page":"2079","DOI":"10.1089\/104303400750001390","article-title":"Purification of recombinant adeno-associated virus vectors by column chromatography and its performance in vivo","volume":"11","author":"Gao","year":"2000","journal-title":"Hum Gene Ther"},{"key":"10.1038\/mt.2010.299_bib45","doi-asserted-by":"crossref","first-page":"2610","DOI":"10.1093\/hmg\/ddn161","article-title":"Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44","volume":"17","author":"Fraldi","year":"2008","journal-title":"Hum Mol Genet"},{"key":"10.1038\/mt.2010.299_bib46","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1093\/clinchem\/35.7.1472","article-title":"Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses","volume":"35","author":"de Jong","year":"1989","journal-title":"Clin Chem"},{"key":"10.1038\/mt.2010.299_bib47","doi-asserted-by":"crossref","first-page":"3576","DOI":"10.1073\/pnas.0911792107","article-title":"Area-specific temporal control of corticospinal motor neuron differentiation by COUP-TFI","volume":"107","author":"Tomassy","year":"2010","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1038\/mt.2010.299_bib48","doi-asserted-by":"crossref","first-page":"2880","DOI":"10.1523\/JNEUROSCI.4196-09.2010","article-title":"Lack of Mid1, the mouse ortholog of the Opitz syndrome gene, causes abnormal development of the anterior cerebellar vermis","volume":"30","author":"Lancioni","year":"2010","journal-title":"J Neurosci"}],"container-title":["Molecular Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525001616318846?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525001616318846?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,6,16]],"date-time":"2020-06-16T15:56:23Z","timestamp":1592322983000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1525001616318846"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5]]},"references-count":48,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2011,5]]}},"alternative-id":["S1525001616318846"],"URL":"https:\/\/doi.org\/10.1038\/mt.2010.299","relation":{},"ISSN":["1525-0016"],"issn-type":[{"value":"1525-0016","type":"print"}],"subject":[],"published":{"date-parts":[[2011,5]]}}}