{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T17:37:40Z","timestamp":1768671460983,"version":"3.49.0"},"reference-count":49,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,4,26]],"date-time":"2022-04-26T00:00:00Z","timestamp":1650931200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP18H02783"],"award-info":[{"award-number":["JP18H02783"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000646","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000646","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Therapy - Methods & Clinical Development"],"published-print":{"date-parts":[[2022,6]]},"DOI":"10.1016\/j.omtm.2022.04.012","type":"journal-article","created":{"date-parts":[[2022,4,28]],"date-time":"2022-04-28T06:10:27Z","timestamp":1651126227000},"page":"448-460","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"special_numbering":"C","title":["Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis"],"prefix":"10.1016","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0029-2659","authenticated-orcid":false,"given":"Toshiki","family":"Tsunogai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9932-0631","authenticated-orcid":false,"given":"Toya","family":"Ohashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yohta","family":"Shimada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Higuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayaka","family":"Kimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayako M.","family":"Watabe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fusao","family":"Kato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Ida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.omtm.2022.04.012_bib1","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1126\/science.160.3831.1002","article-title":"Generalized gangliosidosis, beta-galactosidase deficiency","volume":"160","author":"Okada","year":"1968","journal-title":"Science"},{"key":"10.1016\/j.omtm.2022.04.012_bib2","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1001\/archpedi.1965.02090020340014","article-title":"Generalized gangliosidosis, another inborn error of ganglioside metabolism?","volume":"109","author":"O'Brien","year":"1965","journal-title":"Am. J. Dis. Child."},{"key":"10.1016\/j.omtm.2022.04.012_bib3","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1126\/science.159.3822.1471","article-title":"Cerebral GM1-gangliosidosis, chemical pathology of visceral organs","volume":"159","author":"Suzuki","year":"1968","journal-title":"Science"},{"key":"10.1016\/j.omtm.2022.04.012_bib4","series-title":"The Online Metabolic and Molecular Bases of Inherited Disease","first-page":"1","article-title":"\u03b2-Galactosidase deficiency (\u03b2-Galactosidosis): GM1 gangliosidosis and morquio B disease","author":"Suzuki","year":"2008"},{"key":"10.1016\/j.omtm.2022.04.012_bib5","doi-asserted-by":"crossref","first-page":"1487","DOI":"10.1038\/sj.gt.3302033","article-title":"Attenuation of ganglioside GM1 accumulation in the brain of GM1 gangliosidosis mice by neonatal intravenous gene transfer","volume":"10","author":"Takaura","year":"2003","journal-title":"Gene Ther."},{"key":"10.1016\/j.omtm.2022.04.012_bib6","doi-asserted-by":"crossref","first-page":"2259","DOI":"10.1182\/blood-2005-03-1189","article-title":"Chemokine-induced recruitment of genetically modified bone marrow cells into the CNS of GM1-gangliosidosis mice corrects neuronal pathology","volume":"106","author":"Sano","year":"2005","journal-title":"Blood"},{"key":"10.1016\/j.omtm.2022.04.012_bib7","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1089\/hum.2018.206","article-title":"A single injection of an optimized adeno-associated viral vector into cerebrospinal fluid corrects neurological disease in a murine model of GM1 gangliosidosis","volume":"31","author":"Hinderer","year":"2020","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.omtm.2022.04.012_bib8","doi-asserted-by":"crossref","first-page":"4353","DOI":"10.1093\/hmg\/ddv168","article-title":"Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan","volume":"24","author":"Weismann","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2022.04.012_bib9","doi-asserted-by":"crossref","first-page":"231ra48","DOI":"10.1126\/scitranslmed.3007733","article-title":"Sustained normalization of neurological disease after intracranial gene therapy in a feline model","volume":"6","author":"McCurdy","year":"2014","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.omtm.2022.04.012_bib10","doi-asserted-by":"crossref","first-page":"e13468","DOI":"10.1371\/journal.pone.0013468","article-title":"AAV-mediated gene delivery in adult GM1-gangliosidosis mice corrects lysosomal storage in CNS and improves survival","volume":"5","author":"Baek","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.omtm.2022.04.012_bib11","doi-asserted-by":"crossref","first-page":"9933","DOI":"10.1128\/JVI.79.15.9933-9944.2005","article-title":"Packaging capacity of adeno-associated virus serotypes: impact of larger genomes on infectivity and postentry steps","volume":"79","author":"Grieger","year":"2005","journal-title":"J.\u00a0Virol."},{"key":"10.1016\/j.omtm.2022.04.012_bib12","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.2174\/1389201015666140327141710","article-title":"Developing immunologically inert adeno-associated virus (AAV) vectors for gene therapy: possibilities and limitations","volume":"14","author":"Selot","year":"2014","journal-title":"Curr. Pharm. Biotechnol."},{"key":"10.1016\/j.omtm.2022.04.012_bib13","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1172\/JCI200419205","article-title":"Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells","volume":"113","author":"Biffi","year":"2004","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.omtm.2022.04.012_bib14","doi-asserted-by":"crossref","first-page":"5130","DOI":"10.1182\/blood-2010-04-278234","article-title":"Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects mucopolysaccharidosis type I phenotype in the mouse model","volume":"116","author":"Visigalli","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.omtm.2022.04.012_bib15","doi-asserted-by":"crossref","first-page":"e8730","DOI":"10.15252\/emmm.201708730","article-title":"Brain-targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms","volume":"10","author":"Gleitz","year":"2018","journal-title":"Embo. Mol. Med."},{"key":"10.1016\/j.omtm.2022.04.012_bib16","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1089\/hum.2014.158","article-title":"Hematopoietic stem cell gene therapy corrects neuropathic phenotype in murine model of mucopolysaccharidosis type II","volume":"26","author":"Wakabayashi","year":"2015","journal-title":"Hum. Gene. Ther."},{"key":"10.1016\/j.omtm.2022.04.012_bib17","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.ymgme.2020.06.007","article-title":"Efficient engraftment of genetically modified cells is necessary to ameliorate central nervous system involvement of murine model of mucopolysaccharidosis type II by hematopoietic stem cell targeted gene therapy","volume":"130","author":"Miwa","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.omtm.2022.04.012_bib18","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.omtm.2020.09.012","article-title":"Ex-vivo gene therapy treats bone complications of mucopolysaccharidosis type II mouse models through bone remodeling reactivation","volume":"19","author":"Wada","year":"2020","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.omtm.2022.04.012_bib19","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1038\/mt.2012.82","article-title":"Hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA mice","volume":"20","author":"Langford-Smith","year":"2012","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtm.2022.04.012_bib20","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1016\/S0140-6736(16)30374-9","article-title":"Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1\/2 trial","volume":"388","author":"Sessa","year":"2016","journal-title":"Lancet"},{"key":"10.1016\/j.omtm.2022.04.012_bib21","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/j.omtm.2019.11.023","article-title":"7T MRI predicts amelioration of neurodegeneration in the brain after AAV gene therapy","volume":"17","author":"Gray-Edwards","year":"2020","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.omtm.2022.04.012_bib22","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.pediatrneurol.2003.09.003","article-title":"The status of hematopoietic stem cell transplantation in lysosomal storage disease","volume":"29","author":"Malatack","year":"2003","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.omtm.2022.04.012_bib23","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. U\u00a0S\u00a0A"},{"key":"10.1016\/j.omtm.2022.04.012_bib24","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1186\/s13023-015-0356-0","article-title":"Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II","volume":"10","author":"Cho","year":"2015","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/j.omtm.2022.04.012_bib25","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1159\/000112332","article-title":"Partial enzyme deficiencies: residual activities and the development of neurological disorders","volume":"6","author":"Conzelmann","year":"1983","journal-title":"Dev. Neurosci."},{"key":"10.1016\/j.omtm.2022.04.012_bib26","first-page":"7","article-title":"Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activities","volume":"3","author":"Suzuki","year":"2009","journal-title":"Perspect. Med. Chem."},{"key":"10.1016\/j.omtm.2022.04.012_bib27","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1023\/A:1018573518127","article-title":"Beta-galactosidase-deficient mouse as an animal model for GM1-gangliosidosis.","volume":"14","author":"Matsuda","year":"1997","journal-title":"Glycoconjugate J."},{"key":"10.1016\/j.omtm.2022.04.012_bib28","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/S0387-7604(01)00244-3","article-title":"Development of lysosomal storage in mice with targeted disruption of the \u03b2-galactosidase gene: a model of human GM1-gangliosidosis","volume":"23","author":"Itoh","year":"2001","journal-title":"Brain Dev."},{"key":"10.1016\/j.omtm.2022.04.012_bib29","doi-asserted-by":"crossref","first-page":"3070","DOI":"10.1172\/JCI28873","article-title":"Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice","volume":"116","author":"Biffi","year":"2006","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.omtm.2022.04.012_bib30","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1089\/hum.2019.016","article-title":"Assessing the impact of cyclosporin A on lentiviral transduction and preservation of human hematopoietic stem cells in clinically relevant ex-vivo gene therapy settings","volume":"30","author":"Petrillo","year":"2019","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.omtm.2022.04.012_bib31","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.ymthe.2017.09.025","article-title":"Prostaglandin E2 increases lentiviral vector transduction efficiency of adult human hematopoietic stem and progenitor cells","volume":"26","author":"Heffner","year":"2018","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtm.2022.04.012_bib32","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.omtm.2019.01.005","article-title":"High-efficiency lentiviral transduction of human CD34+ cells in high-density culture with poloxamer and prostaglandin E2","volume":"13","author":"Uchida","year":"2019","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.omtm.2022.04.012_bib33","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1016\/j.ymthe.2018.02.032","article-title":"A blood-brain-barrier-penetrating anti-human transferrin receptor antibody fusion protein for neuronopathic mucopolysaccharidosis II","volume":"26","author":"Sonoda","year":"2018","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtm.2022.04.012_bib34","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1002\/acn3.292","article-title":"Ambroxol chaperone therapy for neuronopathic Gaucher disease: a pilot study","volume":"3","author":"Narita","year":"2016","journal-title":"Ann. Clin. Transl. Neur."},{"key":"10.1016\/j.omtm.2022.04.012_bib35","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1056\/NEJMoa1510198","article-title":"Treatment of fabry\u2019s disease with the pharmacologic chaperone migalastat","volume":"375","author":"Germain","year":"2016","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.omtm.2022.04.012_bib36","doi-asserted-by":"crossref","first-page":"15912","DOI":"10.1073\/pnas.2536657100","article-title":"Chemical chaperone therapy for brain pathology in GM1-gangliosidosis","volume":"100","author":"Matsuda","year":"2003","journal-title":"Proc. Natl. Acad. Sci. U\u00a0S\u00a0A"},{"key":"10.1016\/j.omtm.2022.04.012_bib37","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1126\/science.1088547","article-title":"LMO2-Associated clonal T\u00a0cell proliferation in two patients after gene therapy for SCID-X1","volume":"302","author":"Hacein-Bey-Abina","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.omtm.2022.04.012_bib38","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1038\/nm.2088","article-title":"Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease","volume":"16","author":"Stein","year":"2010","journal-title":"Nat. Med."},{"key":"10.1016\/j.omtm.2022.04.012_bib39","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1038\/nature09328","article-title":"Transfusion independence and HMGA2 activation after gene therapy of human \u03b2-thalassaemia.","volume":"467","author":"Cavazzana-Calvo","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.omtm.2022.04.012_bib40","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.ymthe.2020.09.030","article-title":"Hematopoietic tumors in a mouse model of X-linked chronic granulomatous disease after lentiviral vector-mediated gene therapy","volume":"29","author":"Jofra Hern\u00e1ndez","year":"2021","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtm.2022.04.012_bib41","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1093\/glycob\/cwl003","article-title":"Cholera toxin B subunit binding does not correlate with GM1 expression: a study using mouse embryonic neural precursor cells","volume":"16","author":"Yanagisawa","year":"2006","journal-title":"Glycobiology"},{"key":"10.1016\/j.omtm.2022.04.012_bib42","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1093\/hmg\/6.2.205","article-title":"Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid \u03b2-galactosidase","volume":"6","author":"Hahn","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2022.04.012_bib43","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1016\/j.ymthe.2004.10.006","article-title":"Neonatal gene therapy of MPS I mice by intravenous injection of a lentiviral vector","volume":"11","author":"Kobayashi","year":"2005","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtm.2022.04.012_bib44","doi-asserted-by":"crossref","first-page":"2286","DOI":"10.1182\/blood-2005-03-1172","article-title":"Tolerance induction by lentiviral gene therapy with a nonmyeloablative regimen","volume":"107","author":"Mitsuhashi","year":"2006","journal-title":"Blood"},{"key":"10.1016\/j.omtm.2022.04.012_bib45","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1038\/sj.mt.6300180","article-title":"Lentiviral vectors with CMV or MHCII promoters administered in\u00a0vivo: immune reactivity versus persistence of expression","volume":"15","author":"Kimura","year":"2007","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtm.2022.04.012_bib46","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.ymgme.2013.09.013","article-title":"Enzyme augmentation therapy enhances the therapeutic efficacy of bone marrow transplantation in mucopolysaccharidosis type II mice","volume":"111","author":"Akiyama","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.omtm.2022.04.012_bib47","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1023\/B:BIGI.0000034429.55418.71","article-title":"Inheritance of lysosomal acid \u03b2-galactosidase activity and gangliosides in crosses of DBA\/2J and knockout mice","volume":"42","author":"Hauser","year":"2004","journal-title":"Biochem. Genet."},{"key":"10.1016\/j.omtm.2022.04.012_bib48","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/S0021-9258(18)64849-5","article-title":"A simple method for the isolation and purification of total lipids from animal tissues","volume":"226","author":"Folch","year":"1957","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.omtm.2022.04.012_bib49","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/8904_2014_345","article-title":"Proteasome inhibitor bortezomib enhances the activity of multiple mutant forms of lysosomal \u03b1-glucosidase in pompe disease","volume":"18","author":"Shimada","year":"2014","journal-title":"JIMD Rep."}],"updated-by":[{"DOI":"10.1016\/j.omtm.2022.09.004","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2022,12,8]],"date-time":"2022-12-08T00:00:00Z","timestamp":1670457600000}}],"container-title":["Molecular Therapy - Methods & Clinical Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2329050122000602?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2329050122000602?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,9,21]],"date-time":"2022-09-21T21:39:54Z","timestamp":1663796394000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2329050122000602"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6]]},"references-count":49,"alternative-id":["S2329050122000602"],"URL":"https:\/\/doi.org\/10.1016\/j.omtm.2022.04.012","relation":{"erratum":[{"id-type":"doi","id":"10.1016\/j.omtm.2022.09.004","asserted-by":"object"}]},"ISSN":["2329-0501"],"issn-type":[{"value":"2329-0501","type":"print"}],"subject":[],"published":{"date-parts":[[2022,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis","name":"articletitle","label":"Article Title"},{"value":"Molecular Therapy - Methods & Clinical Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.omtm.2022.04.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Authors.","name":"copyright","label":"Copyright"}]}}