{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:57:57Z","timestamp":1772121477361,"version":"3.50.1"},"reference-count":98,"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":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,3,15]],"date-time":"2022-03-15T00:00:00Z","timestamp":1647302400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100003188","name":"National Tay-Sachs and Allied Diseases Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003188","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002426","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.2022.03.011","type":"journal-article","created":{"date-parts":[[2022,3,16]],"date-time":"2022-03-16T13:39:53Z","timestamp":1647437993000},"page":"170-189","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["Therapeutic advantages of combined gene\/cell therapy strategies in a murine model of GM2 gangliosidosis"],"prefix":"10.1016","volume":"25","author":[{"given":"Davide","family":"Sala","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Ornaghi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Morena","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Argentati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Valsecchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Alberizzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Di Guardo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Bolino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Aureli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabata","family":"Martino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9845-0370","authenticated-orcid":false,"given":"Angela","family":"Gritti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.omtm.2022.03.011_bib1","first-page":"663","article-title":"The GM1 and GM2 gangliosidoses: natural history and progress toward therapy","volume":"13","author":"Regier","year":"2016","journal-title":"Pediatr. Endocrinol. Rev."},{"key":"10.1016\/j.omtm.2022.03.011_bib2","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/S0925-4439(99)00074-5","article-title":"Biochemical consequences of mutations causing the GM2 gangliosidoses","volume":"1455","author":"Mahuran","year":"1999","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.omtm.2022.03.011_bib3","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1097\/00125817-200011000-00003","article-title":"The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci","volume":"2","author":"Cordeiro","year":"2000","journal-title":"Genet. Med."},{"key":"10.1016\/j.omtm.2022.03.011_bib4","doi-asserted-by":"crossref","first-page":"e1233","DOI":"10.1542\/peds.2011-0078","article-title":"Natural history of infantile G(M2) gangliosidosis","volume":"128","author":"Bley","year":"2011","journal-title":"Pediatrics"},{"key":"10.1016\/j.omtm.2022.03.011_bib5","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":"10.1016\/j.omtm.2022.03.011_bib6","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1038\/mt.2011.27","article-title":"Therapeutic potential of intracerebroventricular replacement of modified human \u03b2-hexosaminidase B for GM2 gangliosidosis","volume":"19","author":"Matsuoka","year":"2011","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtm.2022.03.011_bib7","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1016\/j.neuint.2007.12.001","article-title":"N-butyldeoxygalactonojirimycin reduces brain ganglioside and GM2 content in neonatal Sandhoff disease mice","volume":"52","author":"Baek","year":"2008","journal-title":"Neurochem. Int."},{"key":"10.1016\/j.omtm.2022.03.011_bib8","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/j.nbd.2004.04.012","article-title":"Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease","volume":"16","author":"Andersson","year":"2004","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.omtm.2022.03.011_bib9","doi-asserted-by":"crossref","first-page":"9150","DOI":"10.1074\/jbc.M609304200","article-title":"Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis","volume":"282","author":"Maegawa","year":"2007","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.omtm.2022.03.011_bib10","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.ymgme.2009.06.005","article-title":"Substrate reduction therapy in juvenile GM2 gangliosidosis","volume":"98","author":"Maegawa","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.omtm.2022.03.011_bib11","doi-asserted-by":"crossref","first-page":"S289","DOI":"10.1007\/s10545-009-1224-7","article-title":"Miglustat therapy in juvenile Sandhoff disease","volume":"32","author":"Tallaksen","year":"2009","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.omtm.2022.03.011_bib12","doi-asserted-by":"crossref","first-page":"S355","DOI":"10.1007\/s10545-010-9186-3","article-title":"Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up","volume":"33","author":"Masciullo","year":"2010","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.omtm.2022.03.011_bib13","doi-asserted-by":"crossref","first-page":"S307","DOI":"10.1007\/s10545-009-1261-2","article-title":"Substrate deprivation therapy in juvenile Sandhoff disease","volume":"32","author":"Wortmann","year":"2009","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.omtm.2022.03.011_bib14","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.ymgme.2010.09.004","article-title":"An open-label Phase I\/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants)","volume":"102","author":"Clarke","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.omtm.2022.03.011_bib15","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1212\/WNL.29.6.848","article-title":"Enzyme replacement in Tay-Sachs disease","volume":"29","author":"von Specht","year":"1979","journal-title":"Neurology"},{"key":"10.1016\/j.omtm.2022.03.011_bib16","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1097\/GIM.0b013e3181a1b5c5","article-title":"Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24\u00a0months of extended treatment","volume":"11","author":"Shapiro","year":"2009","journal-title":"Genet. Med."},{"key":"10.1016\/j.omtm.2022.03.011_bib17","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1038\/ng1095-170","article-title":"Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism","volume":"11","author":"Sango","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1016\/j.omtm.2022.03.011_bib18","doi-asserted-by":"crossref","first-page":"1881","DOI":"10.1172\/JCI2127","article-title":"Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice","volume":"101","author":"Norflus","year":"1998","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.omtm.2022.03.011_bib19","doi-asserted-by":"crossref","first-page":"10954","DOI":"10.1073\/pnas.97.20.10954","article-title":"Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation","volume":"97","author":"Wada","year":"2000","journal-title":"Proc. Natl. Acad. Sci. U\u00a0S\u00a0A"},{"key":"10.1016\/j.omtm.2022.03.011_bib20","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1016\/S0140-6736(95)92597-X","article-title":"Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation","volume":"345","author":"Hoogerbrugge","year":"1995","journal-title":"Lancet"},{"key":"10.1016\/j.omtm.2022.03.011_bib21","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1038\/sj.bmt.1705155","article-title":"Allogeneic BMT followed by substrate reduction therapy in a child with subacute Tay-Sachs disease","volume":"36","author":"Jacobs","year":"2005","journal-title":"Bone Marrow Transpl."},{"key":"10.1016\/j.omtm.2022.03.011_bib22","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1093\/hmg\/ddt459","article-title":"Reversibility of neuropathology in Tay-Sachs-related diseases","volume":"23","author":"Cachon-Gonzalez","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2022.03.011_bib23","doi-asserted-by":"crossref","first-page":"4371","DOI":"10.1093\/hmg\/ddr364","article-title":"Adeno-associated virus-mediated expression of beta-hexosaminidase prevents neuronal loss in the Sandhoff mouse brain","volume":"20","author":"Sargeant","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2022.03.011_bib24","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1038\/gt.2014.108","article-title":"Widespread correction of central nervous system disease after intracranial gene therapy in a feline model of Sandhoff disease","volume":"22","author":"McCurdy","year":"2015","journal-title":"Gene Ther."},{"key":"10.1016\/j.omtm.2022.03.011_bib25","doi-asserted-by":"crossref","DOI":"10.1177\/1759091415569908","article-title":"AAV-mediated gene delivery in a feline model of Sandhoff disease corrects lysosomal storage in the central nervous system","volume":"7","author":"Rockwell","year":"2015","journal-title":"ASN Neuro."},{"key":"10.1016\/j.omtm.2022.03.011_bib26","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.expneurol.2014.09.020","article-title":"Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease","volume":"263","author":"Bradbury","year":"2015","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.omtm.2022.03.011_bib27","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1038\/s41591-021-01664-4","article-title":"AAV gene therapy for Tay-Sachs disease","volume":"28","author":"Flotte","year":"2022","journal-title":"Nature Medicine"},{"key":"10.1016\/j.omtm.2022.03.011_bib28","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1089\/hum.2016.109","article-title":"Direct intracranial injection of AAVrh8 encoding monkey \u03b2-N-acetylhexosaminidase causes neurotoxicity in the primate brain","volume":"28","author":"Golebiowski","year":"2017","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.omtm.2022.03.011_bib29","doi-asserted-by":"crossref","first-page":"321","DOI":"10.2174\/156652311796150354","article-title":"Immune responses to AAV in clinical trials","volume":"11","author":"Mingozzi","year":"2011","journal-title":"Curr. Gene Ther."},{"key":"10.1016\/j.omtm.2022.03.011_bib30","doi-asserted-by":"crossref","first-page":"1306","DOI":"10.1038\/mt.2013.86","article-title":"Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy","volume":"21","author":"Bradbury","year":"2013","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtm.2022.03.011_bib31","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1089\/hum.2020.167","article-title":"Adeno-associated virus-induced dorsal root ganglion pathology","volume":"31","author":"Hordeaux","year":"2020","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.omtm.2022.03.011_bib32","doi-asserted-by":"crossref","first-page":"2208","DOI":"10.1093\/hmg\/ddq099","article-title":"Widespread enzymatic correction of CNS tissues by a single intracerebral injection of therapeutic lentiviral vector in leukodystrophy mouse models","volume":"19","author":"Lattanzi","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2022.03.011_bib33","doi-asserted-by":"crossref","first-page":"3250","DOI":"10.1093\/hmg\/ddu034","article-title":"Therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model of globoid cell leukodystrophy","volume":"23","author":"Lattanzi","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2022.03.011_bib34","doi-asserted-by":"crossref","first-page":"1138","DOI":"10.1016\/S0140-6736(13)61939-X","article-title":"Long-term safety and tolerability of ProSavin, a lentiviral vector-based gene therapy for Parkinson\u2019s disease: a dose escalation, open-label, phase 1\/2 trial","volume":"383","author":"Palfi","year":"2014","journal-title":"Lancet"},{"key":"10.1016\/j.omtm.2022.03.011_bib35","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1089\/humc.2018.081","article-title":"Long-term follow-up of a phase I\/II study of ProSavin, a lentiviral vector gene therapy for Parkinson\u2019s disease","volume":"29","author":"Palfi","year":"2018","journal-title":"Hum. Gene Ther. Clin. Dev."},{"key":"10.1016\/j.omtm.2022.03.011_bib36","doi-asserted-by":"crossref","first-page":"489","DOI":"10.15252\/emmm.201505850","article-title":"Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe-affected non-human primates by intracerebral lentiviral gene therapy","volume":"8","author":"Meneghini","year":"2016","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.omtm.2022.03.011_bib37","doi-asserted-by":"crossref","first-page":"104667","DOI":"10.1016\/j.nbd.2019.104667","article-title":"Novel bicistronic lentiviral vectors correct \u03b2-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in\u00a0vivo and ex\u00a0vivo gene therapy of GM2 gangliosidosis","volume":"134","author":"Ornaghi","year":"2020","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.omtm.2022.03.011_bib38","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.neures.2019.07.004","article-title":"Abnormal organization during neurodevelopment in a mouse model of Sandhoff disease","volume":"155","author":"Ogawa","year":"2019","journal-title":"Neurosci. Res."},{"key":"10.1016\/j.omtm.2022.03.011_bib39","doi-asserted-by":"crossref","first-page":"e0178978","DOI":"10.1371\/journal.pone.0178978","article-title":"Abnormal differentiation of Sandhoff disease model mouse-derived multipotent stem cells toward a neural lineage","volume":"12","author":"Ogawa","year":"2017","journal-title":"PLoS One"},{"key":"10.1016\/j.omtm.2022.03.011_bib40","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1620\/tjem.118.323","article-title":"Prenatal diagnosis and fetal pathology of Tay-Sachs disease","volume":"118","author":"Higami","year":"1976","journal-title":"Tohoku J. Exp. Med."},{"key":"10.1016\/j.omtm.2022.03.011_bib41","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1620\/tjem.111.87","article-title":"Prenatal diagnosis of the Hurler syndrome: mucopolysaccharide pattern in amniotic fluid","volume":"111","author":"Omura","year":"1973","journal-title":"Tohoku J. Exp. Med."},{"key":"10.1016\/j.omtm.2022.03.011_bib42","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1620\/tjem.125.11","article-title":"Prenatal diagnosis and fetal pathology of Niemann-Pick disease","volume":"125","author":"Higami","year":"1978","journal-title":"Tohoku J. Exp. Med."},{"key":"10.1016\/j.omtm.2022.03.011_bib43","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1126\/science.6719111","article-title":"Progressive accumulation of toxic metabolite in a genetic leukodystrophy","volume":"224","author":"Igisu","year":"1984","journal-title":"Science"},{"key":"10.1016\/j.omtm.2022.03.011_bib44","doi-asserted-by":"crossref","first-page":"4732","DOI":"10.1093\/hmg\/dds313","article-title":"The galactocerebrosidase enzyme contributes to maintain a functional neurogenic niche during early post-natal CNS development","volume":"21","author":"Santambrogio","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2022.03.011_bib45","first-page":"729","article-title":"Developing therapeutic approaches for metachromatic leukodystrophy","volume":"7","author":"Patil","year":"2013","journal-title":"Drug Des. Devel. Ther."},{"key":"10.1016\/j.omtm.2022.03.011_bib46","doi-asserted-by":"crossref","first-page":"10195","DOI":"10.1523\/JNEUROSCI.0822-13.2013","article-title":"Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis","volume":"33","author":"Sandhoff","year":"2013","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.omtm.2022.03.011_bib47","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1097\/WNR.0000000000001060","article-title":"Improvement in dysmyelination by the inhibition of microglial activation in a mouse model of Sandhoff disease","volume":"29","author":"Ogawa","year":"2018","journal-title":"Neuroreport"},{"key":"10.1016\/j.omtm.2022.03.011_bib48","doi-asserted-by":"crossref","first-page":"e83455","DOI":"10.1371\/journal.pone.0083455","article-title":"Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases","volume":"8","author":"Hasegawa","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.omtm.2022.03.011_bib49","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1007\/s11064-012-0718-0","article-title":"Therapeutic effects of stem cells and substrate reduction in juvenile Sandhoff mice","volume":"37","author":"Arthur","year":"2012","journal-title":"Neurochem. Res."},{"key":"10.1016\/j.omtm.2022.03.011_bib50","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1038\/nm1548","article-title":"Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease","volume":"13","author":"Lee","year":"2007","journal-title":"Nat. Med."},{"key":"10.1016\/j.omtm.2022.03.011_bib51","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1182\/blood.V97.1.327","article-title":"Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation","volume":"97","author":"Jeyakumar","year":"2001","journal-title":"Blood"},{"key":"10.1016\/j.omtm.2022.03.011_bib52","doi-asserted-by":"crossref","first-page":"3372","DOI":"10.1093\/hmg\/ddv086","article-title":"Combined gene\/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy","volume":"24","author":"Ricca","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2022.03.011_bib53","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.nbd.2008.12.019","article-title":"Monitoring disease evolution and treatment response in lysosomal disorders by the peripheral benzodiazepine receptor ligand PK11195","volume":"34","author":"Visigalli","year":"2009","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.omtm.2022.03.011_bib54","doi-asserted-by":"crossref","first-page":"15018","DOI":"10.1073\/pnas.1205858109","article-title":"Brain conditioning is instrumental for successful microglia reconstitution following hematopoietic stem cell transplantation","volume":"109","author":"Capotondo","year":"2012","journal-title":"Proc. Natl. Acad. Sci. U\u00a0S\u00a0A"},{"key":"10.1016\/j.omtm.2022.03.011_bib55","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1016\/j.bbamcr.2008.12.001","article-title":"Lysosomal disorders: from storage to cellular damage","volume":"1793","author":"Ballabio","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.omtm.2022.03.011_bib56","first-page":"1","article-title":"Decrease in myelin-associated lipids precedes neuronal loss and glial activation in the CNS of the sandhoff mouse as determined by metabolomics","volume":"11","author":"Lecommandeur","year":"2021","journal-title":"Metabolites"},{"key":"10.1016\/j.omtm.2022.03.011_bib57","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1093\/brain\/awg089","article-title":"Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis","volume":"126","author":"Jeyakumar","year":"2003","journal-title":"Brain"},{"key":"10.1016\/j.omtm.2022.03.011_bib58","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1177\/0300985810388522","article-title":"Pathology of GM2 gangliosidosis in Jacob sheep","volume":"48","author":"Porter","year":"2011","journal-title":"Vet. Pathol."},{"key":"10.1016\/j.omtm.2022.03.011_bib59","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1007\/s11745-008-3268-0","article-title":"Comparative analysis of brain lipids in mice, cats, and humans with Sandhoff disease","volume":"44","author":"Baek","year":"2009","journal-title":"Lipids"},{"key":"10.1016\/j.omtm.2022.03.011_bib60","doi-asserted-by":"crossref","DOI":"10.1093\/hmg\/ddt459","article-title":"Reversibility of neuropathology in tay-sachs-related diseases","author":"Cach\u00f3n-Gonz\u00e1lez","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2022.03.011_bib61","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/BF00691417","article-title":"The white matter in G M2 gangliosidosis. A comparative histopathological and biochemical study","volume":"24","author":"Haberland","year":"1973","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.omtm.2022.03.011_bib62","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1477-5751-6-8","article-title":"Peripheral nervous system manifestations in a Sandhoff disease mouse model: nerve conduction, myelin structure, lipid analysis","volume":"6","author":"McNally","year":"2007","journal-title":"J.\u00a0Negat. Results Biomed."},{"key":"10.1016\/j.omtm.2022.03.011_bib63","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1046\/j.1365-2990.2002.00366.x","article-title":"Lysosomal storage results in impaired survival but normal neurite outgrowth in dorsal root ganglion neurones from a mouse model of Sandhoff disease","volume":"28","author":"Sango","year":"2002","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"10.1016\/j.omtm.2022.03.011_bib64","doi-asserted-by":"crossref","first-page":"10373","DOI":"10.1073\/pnas.0603765103","article-title":"Effective gene therapy in an authentic model of Tay-Sachs-related diseases","volume":"103","author":"Cachon-Gonzalez","year":"2006","journal-title":"Proc. Natl. Acad. Sci. U\u00a0S\u00a0A"},{"key":"10.1016\/j.omtm.2022.03.011_bib65","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1038\/mt.2012.44","article-title":"Gene transfer corrects acute GM2 gangliosidosis--potential therapeutic contribution of perivascular enzyme flow","volume":"20","author":"Cachon-Gonzalez","year":"2012","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtm.2022.03.011_bib66","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.omtm.2018.10.011","article-title":"Efficacy of a bicistronic vector for correction of sandhoff disease in a mouse model","volume":"12","author":"Woodley","year":"2019","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.omtm.2022.03.011_bib67","doi-asserted-by":"crossref","first-page":"2150","DOI":"10.1016\/j.ymthe.2020.06.021","article-title":"Pronounced therapeutic benefit of a single bidirectional AAV vector administered systemically in sandhoff mice","volume":"28","author":"Lahey","year":"2020","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtm.2022.03.011_bib68","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1093\/hmg\/ddy012","article-title":"Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in sandhoff disease mice","volume":"27","author":"Niemir","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2022.03.011_bib69","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1089\/hum.2016.015","article-title":"Systemic gene transfer of a hexosaminidase variant using an scAAV9.47 vector corrects GM2 gangliosidosis in sandhoff mice","volume":"27","author":"Osmon","year":"2016","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.omtm.2022.03.011_bib70","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1182\/blood-2013-01-306647","article-title":"Immune responses to AAV vectors: overcoming barriers to successful gene therapy","volume":"122","author":"Mingozzi","year":"2013","journal-title":"Blood"},{"key":"10.1016\/j.omtm.2022.03.011_bib71","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1007\/PL00007420","article-title":"Distribution of enzyme-bearing cells in GM2 gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation","volume":"99","author":"Oya","year":"2000","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.omtm.2022.03.011_bib72","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.pcl.2009.11.004","article-title":"Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders","volume":"57","author":"Boelens","year":"2010","journal-title":"Pediatr. Clin. North Am."},{"key":"10.1016\/j.omtm.2022.03.011_bib73","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/s41576-020-00298-5","article-title":"Gene therapy using haematopoietic stem and progenitor cells","volume":"22","author":"Ferrari","year":"2021","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.omtm.2022.03.011_bib74","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1038\/mt.2012.44","article-title":"Gene transfer corrects acute GM2 gangliosidosis\u2014potential therapeutic contribution of perivascular enzyme flow","volume":"20","author":"Bego\u00f1a Cach\u00f3n-Gonz\u00e1lez","year":"2012","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtm.2022.03.011_bib75","doi-asserted-by":"crossref","first-page":"2113","DOI":"10.1093\/hmg\/ddi216","article-title":"A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease","volume":"14","author":"Martino","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2022.03.011_bib76","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fimmu.2018.00697","article-title":"Brain-resident microglia and blood-borne macrophages orchestrate central nervous system inflammation in neurodegenerative disorders and brain cancer","volume":"9","author":"Sevenich","year":"2018","journal-title":"Front. Immunol."},{"key":"10.1016\/j.omtm.2022.03.011_bib77","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1016\/j.immuni.2017.06.006","article-title":"Reactive astrocytes: production, function, and therapeutic potential","volume":"46","author":"Liddelow","year":"2017","journal-title":"Immunity"},{"key":"10.1016\/j.omtm.2022.03.011_bib78","series-title":"Microglia in Health and Disease","first-page":"486","author":"Tremblay","year":"2014"},{"key":"10.1016\/j.omtm.2022.03.011_bib79","doi-asserted-by":"crossref","first-page":"68","DOI":"10.2174\/1566523218666180404162622","article-title":"Genetics and therapies for GM2 gangliosidosis","volume":"18","author":"Cachon-Gonzalez","year":"2018","journal-title":"Curr. Gene Ther."},{"key":"10.1016\/j.omtm.2022.03.011_bib80","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.1093\/hmg\/6.11.1879","article-title":"Apoptotic cell death in mouse models of G(M2) gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases","volume":"6","author":"Huang","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2022.03.011_bib81","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/j.nmd.2021.04.011","article-title":"Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering","volume":"31","author":"Alonso-P\u00e9rez","year":"2021","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.omtm.2022.03.011_bib82","first-page":"2259","article-title":"Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis","volume":"268","author":"H\u00f6lzer","year":"2021","journal-title":"J.\u00a0Neurol."},{"key":"10.1016\/j.omtm.2022.03.011_bib83","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1016\/j.ymgme.2021.06.008","article-title":"Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis","volume":"133","author":"Rowe","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.omtm.2022.03.011_bib84","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1002\/ana.25689","article-title":"Natural history of adult patients with GM2 gangliosidosis","volume":"87","author":"Masingue","year":"2020","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.omtm.2022.03.011_bib85","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.jcpa.2013.10.003","article-title":"GM2 gangliosidosis in British Jacob sheep","volume":"150","author":"Wessels","year":"2014","journal-title":"J.\u00a0Comp. Pathol."},{"key":"10.1016\/j.omtm.2022.03.011_bib86","doi-asserted-by":"crossref","first-page":"8138","DOI":"10.1073\/pnas.94.15.8138","article-title":"Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment","volume":"94","author":"Liu","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U\u00a0S\u00a0A"},{"key":"10.1016\/j.omtm.2022.03.011_bib87","first-page":"1219","article-title":"White matter changes associated with feline GM2 gangliosidosis (Sandhoff disease): correlation of MR findings with pathologic and ultrastructural abnormalities","volume":"16","author":"Kroll","year":"1995","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"10.1016\/j.omtm.2022.03.011_bib88","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1111\/jvim.15041","article-title":"Two-Year follow-up magnetic resonance imaging and spectroscopy findings and cerebrospinal fluid analysis of a dog with Sandhoff\u2019s disease","volume":"32","author":"Ito","year":"2018","journal-title":"J.\u00a0Vet. Intern. Med."},{"key":"10.1016\/j.omtm.2022.03.011_bib89","doi-asserted-by":"crossref","first-page":"S59","DOI":"10.1016\/j.ymgme.2019.11.135","article-title":"Lentiviral hematopoietic stem and progenitor cell gene therapy (HSPC-GT) for metachromatic leukodystrophy (MLD): clinical outcomes from 33 patients","volume":"129","author":"Fumagalli","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.omtm.2022.03.011_bib90","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.2022.03.011_bib91","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1056\/NEJMoa2106596","article-title":"Hematopoietic stem- and progenitor-cell gene therapy for Hurler syndrome","volume":"385","author":"Gentner","year":"2021","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.omtm.2022.03.011_bib92","doi-asserted-by":"crossref","first-page":"e1701211","DOI":"10.1126\/sciadv.1701211","article-title":"Intracerebroventricular delivery of hematopoietic progenitors results in rapid and robust engraftment of microglia-like cells","volume":"3","author":"Capotondo","year":"2017","journal-title":"Sci. Adv."},{"key":"10.1016\/j.omtm.2022.03.011_bib93","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1111\/j.1471-4159.2009.05919.x","article-title":"Neural precursor cell cultures from GM2 gangliosidosis animal models recapitulate the biochemical and molecular hallmarks of the brain pathology","volume":"109","author":"Martino","year":"2009","journal-title":"J.\u00a0Neurochem."},{"key":"10.1016\/j.omtm.2022.03.011_bib94","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/nmeth.2019","article-title":"Fiji: an open-source platform for biological-image analysis","volume":"9","author":"Schindelin","year":"2012","journal-title":"Nat. Methods"},{"key":"10.1016\/j.omtm.2022.03.011_bib95","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1083\/jcb.148.5.1021","article-title":"P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves","volume":"148","author":"Wrabetz","year":"2000","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.omtm.2022.03.011_bib96","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pbio.1002440","article-title":"Kif13b regulates PNS and CNS myelination through the Dlg1 Scaffold","volume":"14","author":"Noseda","year":"2016","journal-title":"PLoS Biol."},{"key":"10.1016\/j.omtm.2022.03.011_bib97","doi-asserted-by":"crossref","first-page":"5685","DOI":"10.1096\/fj.201701512RR","article-title":"A lysosome\u2013plasma membrane\u2013sphingolipid axis linking lysosomal storage to cell growth arrest","volume":"32","author":"Samarani","year":"2018","journal-title":"FASEB J."},{"key":"10.1016\/j.omtm.2022.03.011_bib98","doi-asserted-by":"crossref","first-page":"1832","DOI":"10.1194\/jlr.M004010","article-title":"Sphingolipidomics of A2780 human ovarian carcinoma cells treated with synthetic retinoids","volume":"51","author":"Valsecchi","year":"2010","journal-title":"J.\u00a0Lipid Res."}],"container-title":["Molecular Therapy - Methods & Clinical Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2329050122000419?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2329050122000419?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T09:33:21Z","timestamp":1762421601000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2329050122000419"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6]]},"references-count":98,"alternative-id":["S2329050122000419"],"URL":"https:\/\/doi.org\/10.1016\/j.omtm.2022.03.011","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2021.12.22.473777","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":"Therapeutic advantages of combined gene\/cell therapy strategies in a murine model of GM2 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.2022.03.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Author(s).","name":"copyright","label":"Copyright"}]}}