{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T05:06:09Z","timestamp":1790744769891,"version":"4.1.0"},"reference-count":61,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T00:00:00Z","timestamp":1718064000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RC5X1000"],"award-info":[{"award-number":["RC5X1000"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010663","name":"European Research Council","doi-asserted-by":"publisher","award":["825713"],"award-info":[{"award-number":["825713"]}],"id":[{"id":"10.13039\/100010663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-10-IAIHU-06"],"award-info":[{"award-number":["ANR-10-IAIHU-06"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-11-INBS-0011"],"award-info":[{"award-number":["ANR-11-INBS-0011"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-19-17CE-0022"],"award-info":[{"award-number":["ANR-19-17CE-0022"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-INBS-0010"],"award-info":[{"award-number":["ANR-INBS-0010"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurobiology of Disease"],"published-print":{"date-parts":[[2024,9]]},"DOI":"10.1016\/j.nbd.2024.106564","type":"journal-article","created":{"date-parts":[[2024,6,12]],"date-time":"2024-06-12T17:49:14Z","timestamp":1718214554000},"page":"106564","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"special_numbering":"C","title":["Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice"],"prefix":"10.1016","volume":"199","author":[{"given":"Manon","family":"Fortier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaux","family":"Cauhap\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzie","family":"Buono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Becker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexia","family":"Menuet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Branchu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Ricca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Mero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karim","family":"Dorgham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid-Hamid","family":"El Hachimi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kostantin","family":"Dobrenis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Colsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominic","family":"Samaroo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morgan","family":"Devaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Stevanin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo M.","family":"Santorelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Colombo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belinda","family":"Cowling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Darios","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nbd.2024.106564_bb0005","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0021758","article-title":"Iminosugar-based inhibitors of glucosylceramide synthase increase brain glycosphingolipids and survival in a mouse model of Sandhoff disease","volume":"6","author":"Ashe","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.nbd.2024.106564_bb0010","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1089\/hgtb.2011.034","article-title":"Universal real-time PCR for the detection and quantification of adeno-associated virus serotype 2-derived inverted terminal repeat sequences","volume":"23","author":"Aurnhammer","year":"2012","journal-title":"Hum Gene Ther Methods"},{"key":"10.1016\/j.nbd.2024.106564_bb0015","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.expneurol.2017.06.010","article-title":"Axonal dystrophy in the brain of mice with Sanfilippo syndrome","volume":"295","author":"Beard","year":"2017","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.nbd.2024.106564_bb0020","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1093\/hmg\/ddt434","article-title":"A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation","volume":"23","author":"Boccuto","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2024.106564_bb0025","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.nbd.2017.06.003","article-title":"N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV","volume":"105","author":"Boudewyn","year":"2017","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.nbd.2024.106564_bb0030","doi-asserted-by":"crossref","first-page":"3813","DOI":"10.1016\/j.celrep.2018.05.098","article-title":"Inhibition of lysosome membrane recycling causes accumulation of gangliosides that contribute to neurodegeneration","volume":"23","author":"Boutry","year":"2018","journal-title":"Cell Rep."},{"key":"10.1016\/j.nbd.2024.106564_bb0035","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.nbd.2017.02.007","article-title":"Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration","volume":"102","author":"Branchu","year":"2017","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.nbd.2024.106564_bb0040","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1146\/annurev-biochem-013118-111518","article-title":"Lysosomal glycosphingolipid storage diseases","volume":"88","author":"Breiden","year":"2019","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.nbd.2024.106564_bb0045","doi-asserted-by":"crossref","first-page":"2566","DOI":"10.3390\/ijms21072566","article-title":"Mechanism of secondary ganglioside and lipid accumulation in lysosomal disease","volume":"21","author":"Breiden","year":"2020","journal-title":"IJMS"},{"key":"10.1016\/j.nbd.2024.106564_bb0050","doi-asserted-by":"crossref","first-page":"1172","DOI":"10.1038\/nn.4593","article-title":"Engineered AAVs for efficient noninvasive gene delivery to the central and peripheral nervous systems","volume":"20","author":"Chan","year":"2017","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.nbd.2024.106564_bb0055","doi-asserted-by":"crossref","DOI":"10.1016\/j.nbd.2021.105311","article-title":"Plasma neurofilament light chain predicts cerebellar atrophy and clinical progression in spinocerebellar ataxia","volume":"153","author":"Coarelli","year":"2021","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.nbd.2024.106564_bb0060","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1038\/nrn1788","article-title":"Axon degeneration mechanisms: commonality amid diversity","volume":"6","author":"Coleman","year":"2005","journal-title":"Nat. Rev. Neurosci."},{"key":"10.1016\/j.nbd.2024.106564_bb0065","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.conb.2021.07.005","article-title":"Genetics in hereditary spastic paraplegias: essential but not enough","volume":"72","author":"Darios","year":"2022","journal-title":"Curr. Opin. Neurobiol."},{"key":"10.1016\/j.nbd.2024.106564_bb0070","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1146\/annurev.neuro.31.061307.090711","article-title":"Role of axonal transport in neurodegenerative diseases","volume":"31","author":"De Vos","year":"2008","journal-title":"Annu. Rev. Neurosci."},{"key":"10.1016\/j.nbd.2024.106564_bb0075","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2022.11.002","article-title":"Venglustat, an orally administered glucosylceramide synthase inhibitor: assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study","volume":"138","author":"Deegan","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.nbd.2024.106564_bb0080","article-title":"Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions","volume":"aww061","author":"Denora","year":"2016","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2024.106564_bb0085","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1002\/stem.1569","article-title":"Loss of Spastin function results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegia: modeling axonal defects of HSP in human neurons","volume":"32","author":"Denton","year":"2014","journal-title":"Stem Cells"},{"key":"10.1016\/j.nbd.2024.106564_bb0090","doi-asserted-by":"crossref","first-page":"2297","DOI":"10.1073\/pnas.89.6.2297","article-title":"Neuronal lysosomal enzyme replacement using fragment C of tetanus toxin","volume":"89","author":"Dobrenis","year":"1992","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.nbd.2024.106564_bb0095","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1136\/jmedgenet-2013-102012","article-title":"KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction","volume":"51","author":"Dor","year":"2014","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.nbd.2024.106564_bb0100","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1101\/gr.117143.110","article-title":"Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis","volume":"21","author":"Erlich","year":"2011","journal-title":"Genome Res."},{"key":"10.1016\/j.nbd.2024.106564_bb0105","article-title":"Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knock-out mice","volume":"dmm.008946","author":"Fassier","year":"2012","journal-title":"Dis. Model. Mech."},{"key":"10.1016\/j.nbd.2024.106564_bb0110","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1172\/JCI200420138","article-title":"Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport","volume":"113","author":"Ferreirinha","year":"2004","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.nbd.2024.106564_bb0115","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1186\/s13059-016-1012-2","article-title":"Evaluation of off-target and on-target scoring algorithms and integration into the guide RNA selection tool CRISPOR","volume":"17","author":"Haeussler","year":"2016","journal-title":"Genome Biol."},{"key":"10.1016\/j.nbd.2024.106564_bb0120","doi-asserted-by":"crossref","first-page":"2527","DOI":"10.1093\/hmg\/ddt644","article-title":"Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons","volume":"23","author":"Havlicek","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2024.106564_bb0125","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1002\/ana.21310","article-title":"Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia","volume":"62","author":"Hehr","year":"2007","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.nbd.2024.106564_bb0130","doi-asserted-by":"crossref","DOI":"10.1016\/j.expneurol.2022.114119","article-title":"CNS-associated T-lymphocytes in a mouse model of hereditary spastic paraplegia type 11 (SPG11) are therapeutic targets for established immunomodulators","volume":"355","author":"H\u00f6rner","year":"2022","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.nbd.2024.106564_bb0135","doi-asserted-by":"crossref","first-page":"6388","DOI":"10.1073\/pnas.96.11.6388","article-title":"Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N -butyldeoxynojirimycin","volume":"96","author":"Jeyakumar","year":"1999","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.nbd.2024.106564_bb0140","doi-asserted-by":"crossref","first-page":"12353","DOI":"10.1038\/s41598-019-48787-w","article-title":"Single-cell quantification of mRNA expression in the human brain","volume":"9","author":"Jolly","year":"2019","journal-title":"Sci. Rep."},{"key":"10.1016\/j.nbd.2024.106564_bb0145","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1038\/s41582-018-0058-z","article-title":"Neurofilaments as biomarkers in neurological disorders","volume":"14","author":"Khalil","year":"2018","journal-title":"Nat. Rev. Neurol."},{"key":"10.1016\/j.nbd.2024.106564_bb0150","doi-asserted-by":"crossref","first-page":"e1007","DOI":"10.1212\/WNL.0000000000007032","article-title":"Blood neurofilament light chain as a biomarker of MS disease activity and treatment response","volume":"92","author":"Kuhle","year":"2019","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2024.106564_bb0155","doi-asserted-by":"crossref","first-page":"2018","DOI":"10.1016\/j.ymthe.2019.07.017","article-title":"AAV-PHP.B administration results in a differential pattern of CNS biodistribution in non-human Primates compared with mice","volume":"27","author":"Liguore","year":"2019","journal-title":"Mol. Ther."},{"key":"10.1016\/j.nbd.2024.106564_bb0160","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1038\/mt.2016.53","article-title":"CNS-accessible inhibitor of glucosylceramide synthase for substrate reduction therapy of Neuronopathic Gaucher disease","volume":"24","author":"Marshall","year":"2016","journal-title":"Mol. Ther."},{"key":"10.1016\/j.nbd.2024.106564_bb0165","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1016\/j.ymthe.2019.05.018","article-title":"Substrate reduction therapy for Sandhoff disease through inhibition of glucosylceramide synthase activity","volume":"27","author":"Marshall","year":"2019","journal-title":"Mol. Ther."},{"key":"10.1016\/j.nbd.2024.106564_bb0170","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/s13023-023-02666-w","article-title":"Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients","volume":"18","author":"Mou","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.nbd.2024.106564_bb0175","first-page":"4116","article-title":"A murine monoclonal antibody detecting N-acetyl- and N-glycolyl-GM2: characterization of cell surface reactivity","volume":"46","author":"Natoli","year":"1986","journal-title":"Cancer Res."},{"key":"10.1016\/j.nbd.2024.106564_bb0180","doi-asserted-by":"crossref","first-page":"3171","DOI":"10.4049\/jimmunol.139.9.3171","article-title":"Density-dependent recognition of cell surface GM3 by a certain anti-melanoma antibody, and GM3 lactone as a possible immunogen: requirements for tumor-associated antigen and immunogen","volume":"139","author":"Nores","year":"1987","journal-title":"J. Immunol."},{"key":"10.1016\/j.nbd.2024.106564_bb0185","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1016\/S1474-4422(19)30405-3","article-title":"Serum neurofilament light chain as a preclinical marker of neurodegeneration","volume":"18","author":"Parnetti","year":"2019","journal-title":"The Lancet Neurol"},{"key":"10.1016\/j.nbd.2024.106564_bb0190","doi-asserted-by":"crossref","first-page":"15922","DOI":"10.1096\/fj.202001669R","article-title":"Glucosylceramide production maintains colon integrity in response to Bacteroides fragilis toxin-induced colon epithelial cell signaling","volume":"34","author":"Patterson","year":"2020","journal-title":"FASEB J."},{"key":"10.1016\/j.nbd.2024.106564_bb0195","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1002\/cpdd.865","article-title":"Pharmacokinetics, pharmacodynamics, safety, and tolerability of Oral Venglustat in healthy volunteers","volume":"10","author":"Peterschmitt","year":"2021","journal-title":"Clinical Pharmacol. Drug Develop."},{"key":"10.1016\/j.nbd.2024.106564_bb0200","doi-asserted-by":"crossref","first-page":"557","DOI":"10.3233\/JPD-212714","article-title":"Safety, pharmacokinetics, and pharmacodynamics of Oral Venglustat in patients with Parkinson\u2019s disease and a GBA mutation: results from part 1 of the randomized, double-blinded, placebo-controlled MOVES-PD trial","volume":"12","author":"Peterschmitt","year":"2022","journal-title":"J. Parkinsons Dis."},{"key":"10.1016\/j.nbd.2024.106564_bb0205","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.3002337","article-title":"Spatacsin regulates directionality of lysosome trafficking by promoting the degradation of its partner AP5Z1","volume":"21","author":"Pierga","year":"2023","journal-title":"PLoS Biol."},{"key":"10.1016\/j.nbd.2024.106564_bb0210","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1126\/science.276.5311.428","article-title":"Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin","volume":"276","author":"Platt","year":"1997","journal-title":"Science"},{"key":"10.1016\/j.nbd.2024.106564_bb0215","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1086\/344210","article-title":"A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)","volume":"71","author":"Reid","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.nbd.2024.106564_bb0220","doi-asserted-by":"crossref","first-page":"1452","DOI":"10.1016\/j.devcel.2021.03.032","article-title":"Lipid-mediated motor-adaptor sequestration impairs axonal lysosome delivery leading to autophagic stress and dystrophy in Niemann-pick type C","volume":"56","author":"Roney","year":"2021","journal-title":"Dev. Cell"},{"key":"10.1016\/j.nbd.2024.106564_bb0225","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. Neurosci."},{"key":"10.1016\/j.nbd.2024.106564_bb0230","doi-asserted-by":"crossref","first-page":"3835","DOI":"10.1002\/1873-3468.13114","article-title":"Emerging concepts of ganglioside metabolism","volume":"592","author":"Sandhoff","year":"2018","journal-title":"FEBS Lett."},{"key":"10.1016\/j.nbd.2024.106564_bb0235","series-title":"Double-Edged Effects of Venglustat on Behavior and Pathology in Mice Overexpressing \u03b1-Synuclein. Movement Disorders Mds.29398","author":"Schidlitzki","year":"2023"},{"key":"10.1016\/j.nbd.2024.106564_bb0240","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1093\/brain\/awac379","article-title":"Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial","volume":"146","author":"Schiffmann","year":"2023","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2024.106564_bb0245","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1167\/iovs.61.13.30","article-title":"Retinal spheroids and axon pathology identified in amyotrophic lateral sclerosis","volume":"61","author":"Sharma","year":"2020","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.nbd.2024.106564_bb0250","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1038\/ng1460","article-title":"Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase","volume":"36","author":"Simpson","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.nbd.2024.106564_bb0255","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1038\/ng1980","article-title":"Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum","volume":"39","author":"Stevanin","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.nbd.2024.106564_bb0260","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1093\/brain\/awm293","article-title":"Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration","volume":"131","author":"Stevanin","year":"2008","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2024.106564_bb0265","doi-asserted-by":"crossref","first-page":"3544","DOI":"10.1093\/hmg\/ddl431","article-title":"A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition","volume":"15","author":"Tarrade","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2024.106564_bb0270","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1005454","article-title":"In vivo evidence for lysosome depletion and impaired Autophagic clearance in hereditary spastic paraplegia type SPG11","volume":"11","author":"Varga","year":"2015","journal-title":"PLoS Genet."},{"key":"10.1016\/j.nbd.2024.106564_bb0275","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.nbd.2013.09.005","article-title":"Efficient derivation of cortical glutamatergic neurons from human pluripotent stem cells: a model system to study neurotoxicity in Alzheimer's disease","volume":"62","author":"Vazin","year":"2014","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.nbd.2024.106564_bb0280","doi-asserted-by":"crossref","first-page":"20945","DOI":"10.1038\/s41598-021-00404-5","article-title":"Preclinical pharmacology of glucosylceramide synthase inhibitor venglustat in a GBA-related synucleinopathy model","volume":"11","author":"Viel","year":"2021","journal-title":"Sci. Rep."},{"key":"10.1016\/j.nbd.2024.106564_bb0285","article-title":"Do multiple experimenters improve the reproducibility of animal studies?","volume":"20","author":"von Kortzfleisch","year":"2022","journal-title":"PLoS Biol."},{"key":"10.1016\/j.nbd.2024.106564_bb0290","article-title":"Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients","volume":"30","author":"Welford","year":"2022","journal-title":"Mol Genet Metab Rep"},{"key":"10.1016\/j.nbd.2024.106564_bb0295","doi-asserted-by":"crossref","DOI":"10.15252\/emmm.201911803","article-title":"Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice","volume":"12","author":"Wilke","year":"2020","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.nbd.2024.106564_bb0300","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1194\/jlr.R003996","article-title":"Multi-system disorders of glycosphingolipid and ganglioside metabolism","volume":"51","author":"Xu","year":"2010","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.nbd.2024.106564_bb0305","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1006\/mthe.2001.0415","article-title":"High and sustained transgene expression in vivo from plasmid vectors containing a hybrid ubiquitin promoter","volume":"4","author":"Yew","year":"2001","journal-title":"Mol. Ther."}],"container-title":["Neurobiology of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996124001645?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996124001645?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T08:55:43Z","timestamp":1778576143000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0969996124001645"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9]]},"references-count":61,"alternative-id":["S0969996124001645"],"URL":"https:\/\/doi.org\/10.1016\/j.nbd.2024.106564","relation":{},"ISSN":["0969-9961"],"issn-type":[{"value":"0969-9961","type":"print"}],"subject":[],"published":{"date-parts":[[2024,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice","name":"articletitle","label":"Article Title"},{"value":"Neurobiology of Disease","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nbd.2024.106564","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"106564"}}