{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:26:07Z","timestamp":1790630767984,"version":"4.1.0"},"reference-count":133,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,12,8]],"date-time":"2020-12-08T00:00:00Z","timestamp":1607385600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Cellular Signalling"],"published-print":{"date-parts":[[2021,2]]},"DOI":"10.1016\/j.cellsig.2020.109879","type":"journal-article","created":{"date-parts":[[2020,12,6]],"date-time":"2020-12-06T09:43:06Z","timestamp":1607247786000},"page":"109879","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":36,"special_numbering":"C","title":["Genetic defects in the sphingolipid degradation pathway and their effects on microglia in neurodegenerative disease"],"prefix":"10.1016","volume":"78","author":[{"given":"Maria L.","family":"Allende","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongling","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari","family":"Kono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lila E.","family":"Hoachlander-Hobby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vienna L.","family":"Huso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard L.","family":"Proia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.cellsig.2020.109879_bb0005","doi-asserted-by":"crossref","first-page":"6387","DOI":"10.1021\/cr2002917","article-title":"Sphingolipid and glycosphingolipid metabolic pathways in the era of sphingolipidomics","volume":"111","author":"Merrill","year":"2011","journal-title":"Chem. Rev."},{"issue":"2","key":"10.1016\/j.cellsig.2020.109879_bb0010","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1038\/nrm2329","article-title":"Principles of bioactive lipid signalling: lessons from sphingolipids","volume":"9","author":"Hannun","year":"2008","journal-title":"Nat. Rev. Mol. Cell Biol."},{"issue":"23","key":"10.1016\/j.cellsig.2020.109879_bb0015","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.cellsig.2020.109879_bb0020","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/0076-6879(82)83012-7","article-title":"Gangliosides-structure, isolation, and analysis","volume":"83","author":"Ledeen","year":"1982","journal-title":"Methods Enzymol."},{"issue":"5","key":"10.1016\/j.cellsig.2020.109879_bb0025","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1023\/B:GLYC.0000033627.02765.cc","article-title":"Ganglioside\/glycosphingolipid turnover: new concepts","volume":"20","author":"Tettamanti","year":"2004","journal-title":"Glycoconj. J."},{"key":"10.1016\/j.cellsig.2020.109879_bb0030","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.jbior.2018.11.002","article-title":"Intra- and intercellular trafficking in sphingolipid metabolism in myelination","volume":"71","author":"Wattenberg","year":"2019","journal-title":"Adv. Biol. Regul."},{"issue":"1","key":"10.1016\/j.cellsig.2020.109879_bb0035","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/s41572-018-0025-4","article-title":"Lysosomal storage diseases","volume":"4","author":"Platt","year":"2018","journal-title":"Nat. Rev. Dis. Primers"},{"issue":"4","key":"10.1016\/j.cellsig.2020.109879_bb0040","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"},{"issue":"1","key":"10.1016\/j.cellsig.2020.109879_bb0045","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0006-8993(76)90245-6","article-title":"Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease","volume":"116","author":"Purpura","year":"1976","journal-title":"Brain Res."},{"issue":"7503","key":"10.1016\/j.cellsig.2020.109879_bb0050","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature13476","article-title":"Sphingolipid lysosomal storage disorders","volume":"510","author":"Platt","year":"2014","journal-title":"Nature"},{"issue":"5","key":"10.1016\/j.cellsig.2020.109879_bb0055","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1083\/jcb.201208152","article-title":"The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction","volume":"199","author":"Platt","year":"2012","journal-title":"J. Cell Biol."},{"issue":"6","key":"10.1016\/j.cellsig.2020.109879_bb0060","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a004804","article-title":"Lysosomal lipid storage diseases","volume":"3","author":"Schulze","year":"2011","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/j.cellsig.2020.109879_bb0065","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1146\/annurev-cellbio-100616-060509","article-title":"Microglia and the brain: complementary partners in development and disease","volume":"34","author":"Hammond","year":"2018","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"10.1016\/j.cellsig.2020.109879_bb0070","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1146\/annurev-immunol-051116-052358","article-title":"Microglia function in the central nervous system during health and neurodegeneration","volume":"35","author":"Colonna","year":"2017","journal-title":"Annu. Rev. Immunol."},{"issue":"28","key":"10.1016\/j.cellsig.2020.109879_bb0075","doi-asserted-by":"crossref","first-page":"16096","DOI":"10.1073\/pnas.2010281117","article-title":"Core concept: how synaptic pruning shapes neural wiring during development and, possibly, in disease","volume":"117","author":"Sakai","year":"2020","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"8","key":"10.1016\/j.cellsig.2020.109879_bb0080","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1038\/nn.4325","article-title":"Age-related myelin degradation burdens the clearance function of microglia during aging","volume":"19","author":"Safaiyan","year":"2016","journal-title":"Nat. Neurosci."},{"issue":"4","key":"10.1016\/j.cellsig.2020.109879_bb0085","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1084\/jem.20041611","article-title":"Clearance of apoptotic neurons without inflammation by microglial triggering receptor expressed on myeloid cells-2","volume":"201","author":"Takahashi","year":"2005","journal-title":"J. Exp. Med."},{"issue":"5","key":"10.1016\/j.cellsig.2020.109879_bb0090","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/j.neuron.2019.12.007","article-title":"TREM2 regulates microglial cholesterol metabolism upon chronic phagocytic challenge","volume":"105","author":"Nugent","year":"2020","journal-title":"Neuron"},{"issue":"5","key":"10.1016\/j.cellsig.2020.109879_bb0095","doi-asserted-by":"crossref","first-page":"2161","DOI":"10.1172\/JCI77983","article-title":"TREM2 sustains microglial expansion during aging and response to demyelination","volume":"125","author":"Poliani","year":"2015","journal-title":"J. Clin. Invest."},{"issue":"3","key":"10.1016\/j.cellsig.2020.109879_bb0100","doi-asserted-by":"crossref","first-page":"725","DOI":"10.3181\/00379727-126-32554","article-title":"Ceramide and ganglioside accumulation in Farber\u2019s lipogranulomatosis","volume":"126","author":"Prensky","year":"1967","journal-title":"Proc. Soc. Exp. Biol. Med."},{"issue":"6","key":"10.1016\/j.cellsig.2020.109879_bb0105","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1016\/0002-9343(69)90202-2","article-title":"Farber\u2019s lipogranulomatosis. Report of a case and demonstration of an excess of free ceramide and ganglioside","volume":"47","author":"Moser","year":"1969","journal-title":"Am. J. Med."},{"key":"10.1016\/j.cellsig.2020.109879_bb0110","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/1546-0096-5-15","article-title":"Farber disease: clinical presentation, pathogenesis and a new approach to treatment","volume":"5","author":"Ehlert","year":"2007","journal-title":"Pediatr. Rheumatol. Online J."},{"issue":"6","key":"10.1016\/j.cellsig.2020.109879_bb0115","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1002\/emmm.201202301","article-title":"Systemic ceramide accumulation leads to severe and varied pathological consequences","volume":"5","author":"Alayoubi","year":"2013","journal-title":"EMBO Mol. Med."},{"issue":"4","key":"10.1016\/j.cellsig.2020.109879_bb0120","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1016\/j.ajpath.2016.12.005","article-title":"Acid ceramidase deficiency in mice results in a broad range of central nervous system abnormalities","volume":"187","author":"Sikora","year":"2017","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.cellsig.2020.109879_bb0125","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"3635","article-title":"Gaucher disease","author":"Beutler","year":"2001"},{"key":"10.1016\/j.cellsig.2020.109879_bb0130","series-title":"Sphingolipids in Disease. Handbook of Experimental Pharmacology","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1007\/978-3-7091-1511-4_20","article-title":"Neuronal forms of Gaucher disease","author":"Vitner","year":"2013"},{"issue":"1\u20132","key":"10.1016\/j.cellsig.2020.109879_bb0135","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.ymgme.2016.11.390","article-title":"The metabolism of glucocerebrosides - from 1965 to the present","volume":"120","author":"Futerman","year":"2017","journal-title":"Mol. Genet. Metab."},{"issue":"34","key":"10.1016\/j.cellsig.2020.109879_bb0140","doi-asserted-by":"crossref","first-page":"31918","DOI":"10.1074\/jbc.M302752200","article-title":"Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradation","volume":"278","author":"Sun","year":"2003","journal-title":"J. Biol. Chem."},{"issue":"6","key":"10.1016\/j.cellsig.2020.109879_bb0145","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1002\/1873-3468.12104","article-title":"Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases","volume":"590","author":"Ferraz","year":"2016","journal-title":"FEBS Lett."},{"issue":"3","key":"10.1016\/j.cellsig.2020.109879_bb0150","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1016\/j.ymgme.2004.04.011","article-title":"Neuropathology provides clues to the pathophysiology of Gaucher disease","volume":"82","author":"Wong","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.cellsig.2020.109879_bb0155","doi-asserted-by":"crossref","first-page":"417","DOI":"10.3389\/fnins.2015.00417","article-title":"Neuroinflammatory paradigms in lysosomal storage diseases","volume":"9","author":"Bosch","year":"2015","journal-title":"Front. Neurosci."},{"issue":"Pt 6","key":"10.1016\/j.cellsig.2020.109879_bb0160","doi-asserted-by":"crossref","first-page":"1724","DOI":"10.1093\/brain\/aws095","article-title":"Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher\u2019s disease","volume":"135","author":"Vitner","year":"2012","journal-title":"Brain"},{"issue":"7","key":"10.1016\/j.cellsig.2020.109879_bb0165","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1093\/hmg\/ddr019","article-title":"Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease","volume":"20","author":"Farfel-Becker","year":"2011","journal-title":"Hum. Mol. Genet."},{"issue":"4","key":"10.1016\/j.cellsig.2020.109879_bb0170","doi-asserted-by":"crossref","first-page":"733","DOI":"10.3346\/jkms.2006.21.4.733","article-title":"Upregulation of proinflammatory cytokines in the fetal brain of the Gaucher mouse","volume":"21","author":"Hong","year":"2006","journal-title":"J. Korean Med. Sci."},{"issue":"4","key":"10.1016\/j.cellsig.2020.109879_bb0175","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/j.ymgme.2004.06.020","article-title":"Global gene expression in a type 2 Gaucher disease brain","volume":"83","author":"Myerowitz","year":"2004","journal-title":"Mol. Genet. Metab."},{"issue":"5","key":"10.1016\/j.cellsig.2020.109879_bb0180","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1111\/jnc.14483","article-title":"Absence of infiltrating peripheral myeloid cells in the brains of mouse models of lysosomal storage disorders","volume":"148","author":"Cho","year":"2019","journal-title":"J. Neurochem."},{"issue":"44","key":"10.1016\/j.cellsig.2020.109879_bb0185","doi-asserted-by":"crossref","first-page":"17483","DOI":"10.1073\/pnas.0708086104","article-title":"Murine models of acute neuronopathic Gaucher disease","volume":"104","author":"Enquist","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"12","key":"10.1016\/j.cellsig.2020.109879_bb0190","doi-asserted-by":"crossref","first-page":"1933","DOI":"10.1093\/hmg\/ddz317","article-title":"Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes","volume":"29","author":"Massaro","year":"2020","journal-title":"Hum. Mol. Genet."},{"issue":"23","key":"10.1016\/j.cellsig.2020.109879_bb0195","doi-asserted-by":"crossref","first-page":"6640","DOI":"10.1093\/hmg\/ddv369","article-title":"Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death","volume":"24","author":"Keatinge","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.cellsig.2020.109879_bb0200","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-018-0872-9","article-title":"A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life","volume":"13","author":"Bascou","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"issue":"1","key":"10.1016\/j.cellsig.2020.109879_bb0205","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/s41467-017-02361-y","article-title":"The mechanism of glycosphingolipid degradation revealed by a GALC-SapA complex structure","volume":"9","author":"Hill","year":"2018","journal-title":"Nat. Commun."},{"issue":"3","key":"10.1016\/j.cellsig.2020.109879_bb0210","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1023\/A:1022436928925","article-title":"Twenty five years of the \u201cpsychosine hypothesis\u201d: a personal perspective of its history and present status","volume":"23","author":"Suzuki","year":"1998","journal-title":"Neurochem. Res."},{"issue":"1","key":"10.1016\/j.cellsig.2020.109879_bb0215","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/mgme.2000.2990","article-title":"Krabbe disease: genetic aspects and progress toward therapy","volume":"70","author":"Wenger","year":"2000","journal-title":"Mol. Genet. Metab."},{"issue":"1","key":"10.1016\/j.cellsig.2020.109879_bb0220","doi-asserted-by":"crossref","first-page":"98","DOI":"10.2353\/ajpath.2008.070404","article-title":"Clinical and immunopathologic alterations in rhesus macaques affected with globoid cell leukodystrophy","volume":"172","author":"Borda","year":"2008","journal-title":"Am. J. Pathol."},{"issue":"6","key":"10.1016\/j.cellsig.2020.109879_bb0225","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0064647","article-title":"Central nervous system pathology progresses independently of KC and CXCR2 in globoid-cell leukodystrophy","volume":"8","author":"Reddy","year":"2014","journal-title":"PLoS One"},{"issue":"5","key":"10.1016\/j.cellsig.2020.109879_bb0230","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1002\/glia.22471","article-title":"MMP-3 mediates psychosine-induced globoid cell formation: implications for leukodystrophy pathology","volume":"61","author":"Ijichi","year":"2013","journal-title":"Glia"},{"issue":"10","key":"10.1016\/j.cellsig.2020.109879_bb0235","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1097\/NEN.0000000000000117","article-title":"Aberrant production of tenascin-C in globoid cell leukodystrophy alters psychosine-induced microglial functions","volume":"73","author":"Claycomb","year":"2014","journal-title":"J. Neuropathol. Exp. Neurol."},{"issue":"16","key":"10.1016\/j.cellsig.2020.109879_bb0240","doi-asserted-by":"crossref","first-page":"4383","DOI":"10.1523\/JNEUROSCI.4531-05.2006","article-title":"Prostaglandin D2-mediated microglia\/astrocyte interaction enhances astrogliosis and demyelination in twitcher","volume":"26","author":"Mohri","year":"2006","journal-title":"J. Neurosci."},{"issue":"10","key":"10.1016\/j.cellsig.2020.109879_bb0245","doi-asserted-by":"crossref","first-page":"3610","DOI":"10.1523\/JNEUROSCI.6344-10.2011","article-title":"Macrophages counteract demyelination in a mouse model of globoid cell leukodystrophy","volume":"31","author":"Kondo","year":"2011","journal-title":"J. Neurosci."},{"issue":"6","key":"10.1016\/j.cellsig.2020.109879_bb0250","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1016\/0387-7604(94)90013-2","article-title":"Pathological and biochemical studies of fetal Krabbe disease","volume":"16","author":"Ida","year":"1994","journal-title":"Brain Dev."},{"issue":"2","key":"10.1016\/j.cellsig.2020.109879_bb0255","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.ajpath.2013.10.011","article-title":"Innate immune activation in the pathogenesis of a murine model of globoid cell leukodystrophy","volume":"184","author":"Snook","year":"2014","journal-title":"Am. J. Pathol."},{"issue":"17","key":"10.1016\/j.cellsig.2020.109879_bb0260","doi-asserted-by":"crossref","first-page":"3397","DOI":"10.1093\/hmg\/ddt190","article-title":"Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease","volume":"22","author":"Potter","year":"2013","journal-title":"Hum. Mol. Genet."},{"issue":"15","key":"10.1016\/j.cellsig.2020.109879_bb0265","doi-asserted-by":"crossref","first-page":"2825","DOI":"10.1093\/hmg\/ddx153","article-title":"Heterozygote galactocerebrosidase (GALC) mutants have reduced remyelination and impaired myelin debris clearance following demyelinating injury","volume":"26","author":"Scott-Hewitt","year":"2017","journal-title":"Hum. Mol. Genet."},{"issue":"1","key":"10.1016\/j.cellsig.2020.109879_bb0270","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.neuron.2020.03.031","article-title":"Macrophages expressing GALC improve peripheral Krabbe disease by a mechanism independent of cross-correction","volume":"107","author":"Weinstock","year":"2020","journal-title":"Neuron"},{"issue":"3831","key":"10.1016\/j.cellsig.2020.109879_bb0275","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"},{"issue":"46","key":"10.1016\/j.cellsig.2020.109879_bb0280","doi-asserted-by":"crossref","first-page":"35814","DOI":"10.1074\/jbc.M006568200","article-title":"Degradation of membrane-bound ganglioside GM1. Stimulation by bis(monoacylglycero)phosphate and the activator proteins SAP-B and GM2-AP","volume":"275","author":"Wilkening","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.cellsig.2020.109879_bb0285","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"3775","article-title":"Beta-galactosidase deficiency (beta-galactosidosis): GM1 gangliosidosis and Morquio B disease","author":"Suzuki","year":"2001"},{"issue":"2","key":"10.1016\/j.cellsig.2020.109879_bb0290","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 beta-galactosidase","volume":"6","author":"Hahn","year":"1997","journal-title":"Hum. Mol. Genet."},{"issue":"Pt 4","key":"10.1016\/j.cellsig.2020.109879_bb0295","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"},{"issue":"7","key":"10.1016\/j.cellsig.2020.109879_bb0300","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.cellsig.2020.109879_bb0305","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1111\/j.1471-4159.1963.tb11905.x","article-title":"A controlled study of enzymic activities in three human disorders of glycolipid metabolism","volume":"10","author":"Austin","year":"1963","journal-title":"J. Neurochem."},{"issue":"5","key":"10.1016\/j.cellsig.2020.109879_bb0310","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1515\/bchm2.1975.356.1.605","article-title":"The activator of cerebroside sulphatase. Purification from human liver and identification as a protein","volume":"356","author":"Fischer","year":"1975","journal-title":"Hoppe Seylers Z. Physiol. Chem."},{"issue":"2\u20133","key":"10.1016\/j.cellsig.2020.109879_bb0315","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/s12035-008-8022-3","article-title":"The role and metabolism of sulfatide in the nervous system","volume":"37","author":"Eckhardt","year":"2008","journal-title":"Mol. Neurobiol."},{"issue":"2","key":"10.1016\/j.cellsig.2020.109879_bb0320","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.beem.2014.10.001","article-title":"Metachromatic leukodystrophy: disease spectrum and approaches for treatment","volume":"29","author":"van Rappard","year":"2015","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"issue":"1","key":"10.1016\/j.cellsig.2020.109879_bb0325","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1186\/s13023-019-1220-4","article-title":"Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective","volume":"14","author":"Beerepoot","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"issue":"4","key":"10.1016\/j.cellsig.2020.109879_bb0330","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.pediatrneurol.2007.06.011","article-title":"Immune response in leukodystrophies","volume":"37","author":"Eichler","year":"2007","journal-title":"Pediatr. Neurol."},{"issue":"4","key":"10.1016\/j.cellsig.2020.109879_bb0335","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/S0387-7604(81)80065-4","article-title":"Clinicopathological differences between juvenile and late infantile metachromatic leukodystrophy","volume":"3","author":"Takashima","year":"1981","journal-title":"Brain Dev."},{"issue":"6","key":"10.1016\/j.cellsig.2020.109879_bb0340","doi-asserted-by":"crossref","first-page":"1196","DOI":"10.1002\/glia.23598","article-title":"Microglia damage precedes major myelin breakdown in X-linked adrenoleukodystrophy and metachromatic leukodystrophy","volume":"67","author":"Bergner","year":"2019","journal-title":"Glia"},{"issue":"8","key":"10.1016\/j.cellsig.2020.109879_bb0345","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. Clin. Invest."},{"issue":"7","key":"10.1016\/j.cellsig.2020.109879_bb0350","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1038\/mt.2015.69","article-title":"Anti-inflammatory therapy with simvastatin improves neuroinflammation and CNS function in a mouse model of metachromatic leukodystrophy","volume":"23","author":"Stein","year":"2015","journal-title":"Mol. Ther."},{"key":"10.1016\/j.cellsig.2020.109879_bb0355","doi-asserted-by":"crossref","first-page":"24579","DOI":"10.1038\/srep24579","article-title":"Cerebral spinal fluid levels of cytokines are elevated in patients with metachromatic leukodystrophy","volume":"6","author":"Thibert","year":"2016","journal-title":"Sci. Rep."},{"issue":"11","key":"10.1016\/j.cellsig.2020.109879_bb0360","doi-asserted-by":"crossref","first-page":"8077","DOI":"10.4049\/jimmunol.181.11.8077","article-title":"Sulfatide, a major lipid component of myelin sheath, activates inflammatory responses as an endogenous stimulator in brain-resident immune cells","volume":"181","author":"Jeon","year":"2008","journal-title":"J. Immunol."},{"issue":"4","key":"10.1016\/j.cellsig.2020.109879_bb0365","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1055\/s-2005-865863","article-title":"Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders","volume":"36","author":"Di Rocco","year":"2005","journal-title":"Neuropediatrics"},{"issue":"1","key":"10.1016\/j.cellsig.2020.109879_bb0370","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1111\/j.1471-4159.2009.05947.x","article-title":"Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann-Pick disease type A","volume":"109","author":"Buccinna","year":"2009","journal-title":"J. Neurochem."},{"issue":"5","key":"10.1016\/j.cellsig.2020.109879_bb0375","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1038\/mp.2016.148","article-title":"Sphingomyelin-induced inhibition of the plasma membrane calcium ATPase causes neurodegeneration in type A Niemann-Pick disease","volume":"22","author":"Perez-Canamas","year":"2017","journal-title":"Mol. Psychiatry"},{"issue":"1\u20132","key":"10.1016\/j.cellsig.2020.109879_bb0380","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.ymgme.2016.12.008","article-title":"Types A and B Niemann-Pick disease","volume":"120","author":"Schuchman","year":"2017","journal-title":"Mol. Genet. Metab."},{"issue":"6\u20137","key":"10.1016\/j.cellsig.2020.109879_bb0385","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1515\/hsz-2015-0109","article-title":"Secretory sphingomyelinase in health and disease","volume":"396","author":"Kornhuber","year":"2015","journal-title":"Biol. Chem."},{"key":"10.1016\/j.cellsig.2020.109879_bb0390","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1007\/164_2018_179","article-title":"Exploring the therapeutic landscape of sphingomyelinases","volume":"259","author":"Shanbhogue","year":"2020","journal-title":"Handb. Exp. Pharmacol."},{"issue":"2","key":"10.1016\/j.cellsig.2020.109879_bb0395","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1097\/00005072-199702000-00008","article-title":"Light and electron microscopic analysis of the central and peripheral nervous systems of acid sphingomyelinase-deficient mice resulting from gene targeting","volume":"56","author":"Kuemmel","year":"1997","journal-title":"J. Neuropathol. Exp. Neurol."},{"issue":"3","key":"10.1016\/j.cellsig.2020.109879_bb0400","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1038\/ng0795-288","article-title":"Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease","volume":"10","author":"Horinouchi","year":"1995","journal-title":"Nat. Genet."},{"issue":"7","key":"10.1016\/j.cellsig.2020.109879_bb0405","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1016\/S0092-8674(05)80010-8","article-title":"Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease)","volume":"81","author":"Otterbach","year":"1995","journal-title":"Cell"},{"issue":"2","key":"10.1016\/j.cellsig.2020.109879_bb0410","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.expneurol.2008.07.026","article-title":"Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure-function studies associated with cerebellar Purkinje cell degeneration","volume":"214","author":"Macauley","year":"2008","journal-title":"Exp. Neurol."},{"issue":"10","key":"10.1016\/j.cellsig.2020.109879_bb0415","doi-asserted-by":"crossref","first-page":"1873","DOI":"10.1046\/j.0953-816x.2001.01564.x","article-title":"Patterned cerebellar Purkinje cell death in a transgenic mouse model of Niemann Pick type A\/B disease","volume":"13","author":"Sarna","year":"2001","journal-title":"Eur. J. Neurosci."},{"issue":"2","key":"10.1016\/j.cellsig.2020.109879_bb0420","doi-asserted-by":"crossref","DOI":"10.15252\/embj.201899553","article-title":"Lipid-induced lysosomal damage after demyelination corrupts microglia protective function in lysosomal storage disorders","volume":"38","author":"Gabande-Rodriguez","year":"2019","journal-title":"EMBO J."},{"key":"10.1016\/j.cellsig.2020.109879_bb0425","doi-asserted-by":"crossref","first-page":"1717","DOI":"10.1016\/B978-0-444-59565-2.00041-1","article-title":"Niemann-Pick diseases","volume":"113","author":"Vanier","year":"2013","journal-title":"Handb. Clin. Neurol."},{"issue":"5","key":"10.1016\/j.cellsig.2020.109879_bb0430","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1111\/j.1399-0004.1988.tb03460.x","article-title":"Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: a collaborative study on 70 patients","volume":"33","author":"Vanier","year":"1988","journal-title":"Clin. Genet."},{"issue":"36","key":"10.1016\/j.cellsig.2020.109879_bb0435","doi-asserted-by":"crossref","first-page":"10079","DOI":"10.1073\/pnas.1611956113","article-title":"Clues to the mechanism of cholesterol transfer from the structure of NPC1 middle lumenal domain bound to NPC2","volume":"113","author":"Li","year":"2016","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"40","key":"10.1016\/j.cellsig.2020.109879_bb0440","doi-asserted-by":"crossref","first-page":"15223","DOI":"10.1073\/pnas.0808256105","article-title":"NPC1\/NPC2 function as a tag team duo to mobilize cholesterol","volume":"105","author":"Subramanian","year":"2008","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.cellsig.2020.109879_bb0445","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.57089","article-title":"Inter-domain dynamics drive cholesterol transport by NPC1 and NPC1L1 proteins","volume":"9","author":"Saha","year":"2020","journal-title":"Elife"},{"issue":"7","key":"10.1016\/j.cellsig.2020.109879_bb0450","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1016\/j.cell.2009.03.049","article-title":"Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol","volume":"137","author":"Kwon","year":"2009","journal-title":"Cell"},{"key":"10.1016\/j.cellsig.2020.109879_bb0455","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.jbior.2018.08.001","article-title":"Niemann-Pick type C disease: the atypical sphingolipidosis","volume":"70","author":"Newton","year":"2018","journal-title":"Adv. Biol. Regul."},{"issue":"7","key":"10.1016\/j.cellsig.2020.109879_bb0460","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.1073\/pnas.1611096114","article-title":"Trifunctional lipid probes for comprehensive studies of single lipid species in living cells","volume":"114","author":"H\u00f6glinger","year":"2017","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.cellsig.2020.109879_bb0465","doi-asserted-by":"crossref","first-page":"382","DOI":"10.3389\/fnmol.2017.00382","article-title":"Intracellular cholesterol trafficking and impact in neurodegeneration","volume":"10","author":"Arenas","year":"2017","journal-title":"Front. Mol. Neurosci."},{"issue":"11","key":"10.1016\/j.cellsig.2020.109879_bb0470","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1038\/nm.1876","article-title":"Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium","volume":"14","author":"Lloyd-Evans","year":"2008","journal-title":"Nat. Med."},{"key":"10.1016\/j.cellsig.2020.109879_bb0475","first-page":"789511","article-title":"Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia","author":"Colombo","year":"2019","journal-title":"bioRxiv"},{"issue":"12","key":"10.1016\/j.cellsig.2020.109879_bb0480","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1093\/hmg\/ddy112","article-title":"Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention","volume":"27","author":"Cougnoux","year":"2018","journal-title":"Hum. Mol. Genet."},{"issue":"1","key":"10.1016\/j.cellsig.2020.109879_bb0485","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1007\/s10545-013-9610-6","article-title":"Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1","volume":"37","author":"Cologna","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.cellsig.2020.109879_bb0490","series-title":"The Metabolic and Molecular Basis of Inherited Disease","first-page":"3827","article-title":"The GM2 gangliosidoses","author":"Gravel","year":"2001"},{"key":"10.1016\/j.cellsig.2020.109879_bb0495","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."},{"issue":"1","key":"10.1016\/j.cellsig.2020.109879_bb0500","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.jneuroim.2008.06.024","article-title":"Peripheral blood mononuclear cell infiltration and neuroinflammation in the HexB\u2212\/\u2212 mouse model of neurodegeneration","volume":"203","author":"Kyrkanides","year":"2008","journal-title":"J. Neuroimmunol."},{"issue":"19","key":"10.1016\/j.cellsig.2020.109879_bb0505","doi-asserted-by":"crossref","first-page":"3960","DOI":"10.1093\/hmg\/ddt250","article-title":"Deletion of tumor necrosis factor-alpha ameliorates neurodegeneration in Sandhoff disease mice","volume":"22","author":"Abo-Ouf","year":"2013","journal-title":"Hum. Mol. Genet."},{"issue":"20","key":"10.1016\/j.cellsig.2020.109879_bb0510","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. S. A."},{"issue":"11","key":"10.1016\/j.cellsig.2020.109879_bb0515","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1093\/hmg\/11.11.1343","article-title":"Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling","volume":"11","author":"Myerowitz","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.cellsig.2020.109879_bb0520","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1186\/1742-2094-9-186","article-title":"Conditional expression of human beta-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation","volume":"9","author":"Kyrkanides","year":"2012","journal-title":"J. Neuroinflammation"},{"issue":"9","key":"10.1016\/j.cellsig.2020.109879_bb0525","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1002943","article-title":"Characterization of inducible models of Tay-Sachs and related disease","volume":"8","author":"Sargeant","year":"2012","journal-title":"PLoS Genet."},{"issue":"7","key":"10.1016\/j.cellsig.2020.109879_bb0530","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1038\/s41590-020-0707-4","article-title":"Novel Hexb-based tools for studying microglia in the CNS","volume":"21","author":"Masuda","year":"2020","journal-title":"Nat. Immunol."},{"issue":"9","key":"10.1016\/j.cellsig.2020.109879_bb0535","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1002\/glia.23641","article-title":"Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development","volume":"67","author":"Kuil","year":"2019","journal-title":"Glia"},{"issue":"15","key":"10.1016\/j.cellsig.2020.109879_bb0540","doi-asserted-by":"crossref","first-page":"2257","DOI":"10.1093\/hmg\/ddn126","article-title":"Sphingosine kinase 1\/S1P receptor signaling axis controls glial proliferation in mice with Sandhoff disease","volume":"17","author":"Wu","year":"2008","journal-title":"Hum. Mol. Genet."},{"issue":"22","key":"10.1016\/j.cellsig.2020.109879_bb0545","doi-asserted-by":"crossref","first-page":"8425","DOI":"10.1073\/pnas.0400625101","article-title":"Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice","volume":"101","author":"Wu","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"9","key":"10.1016\/j.cellsig.2020.109879_bb0550","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. Clin. Invest."},{"issue":"10","key":"10.1016\/j.cellsig.2020.109879_bb0555","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1038\/s41582-019-0244-7","article-title":"Ageing as a risk factor for neurodegenerative disease","volume":"15","author":"Hou","year":"2019","journal-title":"Nat. Rev. Neurol."},{"issue":"4","key":"10.1016\/j.cellsig.2020.109879_bb0560","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1016\/j.bcp.2014.01.008","article-title":"Microglial dysfunction in brain aging and Alzheimer\u2019s disease","volume":"88","author":"Mosher","year":"2014","journal-title":"Biochem. Pharmacol."},{"issue":"2","key":"10.1016\/j.cellsig.2020.109879_bb0565","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1038\/s41593-019-0566-1","article-title":"Lipid-droplet-accumulating microglia represent a dysfunctional and proinflammatory state in the aging brain","volume":"23","author":"Marschallinger","year":"2020","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.cellsig.2020.109879_bb0570","doi-asserted-by":"crossref","first-page":"15056","DOI":"10.1038\/nrdp.2015.56","article-title":"Alzheimer's disease","volume":"1","author":"Masters","year":"2015","journal-title":"Nat. Rev. Dis. Primers"},{"issue":"6","key":"10.1016\/j.cellsig.2020.109879_bb0575","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1002\/ca.980080612","article-title":"An English translation of Alzheimer\u2019s 1907 paper, \u201cUber eine eigenartige Erkankung der Hirnrinde\u201d","volume":"8","author":"Alzheimer","year":"1995","journal-title":"Clin. Anat."},{"key":"10.1016\/j.cellsig.2020.109879_bb0580","doi-asserted-by":"crossref","first-page":"6176","DOI":"10.1038\/ncomms7176","article-title":"Microglia constitute a barrier that prevents neurotoxic protofibrillar Abeta42 hotspots around plaques","volume":"6","author":"Condello","year":"2015","journal-title":"Nat. Commun."},{"issue":"9","key":"10.1016\/j.cellsig.2020.109879_bb0585","doi-asserted-by":"crossref","first-page":"3240","DOI":"10.1172\/JCI90606","article-title":"Microglia in Alzheimer\u2019s disease","volume":"127","author":"Sarlus","year":"2017","journal-title":"J. Clin. Invest."},{"issue":"2","key":"10.1016\/j.cellsig.2020.109879_bb0590","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1083\/jcb.201709069","article-title":"Microglia in Alzheimer\u2019s disease","volume":"217","author":"Hansen","year":"2018","journal-title":"J. Cell Biol."},{"issue":"2","key":"10.1016\/j.cellsig.2020.109879_bb0595","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1056\/NEJMoa1211103","article-title":"Variant of TREM2 associated with the risk of Alzheimer\u2019s disease","volume":"368","author":"Jonsson","year":"2013","journal-title":"N. Engl. J. Med."},{"issue":"6","key":"10.1016\/j.cellsig.2020.109879_bb0600","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1016\/j.cell.2015.01.049","article-title":"TREM2 lipid sensing sustains the microglial response in an Alzheimer\u2019s disease model","volume":"160","author":"Wang","year":"2015","journal-title":"Cell"},{"issue":"3","key":"10.1016\/j.cellsig.2020.109879_bb0605","doi-asserted-by":"crossref","DOI":"10.15252\/emmm.201910606","article-title":"Novel Alzheimer risk genes determine the microglia response to amyloid-beta but not to TAU pathology","volume":"12","author":"Sierksma","year":"2020","journal-title":"EMBO Mol. Med."},{"issue":"15","key":"10.1016\/j.cellsig.2020.109879_bb0610","doi-asserted-by":"crossref","first-page":"5223","DOI":"10.1523\/JNEUROSCI.4860-11.2012","article-title":"Lysosomal dysfunction in a mouse model of Sandhoff disease leads to accumulation of ganglioside-bound amyloid-beta peptide","volume":"32","author":"Keilani","year":"2012","journal-title":"J. Neurosci."},{"key":"10.1016\/j.cellsig.2020.109879_bb0615","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1186\/1750-1326-8-34","article-title":"Cross-talk of membrane lipids and Alzheimer-related proteins","volume":"8","author":"Walter","year":"2013","journal-title":"Mol. Neurodegener."},{"issue":"4","key":"10.1016\/j.cellsig.2020.109879_bb0620","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.plipres.2012.07.001","article-title":"Sphingolipids: critical players in Alzheimer\u2019s disease","volume":"51","author":"van Echten-Deckert","year":"2012","journal-title":"Prog. Lipid Res."},{"issue":"4","key":"10.1016\/j.cellsig.2020.109879_bb0625","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1152\/physrev.00022.2010","article-title":"What genetics tells us about the causes and mechanisms of Parkinson\u2019s disease","volume":"91","author":"Corti","year":"2011","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.cellsig.2020.109879_bb0630","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/s40035-015-0042-0","article-title":"Neuroinflammation in Parkinson's disease and its potential as therapeutic target","volume":"4","author":"Wang","year":"2015","journal-title":"Transl. Neurodegener."},{"issue":"17","key":"10.1016\/j.cellsig.2020.109879_bb0635","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1056\/NEJMoa0901281","article-title":"Multicenter analysis of glucocerebrosidase mutations in Parkinson\u2019s disease","volume":"361","author":"Sidransky","year":"2009","journal-title":"N. Engl. J. Med."},{"issue":"17","key":"10.1016\/j.cellsig.2020.109879_bb0640","doi-asserted-by":"crossref","first-page":"1424","DOI":"10.1212\/WNL.0b013e3181b28601","article-title":"Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset","volume":"73","author":"Sidransky","year":"2009","journal-title":"Neurology"},{"issue":"10","key":"10.1016\/j.cellsig.2020.109879_bb0645","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1038\/ng.3955","article-title":"A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci","volume":"49","author":"Chang","year":"2017","journal-title":"Nat. Genet."},{"issue":"9","key":"10.1016\/j.cellsig.2020.109879_bb0650","doi-asserted-by":"crossref","first-page":"2845","DOI":"10.1093\/brain\/awz205","article-title":"Arylsulfatase A, a genetic modifier of Parkinson's disease, is an alpha-synuclein chaperone","volume":"142","author":"Lee","year":"2019","journal-title":"Brain"},{"issue":"12","key":"10.1016\/j.cellsig.2020.109879_bb0655","doi-asserted-by":"crossref","first-page":"3191","DOI":"10.1093\/brain\/awx285","article-title":"Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease","volume":"140","author":"Robak","year":"2017","journal-title":"Brain"},{"issue":"1","key":"10.1016\/j.cellsig.2020.109879_bb0660","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/s13024-019-0339-z","article-title":"Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson\u2019s disease","volume":"14","author":"Huebecker","year":"2019","journal-title":"Mol. Neurodegener."},{"issue":"1","key":"10.1016\/j.cellsig.2020.109879_bb0665","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."}],"container-title":["Cellular Signalling"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0898656820303569?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0898656820303569?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T11:04:45Z","timestamp":1760267085000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0898656820303569"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2]]},"references-count":133,"alternative-id":["S0898656820303569"],"URL":"https:\/\/doi.org\/10.1016\/j.cellsig.2020.109879","relation":{},"ISSN":["0898-6568"],"issn-type":[{"value":"0898-6568","type":"print"}],"subject":[],"published":{"date-parts":[[2021,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic defects in the sphingolipid degradation pathway and their effects on microglia in neurodegenerative disease","name":"articletitle","label":"Article Title"},{"value":"Cellular Signalling","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cellsig.2020.109879","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"109879"}}