{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T03:21:39Z","timestamp":1788837699406,"version":"build-2803163510"},"reference-count":79,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["2R01GM043880"],"award-info":[{"award-number":["2R01GM043880"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K99HD096117"],"award-info":[{"award-number":["K99HD096117"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Advances in Biological Regulation"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1016\/j.jbior.2018.08.001","type":"journal-article","created":{"date-parts":[[2018,8,28]],"date-time":"2018-08-28T18:08:41Z","timestamp":1535479721000},"page":"82-88","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":70,"special_numbering":"C","title":["Niemann-Pick type C disease: The atypical sphingolipidosis"],"prefix":"10.1016","volume":"70","author":[{"given":"Jason","family":"Newton","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheldon","family":"Milstien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Spiegel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"46","key":"10.1016\/j.jbior.2018.08.001_bib1","doi-asserted-by":"crossref","first-page":"19316","DOI":"10.1073\/pnas.0910916106","article-title":"Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport of cholesterol in Niemann-Pick type C cells","volume":"106","author":"Abi-Mosleh","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"1","key":"10.1016\/j.jbior.2018.08.001_bib2","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.advenzreg.2011.09.015","article-title":"Truth and consequences of sphingosine-1-phosphate lyase","volume":"52","author":"Aguilar","year":"2012","journal-title":"Adv. Biol. Regul."},{"issue":"2","key":"10.1016\/j.jbior.2018.08.001_bib3","doi-asserted-by":"crossref","first-page":"825","DOI":"10.3233\/JAD-160930","article-title":"The level of 24-hydroxycholesteryl esters is an early marker of Alzheimer's disease","volume":"56","author":"Benussi","year":"2017","journal-title":"J Alzheimers Dis"},{"issue":"6","key":"10.1016\/j.jbior.2018.08.001_bib4","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1194\/jlr.P048603","article-title":"On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO","volume":"55","author":"Bjorkhem","year":"2014","journal-title":"J. Lipid Res."},{"issue":"2","key":"10.1016\/j.jbior.2018.08.001_bib5","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1073\/pnas.55.2.366","article-title":"The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae","volume":"55","author":"Brady","year":"1966","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"2","key":"10.1016\/j.jbior.2018.08.001_bib6","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1073\/pnas.84.2.556","article-title":"Niemann-pick variant disorders: comparison of errors of cellular cholesterol homeostasis in group D and group C fibroblasts","volume":"84","author":"Butler","year":"1987","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"5323","key":"10.1016\/j.jbior.2018.08.001_bib7","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1126\/science.277.5323.228","article-title":"Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis","volume":"277","author":"Carstea","year":"1997","journal-title":"Science"},{"issue":"3","key":"10.1016\/j.jbior.2018.08.001_bib8","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1016\/j.cellsig.2009.11.001","article-title":"Enhanced Ca2+ storage in sphingosine-1-phosphate lyase-deficient fibroblasts","volume":"22","author":"Claas","year":"2010","journal-title":"Cell. Signal."},{"key":"10.1016\/j.jbior.2018.08.001_bib9","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.jbior.2016.10.002","article-title":"Ceramidases, roles in sphingolipid metabolism and in health and disease","volume":"63","author":"Coant","year":"2017","journal-title":"Adv Biol Regul"},{"issue":"1","key":"10.1016\/j.jbior.2018.08.001_bib10","doi-asserted-by":"crossref","first-page":"6149","DOI":"10.1038\/s41598-017-06604-2","article-title":"C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease","volume":"7","author":"Cozma","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.jbior.2018.08.001_bib11","first-page":"3830424","article-title":"Miglustat reverts the impairment of synaptic plasticity in a mouse model of NPC disease","volume":"2016","author":"D'Arcangelo","year":"2016","journal-title":"Neural Plast."},{"issue":"9","key":"10.1016\/j.jbior.2018.08.001_bib12","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0006951","article-title":"Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression","volume":"4","author":"Davidson","year":"2009","journal-title":"PLoS One"},{"key":"10.1016\/j.jbior.2018.08.001_bib13","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.neulet.2018.02.041","article-title":"The level of 24-hydroxycholesteryl esters decreases in plasma of patients with Parkinson's disease","volume":"672","author":"Di Natale","year":"2018","journal-title":"Neurosci. Lett."},{"issue":"1","key":"10.1016\/j.jbior.2018.08.001_bib14","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1023\/A:1005650930330","article-title":"Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice","volume":"23","author":"Erickson","year":"2000","journal-title":"J. Inherit. Metab. Dis."},{"issue":"10","key":"10.1016\/j.jbior.2018.08.001_bib15","doi-asserted-by":"crossref","first-page":"2800","DOI":"10.1194\/jlr.M040618","article-title":"Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling","volume":"54","author":"Fan","year":"2013","journal-title":"J. Lipid Res."},{"issue":"21","key":"10.1016\/j.jbior.2018.08.001_bib16","doi-asserted-by":"crossref","first-page":"3607","DOI":"10.1038\/emboj.2010.237","article-title":"Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders","volume":"29","author":"Fraldi","year":"2010","journal-title":"EMBO J."},{"key":"10.1016\/j.jbior.2018.08.001_bib17","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.jbior.2017.10.005","article-title":"Sphingosine kinase 1 in breast cancer","volume":"67","author":"Geffken","year":"2018","journal-title":"Adv Biol Regul"},{"issue":"3","key":"10.1016\/j.jbior.2018.08.001_bib18","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/0005-2760(92)90236-O","article-title":"Type C Niemann-Pick disease: a murine model of the lysosomal cholesterol lipidosis accumulates sphingosine and sphinganine in liver","volume":"1127","author":"Goldin","year":"1992","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.jbior.2018.08.001_bib19","article-title":"Sphingolipids and neuronal degeneration in lysosomal storage disorders","author":"Grassi","year":"2018","journal-title":"J. Neurochem."},{"issue":"3","key":"10.1016\/j.jbior.2018.08.001_bib20","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/nrm.2017.107","article-title":"Sphingolipids and their metabolism in physiology and disease","volume":"19","author":"Hannun","year":"2018","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.jbior.2018.08.001_bib21","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/1750-1172-7-36","article-title":"Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C","volume":"7","author":"Heron","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.jbior.2018.08.001_bib22","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.10616","article-title":"Intracellular sphingosine releases calcium from lysosomes","volume":"4","author":"Hoglinger","year":"2015","journal-title":"Elife"},{"issue":"7","key":"10.1016\/j.jbior.2018.08.001_bib23","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":"Hoglinger","year":"2017","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"337","key":"10.1016\/j.jbior.2018.08.001_bib24","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aaf2326","article-title":"Development of a bile acid-based newborn screen for Niemann-Pick disease type C","volume":"8","author":"Jiang","year":"2016","journal-title":"Sci. Transl. Med."},{"issue":"7","key":"10.1016\/j.jbior.2018.08.001_bib25","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1194\/jlr.D015735","article-title":"A sensitive and specific LC-MS\/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma","volume":"52","author":"Jiang","year":"2011","journal-title":"J. Lipid Res."},{"issue":"2","key":"10.1016\/j.jbior.2018.08.001_bib26","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.ceca.2009.12.007","article-title":"Aberrant Ca2+ handling in lysosomal storage disorders","volume":"47","author":"Kiselyov","year":"2010","journal-title":"Cell Calcium"},{"issue":"9","key":"10.1016\/j.jbior.2018.08.001_bib27","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.clinbiochem.2015.03.007","article-title":"LC-MS\/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases","volume":"48","author":"Klinke","year":"2015","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.jbior.2018.08.001_bib28","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.ab.2017.02.019","article-title":"Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A\/B and C diseases","volume":"525","author":"Kuchar","year":"2017","journal-title":"Anal. Biochem."},{"issue":"7","key":"10.1016\/j.jbior.2018.08.001_bib29","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"},{"issue":"3","key":"10.1016\/j.jbior.2018.08.001_bib30","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1016\/j.nbd.2004.05.002","article-title":"Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C","volume":"16","author":"Lachmann","year":"2004","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.jbior.2018.08.001_bib31","doi-asserted-by":"crossref","first-page":"5514","DOI":"10.1038\/ncomms6514","article-title":"Pathological roles of the VEGF\/SphK pathway in Niemann-Pick type C neurons","volume":"5","author":"Lee","year":"2014","journal-title":"Nat. Commun."},{"issue":"36","key":"10.1016\/j.jbior.2018.08.001_bib32","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":"29","key":"10.1016\/j.jbior.2018.08.001_bib33","doi-asserted-by":"crossref","first-page":"8212","DOI":"10.1073\/pnas.1607795113","article-title":"Structure of human Niemann-Pick C1 protein","volume":"113","author":"Li","year":"2016","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"8","key":"10.1016\/j.jbior.2018.08.001_bib34","doi-asserted-by":"crossref","first-page":"3074","DOI":"10.1074\/jbc.M116.762377","article-title":"Sphingosine and sphingosine kinase 1 involvement in endocytic membrane trafficking","volume":"292","author":"Lima","year":"2017","journal-title":"J. Biol. Chem."},{"issue":"11","key":"10.1016\/j.jbior.2018.08.001_bib35","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."},{"issue":"4","key":"10.1016\/j.jbior.2018.08.001_bib36","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1111\/j.1600-0854.2010.01032.x","article-title":"Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease","volume":"11","author":"Lloyd-Evans","year":"2010","journal-title":"Traffic"},{"issue":"6","key":"10.1016\/j.jbior.2018.08.001_bib37","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1042\/BST0381458","article-title":"Endolysosomal calcium regulation and disease","volume":"38","author":"Lloyd-Evans","year":"2010","journal-title":"Biochem. Soc. Trans."},{"issue":"5323","key":"10.1016\/j.jbior.2018.08.001_bib38","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1126\/science.277.5323.232","article-title":"Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene","volume":"277","author":"Loftus","year":"1997","journal-title":"Science"},{"key":"10.1016\/j.jbior.2018.08.001_bib39","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.12177","article-title":"Identification of NPC1 as the target of U18666A, an inhibitor of lysosomal cholesterol export and Ebola infection","volume":"4","author":"Lu","year":"2015","journal-title":"Elife"},{"issue":"6","key":"10.1016\/j.jbior.2018.08.001_bib40","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1080\/15548627.2015.1047130","article-title":"Lysosomal calcium regulates autophagy","volume":"11","author":"Medina","year":"2015","journal-title":"Autophagy"},{"issue":"3","key":"10.1016\/j.jbior.2018.08.001_bib41","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1038\/ncb3114","article-title":"Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB","volume":"17","author":"Medina","year":"2015","journal-title":"Nat. Cell Biol."},{"issue":"14","key":"10.1016\/j.jbior.2018.08.001_bib42","doi-asserted-by":"crossref","first-page":"9627","DOI":"10.1074\/jbc.274.14.9627","article-title":"The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo","volume":"274","author":"Neufeld","year":"1999","journal-title":"J. Biol. Chem."},{"issue":"4","key":"10.1016\/j.jbior.2018.08.001_bib43","doi-asserted-by":"crossref","first-page":"1719","DOI":"10.1096\/fj.201601041R","article-title":"FTY720\/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts","volume":"31","author":"Newton","year":"2017","journal-title":"Faseb. J."},{"key":"10.1016\/j.jbior.2018.08.001_bib44","doi-asserted-by":"crossref","first-page":"1758","DOI":"10.1016\/S0140-6736(17)31465-4","article-title":"Intrathecal 2-hydroxypropyl-beta-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial","author":"Ory","year":"2017","journal-title":"Lancet"},{"issue":"4","key":"10.1016\/j.jbior.2018.08.001_bib45","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1002\/humu.10255","article-title":"Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1","volume":"22","author":"Park","year":"2003","journal-title":"Hum. Mutat."},{"issue":"5","key":"10.1016\/j.jbior.2018.08.001_bib46","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.tcb.2010.02.003","article-title":"Acidic calcium stores open for business: expanding the potential for intracellular Ca2+ signaling","volume":"20","author":"Patel","year":"2010","journal-title":"Trends Cell Biol."},{"issue":"6","key":"10.1016\/j.jbior.2018.08.001_bib47","doi-asserted-by":"crossref","first-page":"2772","DOI":"10.1016\/S0021-9258(17)35852-0","article-title":"The cholesterol storage disorder of the mutant BALB\/c mouse. A primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease","volume":"261","author":"Pentchev","year":"1986","journal-title":"J. Biol. Chem."},{"issue":"35","key":"10.1016\/j.jbior.2018.08.001_bib48","doi-asserted-by":"crossref","first-page":"16775","DOI":"10.1016\/S0021-9258(18)66633-5","article-title":"Type C Niemann-Pick disease. A parallel loss of regulatory responses in both the uptake and esterification of low density lipoprotein-derived cholesterol in cultured fibroblasts","volume":"261","author":"Pentchev","year":"1986","journal-title":"J. Biol. Chem."},{"issue":"3","key":"10.1016\/j.jbior.2018.08.001_bib49","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1007\/s10545-017-0126-3","article-title":"Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders","volume":"41","author":"Piraud","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"issue":"7503","key":"10.1016\/j.jbior.2018.08.001_bib50","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":"56","key":"10.1016\/j.jbior.2018.08.001_bib51","doi-asserted-by":"crossref","first-page":"56ra81","DOI":"10.1126\/scitranslmed.3001417","article-title":"Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease","volume":"2","author":"Porter","year":"2010","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.jbior.2018.08.001_bib52","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.jbior.2015.09.001","article-title":"Role of sphingosine 1-phosphate receptors, sphingosine kinases and sphingosine in cancer and inflammation","volume":"60","author":"Pyne","year":"2016","journal-title":"Adv. Biol. Regul."},{"key":"10.1016\/j.jbior.2018.08.001_bib53","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.ebiom.2015.12.018","article-title":"Rapid diagnosis of 83 patients with Niemann pick type C disease and related cholesterol transport disorders by cholestantriol screening","volume":"4","author":"Reunert","year":"2016","journal-title":"EBioMedicine"},{"issue":"2","key":"10.1016\/j.jbior.2018.08.001_bib54","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/0925-4439(94)90021-3","article-title":"Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders","volume":"1226","author":"Rodriguez-Lafrasse","year":"1994","journal-title":"Biochim. Biophys. Acta"},{"issue":"1","key":"10.1016\/j.jbior.2018.08.001_bib55","doi-asserted-by":"crossref","first-page":"10984","DOI":"10.1038\/s41598-018-28862-4","article-title":"Gut sphingolipid composition as a prelude to necrotizing enterocolitis","volume":"8","author":"Rusconi","year":"2018","journal-title":"Sci. Rep."},{"issue":"17","key":"10.1016\/j.jbior.2018.08.001_bib56","doi-asserted-by":"crossref","first-page":"17674","DOI":"10.1074\/jbc.M313517200","article-title":"Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C","volume":"279","author":"Salvioli","year":"2004","journal-title":"J. Biol. Chem."},{"issue":"5","key":"10.1016\/j.jbior.2018.08.001_bib57","doi-asserted-by":"crossref","first-page":"1302","DOI":"10.1016\/j.celrep.2013.10.042","article-title":"Impaired autophagy in the lipid-storage disorder Niemann-Pick type C1 disease","volume":"5","author":"Sarkar","year":"2013","journal-title":"Cell Rep."},{"issue":"6","key":"10.1016\/j.jbior.2018.08.001_bib58","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.4161\/auto.28623","article-title":"Restarting stalled autophagy a potential therapeutic approach for the lipid storage disorder, Niemann-Pick type C1 disease","volume":"10","author":"Sarkar","year":"2014","journal-title":"Autophagy"},{"issue":"7","key":"10.1016\/j.jbior.2018.08.001_bib59","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1038\/ncb2987","article-title":"Coupling between endocytosis and sphingosine kinase 1 recruitment","volume":"16","author":"Shen","year":"2014","journal-title":"Nat. Cell Biol."},{"issue":"6","key":"10.1016\/j.jbior.2018.08.001_bib60","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1194\/jlr.D058487","article-title":"A validated LC-MS\/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid","volume":"56","author":"Sidhu","year":"2015","journal-title":"J. Lipid Res."},{"issue":"7","key":"10.1016\/j.jbior.2018.08.001_bib61","doi-asserted-by":"crossref","first-page":"3411","DOI":"10.1016\/S0021-9258(18)69086-6","article-title":"Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol","volume":"263","author":"Sokol","year":"1988","journal-title":"J. Biol. Chem."},{"issue":"5","key":"10.1016\/j.jbior.2018.08.001_bib62","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1097\/NEN.0b013e31825414a6","article-title":"Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C","volume":"71","author":"Stein","year":"2012","journal-title":"J. Neuropathol. Exp. Neurol."},{"issue":"22","key":"10.1016\/j.jbior.2018.08.001_bib63","doi-asserted-by":"crossref","first-page":"12391","DOI":"10.1073\/pnas.221181998","article-title":"Accumulation of cholera toxin and GM1 ganglioside in the early endosome of Niemann-Pick C1-deficient cells","volume":"98","author":"Sugimoto","year":"2001","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"25","key":"10.1016\/j.jbior.2018.08.001_bib64","doi-asserted-by":"crossref","first-page":"26167","DOI":"10.1074\/jbc.M311591200","article-title":"Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport","volume":"279","author":"te Vruchte","year":"2004","journal-title":"J. Biol. Chem."},{"issue":"3","key":"10.1016\/j.jbior.2018.08.001_bib65","doi-asserted-by":"crossref","first-page":"1320","DOI":"10.1172\/JCI72835","article-title":"Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker","volume":"124","author":"te Vruchte","year":"2014","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.jbior.2018.08.001_bib66","doi-asserted-by":"crossref","first-page":"41408","DOI":"10.1038\/srep41408","article-title":"A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency","volume":"7","author":"Tharkeshwar","year":"2017","journal-title":"Sci. Rep."},{"issue":"7","key":"10.1016\/j.jbior.2018.08.001_bib67","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1080\/15548627.2015.1054594","article-title":"Intracellular calcium signaling regulates autophagy via calcineurin-mediated TFEB dephosphorylation","volume":"11","author":"Tong","year":"2015","journal-title":"Autophagy"},{"issue":"29","key":"10.1016\/j.jbior.2018.08.001_bib68","doi-asserted-by":"crossref","first-page":"25855","DOI":"10.1074\/jbc.R200010200","article-title":"Sphingolipid transport: rafts and translocators","volume":"277","author":"van Meer","year":"2002","journal-title":"J. Biol. Chem."},{"issue":"1","key":"10.1016\/j.jbior.2018.08.001_bib69","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/s10545-014-9794-4","article-title":"Complex lipid trafficking in Niemann-Pick disease type C","volume":"38","author":"Vanier","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"issue":"4","key":"10.1016\/j.jbior.2018.08.001_bib70","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.ymgme.2016.06.004","article-title":"Diagnostic tests for Niemann-Pick disease type C (NP-C): a critical review","volume":"118","author":"Vanier","year":"2016","journal-title":"Mol. Genet. Metabol."},{"issue":"3","key":"10.1016\/j.jbior.2018.08.001_bib71","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/0009-8981(80)90309-5","article-title":"Sphingomyelinase activities of various human tissues in control subjects and in Niemann-Pick disease - development and evaluation of a microprocedure","volume":"106","author":"Vanier","year":"1980","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.jbior.2018.08.001_bib72","doi-asserted-by":"crossref","first-page":"43575","DOI":"10.1038\/srep43575","article-title":"Characterization of cholesterol homeostasis in sphingosine-1-phosphate lyase-deficient fibroblasts reveals a Niemann-Pick disease type C-like phenotype with enhanced lysosomal Ca(2+) storage","volume":"7","author":"Vienken","year":"2017","journal-title":"Sci. Rep."},{"issue":"27","key":"10.1016\/j.jbior.2018.08.001_bib73","doi-asserted-by":"crossref","first-page":"20423","DOI":"10.1074\/jbc.R110.134452","article-title":"Common and uncommon pathogenic cascades in lysosomal storage diseases","volume":"285","author":"Vitner","year":"2010","journal-title":"J. Biol. Chem."},{"issue":"2","key":"10.1016\/j.jbior.2018.08.001_bib74","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.cmet.2010.05.016","article-title":"Identification of surface residues on Niemann-Pick C2 essential for hydrophobic handoff of cholesterol to NPC1 in lysosomes","volume":"12","author":"Wang","year":"2010","journal-title":"Cell Metabol."},{"issue":"12","key":"10.1016\/j.jbior.2018.08.001_bib75","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0114669","article-title":"Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study","volume":"9","author":"Welford","year":"2014","journal-title":"PLoS One"},{"issue":"37","key":"10.1016\/j.jbior.2018.08.001_bib76","doi-asserted-by":"crossref","first-page":"15330","DOI":"10.1073\/pnas.1112751108","article-title":"Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice","volume":"108","author":"Xie","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"2","key":"10.1016\/j.jbior.2018.08.001_bib77","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1006\/bbrc.1994.1064","article-title":"The attenuated elevation of cytoplasmic calcium concentration following the uptake of low density lipoprotein in type C Niemann-Pick fibroblasts","volume":"198","author":"Yamamoto","year":"1994","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"6","key":"10.1016\/j.jbior.2018.08.001_bib78","doi-asserted-by":"crossref","first-page":"1532","DOI":"10.1016\/j.celrep.2016.10.019","article-title":"Sphingosine kinase 1 cooperates with autophagy to maintain endocytic membrane trafficking","volume":"17","author":"Young","year":"2016","journal-title":"Cell Rep."},{"issue":"16","key":"10.1016\/j.jbior.2018.08.001_bib79","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1016\/S0960-9822(01)00396-7","article-title":"Critical role for glycosphingolipids in Niemann-Pick disease type C","volume":"11","author":"Zervas","year":"2001","journal-title":"Curr. Biol."}],"container-title":["Advances in Biological Regulation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2212492618301283?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2212492618301283?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T22:24:35Z","timestamp":1761949475000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2212492618301283"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12]]},"references-count":79,"alternative-id":["S2212492618301283"],"URL":"https:\/\/doi.org\/10.1016\/j.jbior.2018.08.001","relation":{},"ISSN":["2212-4926"],"issn-type":[{"value":"2212-4926","type":"print"}],"subject":[],"published":{"date-parts":[[2018,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Niemann-Pick type C disease: The atypical sphingolipidosis","name":"articletitle","label":"Article Title"},{"value":"Advances in Biological Regulation","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jbior.2018.08.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}]}}