{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T03:50:35Z","timestamp":1791085835662,"version":"4.1.0"},"reference-count":137,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2009,4,1]],"date-time":"2009-04-01T00:00:00Z","timestamp":1238544000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,18]],"date-time":"2013-07-18T00:00:00Z","timestamp":1374105600000},"content-version":"vor","delay-in-days":1569,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Cell Research"],"published-print":{"date-parts":[[2009,4]]},"DOI":"10.1016\/j.bbamcr.2008.11.014","type":"journal-article","created":{"date-parts":[[2008,12,10]],"date-time":"2008-12-10T15:09:59Z","timestamp":1228921799000},"page":"726-736","source":"Crossref","is-referenced-by-count":202,"title":["Secondary lipid accumulation in lysosomal disease"],"prefix":"10.1016","volume":"1793","author":[{"given":"Steven U.","family":"Walkley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie T.","family":"Vanier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbamcr.2008.11.014_bib1","series-title":"Lysosomal Disorders of the Brain","first-page":"32","article-title":"Lysosomal defects and storage","author":"Platt","year":"2004"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib2","series-title":"Cerebral lipidoses","first-page":"171","article-title":"Abnormalities in lipid metabolism in two members of a family with Niemann-Pick disease","author":"Cumings","year":"1962"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib3","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1001\/archpedi.1969.02100030381001","article-title":"Infantile Niemann-Pick disease. A chemical study with isolation and characterization of membranous cytoplasmic bodies and myelin","volume":"117","author":"Kamoshita","year":"1969","journal-title":"Am. J. Dis. Child"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib4","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1001\/archneur.1972.00490130047007","article-title":"Niemann-Pick disease (Crocker's group A). Late onset and pigmentary degeneration resembling Hallervorden-Spatz syndrome","volume":"27","author":"Martin","year":"1972","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib5","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/0009-8981(73)90363-X","article-title":"Altered levels of tissue glycoproteins, gangliosides, glycosaminoglycans and lipids in Niemann-Pick's disease","volume":"48","author":"Brunngraber","year":"1973","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib6","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1023\/A:1022501702403","article-title":"Sphingosylphosphorylcholine in Niemann-Pick disease brain: accumulation in type A but not in type B","volume":"24","author":"Rodriguez-Lafrasse","year":"1999","journal-title":"Neurochem. Res."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib7","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1111\/j.1471-4159.1961.tb13499.x","article-title":"The cerebral defect in Tay-Sachs disease and Niemann-Pick disease","volume":"7","author":"Crocker","year":"1961","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib8","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1001\/archneur.1969.00480090015001","article-title":"Niemann-Pick disease. Morphologic and biochemical studies in the visceral form with late central nervous system involvement (Crocker's group C)","volume":"20","author":"Philippart","year":"1969","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib9","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1111\/j.1471-4159.1973.tb06031.x","article-title":"Brain lipids of a case of juvenile Niemann-Pick disease","volume":"21","author":"Tjiong","year":"1973","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib10","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/BF00685003","article-title":"Neurovisceral lipidosis compatible with Niemann-Pick disease type C: morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family","volume":"43","author":"Harzer","year":"1978","journal-title":"Acta Neuropathol. (Berl)"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib11","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1007\/BF00690966","article-title":"Niemann-Pick disease type C. Study on the nature of the cerebral storage process","volume":"66","author":"Elleder","year":"1985","journal-title":"Acta Neuropathol. (Berl)"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib12","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/S0344-0338(89)80006-8","article-title":"Niemann-Pick disease","volume":"185","author":"Elleder","year":"1989","journal-title":"Pathol. Res. Pract."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib13","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1023\/A:1022575511354","article-title":"Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature","volume":"24","author":"Vanier","year":"1999","journal-title":"Neurochem. Res."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib14","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1016\/0005-2760(80)90116-2","article-title":"A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase","volume":"619","author":"Pentchev","year":"1980","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib15","doi-asserted-by":"crossref","first-page":"5886","DOI":"10.1073\/pnas.0308456101","article-title":"Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport","volume":"101","author":"Sleat","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib16","first-page":"337","article-title":"Niemann-Pick disease type B: prenatal diagnosis and enzymatic and chemical studies on fetal brain and liver","volume":"33","author":"Wenger","year":"1981","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib17","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1111\/j.1399-0004.1985.tb00409.x","article-title":"Niemann-Pick disease type B: first-trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12\u00a0weeks of development","volume":"28","author":"Vanier","year":"1985","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib18","first-page":"175","article-title":"Pathophysiological approach of Niemann-Pick disease type C; definition of a biochemical heterogeneity and reevaluation of the lipid storage process","volume":"vol. 150","author":"Vanier","year":"1988"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib19","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1093\/hmg\/5.6.711","article-title":"Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids","volume":"5","author":"Fujita","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib20","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1093\/hmg\/10.9.927","article-title":"A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation","volume":"10","author":"Hulkova","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib21","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1111\/j.1471-4159.2008.05497.x","article-title":"Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis","volume":"106","author":"Jabs","year":"2008","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib22","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1111\/j.1471-4159.1978.tb12388.x","article-title":"Neurochemistry of the mucopolysaccharidoses: brain lipids and lysosomal enzymes in patients with four types of mucopolysaccharidosis and in normal controls","volume":"30","author":"Constantopoulos","year":"1978","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib23","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1111\/j.1471-4159.1980.tb11220.x","article-title":"Mucopolysaccharidosis types IH, IS, II, and IIIA: glycosaminoglycans and lipids of isolated brain cells and other fractions from autopsied tissues","volume":"34","author":"Constantopoulos","year":"1980","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib24","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/0022-510X(79)90193-X","article-title":"Two cases of mucopolysaccharidosis type III (Sanfilippo). A biochemical study","volume":"40","author":"Van Dessel","year":"1979","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib25","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/S0022-2275(20)37837-8","article-title":"Abnormalities of glycosphingolipids in mucopolysaccharidosis type III B","volume":"25","author":"Hara","year":"1984","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib26","doi-asserted-by":"crossref","first-page":"14505","DOI":"10.1073\/pnas.96.25.14505","article-title":"Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase","volume":"96","author":"Li","year":"1999","journal-title":"Proc. Natl. Acad. Sci. U. S. A"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib27","doi-asserted-by":"crossref","first-page":"292","DOI":"10.2307\/1591870","article-title":"Gangliosidosis in emus (Dromaius novaehollandiae)","volume":"39","author":"Bermudez","year":"1995","journal-title":"Avian Dis"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib28","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1111\/j.1471-4159.1985.tb05544.x","article-title":"Neurochemical characterization of canine alpha-L-iduronidase deficiency disease (model of human mucopolysaccharidosis I)","volume":"45","author":"Constantopoulos","year":"1985","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib29","doi-asserted-by":"crossref","first-page":"1852","DOI":"10.1046\/j.1471-4159.1994.62051852.x","article-title":"Growth of ectopic dendrites on cortical pyramidal neurons in neuronal storage diseases correlates with abnormal accumulation of GM2 ganglioside","volume":"62","author":"Siegel","year":"1994","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib30","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1111\/j.1399-0004.1998.tb02745.x","article-title":"Murine MPS I: insights into the pathogenesis of Hurler syndrome","volume":"53","author":"Russell","year":"1998","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib31","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.ymgme.2007.03.001","article-title":"Bone marrow transplantation for feline mucopolysaccharidosis I","volume":"91","author":"Ellinwood","year":"2007","journal-title":"Mol. Genet. Metab"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib32","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1111\/j.1471-4159.1974.tb06900.x","article-title":"Brain sphingolipids in I cell disease (mucolipidosis II)","volume":"22","author":"Dacremont","year":"1974","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib33","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1093\/jnen\/60.1.49","article-title":"Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations","volume":"60","author":"Zervas","year":"2001","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib34","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/cne.20355","article-title":"Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders","volume":"480","author":"McGlynn","year":"2004","journal-title":"J. Comp. Neurol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib35","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1111\/j.1365-2990.2005.00675.x","article-title":"Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease","volume":"31","author":"Walkley","year":"2005","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib36","unstructured":"M. C. Micsenyi, K. Dobrenis, G. Stephney, J. Pickel, M. T. Vanier, S. A. Slaugenhaupt, and S. U. Walkley, Mucolipidosis type IV: Neuropathology of the Mcoln1-\/- Knockout Mouse Model (in press)."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib37","doi-asserted-by":"crossref","first-page":"11330","DOI":"10.1073\/pnas.88.24.11330","article-title":"Ectopic dendrites occur only on cortical pyramidal cells containing elevated GM2 ganglioside in \u03b1-mannosidosis","volume":"88","author":"Goodman","year":"1991","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib38","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1016\/0306-4522(95)00208-Z","article-title":"Pyramidal neurons with ectopic dendrites in storage diseases exhibit increased GM2 ganglioside immunoreactivity","volume":"68","author":"Walkley","year":"1995","journal-title":"Neuroscience"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib39","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."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib40","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/j.semcdb.2004.03.002","article-title":"Secondary accumulation of gangliosides in lysosomal storage disorders","volume":"15","author":"Walkley","year":"2004","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib41","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1111\/j.1651-2227.2007.00202.x","article-title":"Pathogenic mechanisms in lysosomal disease: a reappraisal of the role of the lysosome","volume":"96","author":"Walkley","year":"2007","journal-title":"Acta Paediatr. Suppl."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib42","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1111\/j.1651-2227.1975.tb03896.x","article-title":"Chemical pathlogy of Krabbe's disease. III. Ceramide-hexosides and gangliosides of brain","volume":"64","author":"Vanier","year":"1975","journal-title":"Ata Paediatr. Scand."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib43","doi-asserted-by":"crossref","first-page":"1772","DOI":"10.1111\/j.1471-4159.1987.tb02435.x","article-title":"Large alterations in ganglioside and neutral glycosphingolipid patterns in brains from cases with infantile neuronal ceroid lipofuscinosis\/polyunsaturated fatty acid lipidosis","volume":"49","author":"Svennerholm","year":"1987","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib44","first-page":"231","article-title":"Glycolipid, mucopolysaccharide and carbohydrate distribution in tissues, plasma and urine from glycolipidoses and other disorders","volume":"Vol. 25","author":"Philippart","year":"1972"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib45","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/0009-8981(74)90124-7","article-title":"Glucosylceramide in plasma of patients with Niemann-Pick disease","volume":"52","author":"Dacremont","year":"1974","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib46","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/0005-2760(83)90218-7","article-title":"Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen","volume":"750","author":"Vanier","year":"1983","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib47","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/0005-2760(82)90272-7","article-title":"The occurrence of psychosine and other glycolipids in spleen and liver from the three major types of Gaucher's disease","volume":"712","author":"Nilsson","year":"1982","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib48","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.cca.2007.12.001","article-title":"Prominent increase in plasma ganglioside GM3 is associated with clinical manifestations of type I Gaucher disease","volume":"389","author":"Ghauharali-van der Vlugt","year":"2008","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib49","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/s00428-005-1246-y","article-title":"Lactosylceramide in lysosomal storage disorders: a comparative immunohistochemical and biochemical study","volume":"447","author":"Hulkova","year":"2005","journal-title":"Virchows Arch."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib50","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/978-1-4684-7735-1_8","article-title":"Chemical pathology of Krabbe disease: the occurrence of psychosine and other neutral sphingoglycolipids","volume":"68","author":"Vanier","year":"1976","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib51","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/S0022-2275(20)39839-4","article-title":"Krabbe disease: a galactosylsphingosine (psychosine) lipidosis","volume":"21","author":"Svennerholm","year":"1980","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib52","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1126\/science.6719111","article-title":"Progressive accumulation of toxic metabolite in a genetic leukodystrophy","volume":"224","author":"Igisu","year":"1984","journal-title":"Science"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib53","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1111\/j.1471-4159.1982.tb07950.x","article-title":"Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease","volume":"39","author":"Nilsson","year":"1982","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib54","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/S1096-7192(02)00117-8","article-title":"Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype","volume":"76","author":"Orvisky","year":"2002","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib55","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1515\/bchm3.1986.367.1.241","article-title":"Occurrence of lysoganglioside lyso-GM2 (II3-Neu5Ac-gangliotriaosylsphingosine) in GM2 gangliosidosis brain","volume":"367","author":"Neuenhofer","year":"1986","journal-title":"Biol. Chem. Hoppe Seyler"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib56","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1111\/j.1471-4159.1987.tb00969.x","article-title":"Composition of gangliosides and neutral glycosphingolipids of brain in classical Tay-Sachs and Sandhoff disease: more lyso-GM2 in Sandhoff disease?","volume":"49","author":"Rosengren","year":"1987","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib57","doi-asserted-by":"crossref","first-page":"1585","DOI":"10.1111\/j.1471-4159.1990.tb04942.x","article-title":"Lysosulfatide (sulfogalactosylsphingosine) accumulation in tissues from patients with metachromatic leukodystrophy","volume":"55","author":"Toda","year":"1990","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib58","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1073\/pnas.0712309105","article-title":"Elevated globotriaosylsphingosine is a hallmark of Fabry disease","volume":"105","author":"Aerts","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib59","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."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib60","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.bbamcr.2008.11.014_bib61","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"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib62","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":"Pt. 3","key":"10.1016\/j.bbamcr.2008.11.014_bib63","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1042\/bj3250787","article-title":"Modulation of protein kinase C by endogenous sphingosine: inhibition of phorbol dibutyrate binding in Niemann-Pick C fibroblasts","volume":"325","author":"Rodriguez-Lafrasse","year":"1997","journal-title":"Biochem. J"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib64","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1194\/jlr.M600488-JLR200","article-title":"Lysosomal unesterified cholesterol content correlates with liver cell death in murine Niemann-Pick type C disease","volume":"48","author":"Beltroy","year":"2007","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib65","doi-asserted-by":"crossref","first-page":"1627","DOI":"10.1074\/jbc.M610001200","article-title":"Lipid homeostasis and lipoprotein secretion in Niemann-Pick C1-deficient hepatocytes","volume":"282","author":"Kulinski","year":"2007","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib66","first-page":"483","article-title":"Flow and distribution of cholesterol-effects of phospholipids","volume":"Vol. 40","author":"Slotte","year":"1994"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib67","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1038\/14084","article-title":"Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases","volume":"1","author":"Puri","year":"1999","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib68","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1098\/rstb.2003.1275","article-title":"Endocytic trafficking of glycosphingolipids in sphingolipid storage diseases","volume":"358","author":"Pagano","year":"2003","journal-title":"Philos. Trans. R. Soc. Lond B Biol. Sci."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib69","doi-asserted-by":"crossref","first-page":"11796","DOI":"10.1016\/S0021-9258(18)80136-3","article-title":"The intracellular transport of low density lipoprotein-derived cholesterol is inhibited in Chinese hamster ovary cells cultured with 3-beta-[2-(diethylamino)ethoxy]androst-5-en-17-one","volume":"264","author":"Liscum","year":"1989","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib70","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/0005-2760(90)90284-5","article-title":"Abnormal cholesterol metabolism in imipramine-treated fibroblast cultures. Similarities with Niemann-Pick type C disease","volume":"1043","author":"Rodriguez-Lafrasse","year":"1990","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib71","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1159\/000112179","article-title":"Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transport","volume":"13","author":"Roff","year":"1991","journal-title":"Dev. Neurosci."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib72","doi-asserted-by":"crossref","first-page":"23797","DOI":"10.1016\/S0021-9258(18)35908-8","article-title":"Progesterone blocks cholesterol translocation from lysosomes","volume":"267","author":"Butler","year":"1992","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib73","doi-asserted-by":"crossref","first-page":"17468","DOI":"10.1074\/jbc.M000875200","article-title":"Cholesterol movement in Niemann-Pick type C cells and in cells treated with amphiphiles","volume":"275","author":"Lange","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib74","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1042\/bj2010581","article-title":"Lipid accumulation in liver, spleen, lungs and kidneys of miniature-pigs after chloroquine treatment","volume":"201","author":"Fredman","year":"1982","journal-title":"Biochem. J."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib75","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/BF01813904","article-title":"Enzyme activities and phospholipid storage patterns in brain and spleen samples from Niemann-Pick disease variants: a comparison of neuropathic and non-neuropathic forms","volume":"9","author":"Besley","year":"1986","journal-title":"J. Inherit. Metab Dis."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib76","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1007\/BF02527711","article-title":"Origin of cholesterol in myelin","volume":"21","author":"Morell","year":"1996","journal-title":"Neurochem. Res."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib77","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1194\/jlr.R400004-JLR200","article-title":"Thematic review series: brain Lipids. Cholesterol metabolism in the central nervous system during early development and in the mature animal","volume":"45","author":"Dietschy","year":"2004","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib78","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1042\/BST0340399","article-title":"Lipid dynamics in neurons","volume":"34","author":"Vance","year":"2006","journal-title":"Biochem. Soc. Trans."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib79","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1046\/j.1471-4159.2002.01220.x","article-title":"Cholesterol accumulates in cell bodies, but is decreased in distal axons, of Niemann-Pick C1-deficient neurons","volume":"83","author":"Karten","year":"2002","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib80","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1194\/jlr.D300032-JLR200","article-title":"A novel cholesterol stain reveals early neuronal cholesterol accumulation in the Niemann-Pick type C1 mouse brain","volume":"45","author":"Reid","year":"2004","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib81","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1097\/nen.0b013e31812503b6","article-title":"Developmental analysis of CNS pathology in the lysosomal storage disease alpha-mannosidosis","volume":"66","author":"Crawley","year":"2007","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib82","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/0962-8924(94)90086-8","article-title":"The NP-C gene: a key to pathways of intracellular cholesterol transport","volume":"4","author":"Pentchev","year":"1994","journal-title":"Trends Cell Biol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib83","doi-asserted-by":"crossref","first-page":"1324","DOI":"10.1016\/S0960-9822(03)00531-1","article-title":"Cholesterol accumulation in NPC1-deficient neurons is ganglioside dependent","volume":"13","author":"Gondre-Lewis","year":"2003","journal-title":"Curr. Biol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib84","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1093\/hmg\/9.7.1087","article-title":"Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse","volume":"9","author":"Liu","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib85","doi-asserted-by":"crossref","first-page":"1816","DOI":"10.1194\/jlr.M800180-JLR200","article-title":"GM2\/GD2 and GM3 gangliosides have no effect on cellular cholesterol pools or turnover in normal or NPC1 mice","volume":"49","author":"Li","year":"2008","journal-title":"J Lipid Res."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib86","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1038\/15666","article-title":"Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transport","volume":"1","author":"Kobayashi","year":"1999","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib87","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1007\/BF02531203","article-title":"Accumulation of a glycerolphospholipid in classical Niemann-Pick disease","volume":"3","author":"Rouser","year":"1968","journal-title":"Lipids"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib88","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/BF00464615","article-title":"[An infantile-juvenile, subchronically progressive lipoidosis of the sphingomyelinoses (Niemann-Pick) form\u2013a new type? Clinical, pathohistological, electron microscopic and biochemical studies]","volume":"112","author":"Wiedemann","year":"1972","journal-title":"Z. Kinderheilkd."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib89","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1001\/archpedi.1977.02120220021002","article-title":"Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes","volume":"131","author":"Wenger","year":"1977","journal-title":"Am. J. Dis. Child"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib90","first-page":"49","article-title":"Drug-induced lysosomal storage disorders","volume":"Vol. 6","author":"L\u00fcllmann-Rauch","year":"1979"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib91","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1007\/BF02532899","article-title":"Low and moderate concentrations of lysobisphosphatidic acid in brain and liver of patients affected by some storage diseases","volume":"11","author":"Kahma","year":"1976","journal-title":"Lipids"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib92","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1046\/j.1471-4159.2003.01602.x","article-title":"Analysis of phospholipid molecular species in brains from patients with infantile and juvenile neuronal-ceroid lipofuscinosis using liquid chromatography-electrospray ionization mass spectrometry","volume":"84","author":"K\u00e4kel\u00e4","year":"2003","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib93","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1111\/j.1471-4159.1981.tb04477.x","article-title":"Chloroquine intoxication induces ganglioside storage in nervous tissue: a chemical and histopathological study of brain, spinal cord, dorsal root ganglia, and retinal in the miniature pig","volume":"37","author":"Klinghardt","year":"1981","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib94","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/00005792-195802000-00001","article-title":"Niemann-Pick disease: a review of eighteen patients","volume":"37","author":"Crocker","year":"1958","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib95","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/BF01800716","article-title":"Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture media","volume":"12","author":"Thomas","year":"1989","journal-title":"J. Inherit. Metab Dis."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib96","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1016\/0925-4439(91)90069-L","article-title":"Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing","volume":"1096","author":"Vanier","year":"1991","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib97","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1097\/00005072-196901000-00003","article-title":"Chemical pathology of GM1 gangliosidosis (Generalized gangliosidosis)","volume":"28","author":"Suzuki","year":"1969","journal-title":"J. Neuropath. Exp. Neurol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib98","series-title":"The Gangliosidoses","first-page":"125","author":"Adachi","year":"1975"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib99","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1126\/science.181.4097.352","article-title":"Mucopolysaccharidosis: secondarily induced abnormal distribution of lysosomal isoenzymes","volume":"181","author":"Kint","year":"1973","journal-title":"Science"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib100","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1042\/bj1520057","article-title":"Inhibition of leucocytic lysosomal enzymes by glycosaminoglycans in vitro","volume":"152","author":"Avila","year":"1975","journal-title":"Biochem. J."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib101","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/0304-4165(83)90225-8","article-title":"Decreased ganglioside neuraminidase activity in fibroblasts from mucopolysaccharidosis patients. Inhibition of the activity in vitro by sulfated glycosaminoglycans and other compounds","volume":"761","author":"Baumkotter","year":"1983","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib102","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/S0962-8924(00)01847-X","article-title":"Jamming the endosomal system: lipid rafts and lysosomal storage diseases","volume":"10","author":"Simons","year":"2000","journal-title":"Trends Cell Biol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib103","doi-asserted-by":"crossref","first-page":"e851","DOI":"10.1371\/journal.pone.0000851","article-title":"Late endosomal cholesterol accumulation leads to impaired intra-endosomal trafficking","volume":"2","author":"Sobo","year":"2007","journal-title":"PLoS. ONE"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib104","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1146\/annurev.cellbio.21.122303.120013","article-title":"Principles of lysosomal membrane digestion: stimulation of sphingolipid degradation by sphingolipid activator proteins and anionic lysosomal lipids","volume":"21","author":"Kolter","year":"2005","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib105","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.bbalip.2004.08.011","article-title":"Consequences of NPC1 and NPC2 loss of function in mammalian neurons","volume":"1685","author":"Walkley","year":"2004","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib106","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."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib107","doi-asserted-by":"crossref","DOI":"10.1074\/jbc.M801463200","article-title":"Lysobisphosphatidic acid controls endosomal cholesterol levels","author":"Chevallier","year":"2008","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib108","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1098\/rstb.2003.1276","article-title":"Neurobiology and cellular pathogenesis of glycolipid storage diseases","volume":"358","author":"Walkley","year":"2003","journal-title":"Philos. Trans. R. Soc. Lond B Biol. Sci."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib109","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/nm1073","article-title":"Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone","volume":"10","author":"Griffin","year":"2004","journal-title":"Nat. Med."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib110","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1016\/j.cell.2006.02.025","article-title":"Endocytosis conducts the cell signaling orchestra","volume":"124","author":"Polo","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib111","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1002\/dneu.20513","article-title":"Endosomal transport of neurotrophins: roles in signaling and neurodegenerative diseases","volume":"67","author":"Bronfman","year":"2007","journal-title":"Dev. Neurobiol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib112","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1093\/cercor\/10.10.963","article-title":"Cellular and molecular mechanisms of dendrite growth","volume":"10","author":"McAllister","year":"2000","journal-title":"Cereb. Cortex"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib113","doi-asserted-by":"crossref","first-page":"20179","DOI":"10.1074\/jbc.M001793200","article-title":"Embryonic striatal neurons from Niemann-Pick type C mice exhibit defects in cholesterol metabolism and neurotrophin responsiveness","volume":"275","author":"Henderson","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib114","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/S0959-4388(02)00329-X","article-title":"Receptor trafficking and the plasticity of excitatory synapses","volume":"12","author":"Barry","year":"2002","journal-title":"Curr. Opin. Neurobiol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib115","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1016\/S0896-6273(03)00640-8","article-title":"AMPA receptor trafficking at excitatory synapses","volume":"40","author":"Bredt","year":"2003","journal-title":"Neuron"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib116","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1016\/j.neuron.2007.06.001","article-title":"The role of the GluR2 subunit in AMPA receptor function and synaptic plasticity","volume":"54","author":"Isaac","year":"2007","journal-title":"Neuron"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib117","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1038\/nature01781","article-title":"Induction of dendritic spines by an extracellular domain of AMPA receptor subunit GluR2","volume":"424","author":"Passafaro","year":"2003","journal-title":"Nature"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib118","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1038\/sj.cdd.4401834","article-title":"Gangliosides as apoptotic signals in ER stress response","volume":"13","author":"d'Azzo","year":"2006","journal-title":"Cell Death. Differ."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib119","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.semcdb.2004.03.003","article-title":"The pathogenesis of glycosphingolipid storage disorders","volume":"15","author":"Ginzburg","year":"2004","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib120","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1126\/science.3101176","article-title":"Lysosphingolipids inhibit protein kinase C: implications for the sphingolipidoses","volume":"235","author":"Hannun","year":"1987","journal-title":"Science"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib121","doi-asserted-by":"crossref","unstructured":"M. Walter, F.W. Chen, F. Tamari, R. Wang, Y.A. Ioannou, Endosomal lipid accumulation in NPC1 leads to inhibition of PKC, hypophosphorylation of vimentin and Rab9 entrapment, Biol. Cell. in press.","DOI":"10.1042\/BC20070171"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib122","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.bbamcr.2008.11.014_bib123","series-title":"Lysosomal Disorders of the Brain","first-page":"290","article-title":"Pathogenic cascades and brain dysfunction","author":"Walkley","year":"2004"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib124","doi-asserted-by":"crossref","first-page":"10865","DOI":"10.1021\/bi00501a001","article-title":"Metabolism and intracellular transport of glycosphingolipids","volume":"29","author":"Schwarzmann","year":"1990","journal-title":"Biochemistry"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib125","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0300-9084(03)00047-6","article-title":"Salvage pathways in glycosphingolipid metabolism","volume":"85","author":"Tettamanti","year":"2003","journal-title":"Biochimie"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib126","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1038\/nature04724","article-title":"Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice","volume":"441","author":"Hara","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib127","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/nature04723","article-title":"Loss of autophagy in the central nervous system causes neurodegeneration in mice","volume":"441","author":"Komatsu","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib128","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.tcb.2003.12.002","article-title":"Autophagy: in sickness and in health","volume":"14","author":"Cuervo","year":"2004","journal-title":"Trends Cell Biol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib129","doi-asserted-by":"crossref","first-page":"487","DOI":"10.4161\/auto.4586","article-title":"Lipid trafficking defects increase Beclin-1 and activate autophagy in Niemann-Pick type C disease","volume":"3","author":"Pacheco","year":"2007","journal-title":"Autophagy"},{"key":"10.1016\/j.bbamcr.2008.11.014_bib130","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1093\/hmg\/ddm100","article-title":"Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects","volume":"16","author":"Pacheco","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib131","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1093\/hmg\/ddm289","article-title":"A block of autophagy in lysosomal storage disorders","volume":"17","author":"Settembre","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib132","doi-asserted-by":"crossref","first-page":"20483","DOI":"10.1074\/jbc.M602180200","article-title":"Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis","volume":"281","author":"Cao","year":"2006","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib133","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/ana.20150","article-title":"Prevention of neuropathology in the mouse model of Hurler syndrome","volume":"56","author":"Desmaris","year":"2004","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib134","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1002\/ana.20870","article-title":"Gene therapy of the brain in the dog model of Hurler's syndrome","volume":"60","author":"Ciron","year":"2006","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib135","doi-asserted-by":"crossref","first-page":"10229","DOI":"10.1523\/JNEUROSCI.3558-04.2004","article-title":"Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum","volume":"24","author":"Cressant","year":"2004","journal-title":"J. Neurosci."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib136","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1006\/mthe.2001.0274","article-title":"Intracranial injection of recombinant adeno-associated virus improves cognitive function in a murine model of mucopolysaccharidosis type VII","volume":"3","author":"Frisella","year":"2001","journal-title":"Mol. Ther."},{"key":"10.1016\/j.bbamcr.2008.11.014_bib137","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1042\/BJ20071043","article-title":"Effect of lysosomal storage on bis(monoacylglycero)phosphate","volume":"411","author":"Meikle","year":"2008","journal-title":"Biochem. J."}],"container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Cell Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0167488908004163?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0167488908004163?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,9,27]],"date-time":"2021-09-27T11:21:58Z","timestamp":1632741718000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0167488908004163"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,4]]},"references-count":137,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["S0167488908004163"],"URL":"https:\/\/doi.org\/10.1016\/j.bbamcr.2008.11.014","relation":{},"ISSN":["0167-4889"],"issn-type":[{"value":"0167-4889","type":"print"}],"subject":[],"published":{"date-parts":[[2009,4]]}}}