{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T03:19:46Z","timestamp":1791083986808,"version":"4.1.0"},"reference-count":103,"publisher":"Elsevier BV","issue":"1-3","license":[{"start":{"date-parts":[[2004,10,1]],"date-time":"2004-10-01T00:00:00Z","timestamp":1096588800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids"],"published-print":{"date-parts":[[2004,10]]},"DOI":"10.1016\/j.bbalip.2004.08.011","type":"journal-article","created":{"date-parts":[[2004,9,14]],"date-time":"2004-09-14T18:45:53Z","timestamp":1095187553000},"page":"48-62","source":"Crossref","is-referenced-by-count":231,"title":["Consequences of NPC1 and NPC2 loss of function in mammalian neurons"],"prefix":"10.1016","volume":"1685","author":[{"given":"Steven U.","family":"Walkley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kinuko","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbalip.2004.08.011_bib1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/00005792-195802000-00001","article-title":"Niemann\u2013Pick disease: a review of eighteen patients","volume":"37","author":"Crocker","year":"1957","journal-title":"Medicine"},{"key":"10.1016\/j.bbalip.2004.08.011_bib2","series-title":"The Metabolic and Molecular Basis of Inherited Disease","first-page":"3611","article-title":"Niemann\u2013Pick Disease type C: a lipid trafficking disorder: Part 16. Lysosomal disorders","author":"Patterson","year":"2001"},{"key":"10.1016\/j.bbalip.2004.08.011_bib3","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1016\/S0016-5085(65)80041-5","article-title":"Progress in gastroenterology: inborn lysosomal diseases","volume":"48","author":"Hers","year":"1965","journal-title":"Gastroenterology"},{"key":"10.1016\/j.bbalip.2004.08.011_bib4","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\u2013Pick disease","volume":"55","author":"Brady","year":"1966","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbalip.2004.08.011_bib5","series-title":"The Metabolic and Molecular Basis of Inherited Disease","first-page":"2625","article-title":"Niemann\u2013Pick disease type C: a cellular cholesterol lipidosis","author":"Pentchev","year":"1995"},{"key":"10.1016\/j.bbalip.2004.08.011_bib6","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1126\/science.277.5323.228","article-title":"Niemann\u2013Pick C1 disease gene: homology to mediators of cholesterol homeostasis","volume":"277","author":"Carstea","year":"1997","journal-title":"Science"},{"key":"10.1016\/j.bbalip.2004.08.011_bib7","doi-asserted-by":"crossref","first-page":"2295","DOI":"10.1126\/science.290.5500.2295","article-title":"Transmembrane molecular pump activity of Niemann\u2013Pick C1 protein","volume":"290","author":"Davies","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.bbalip.2004.08.011_bib8","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1083\/jcb.200310046","article-title":"Mutagenesis of the putative sterol-sensing domain of yeast Niemann\u2013Pick C-related protein reveals a primordial role in subcellular sphingolipid distribution","volume":"164","author":"Malathi","year":"2004","journal-title":"J. Cell Biol."},{"issue":"2003","key":"10.1016\/j.bbalip.2004.08.011_bib9","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":"Gondr\u00e9-Lewis","year":"2003","journal-title":"Curr. Biol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib10","doi-asserted-by":"crossref","first-page":"2298","DOI":"10.1126\/science.290.5500.2298","article-title":"Identification of HE1 as the second gene of Niemann\u2013Pick C disease","volume":"290","author":"Naureckiene","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.bbalip.2004.08.011_bib11","doi-asserted-by":"crossref","first-page":"2512","DOI":"10.1073\/pnas.0437840100","article-title":"Structure of a cholesterol-binding protein deficient in Niemann\u2013Pick type C2 disease","volume":"100","author":"Friedland","year":"2003","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbalip.2004.08.011_bib12","doi-asserted-by":"crossref","first-page":"5886","DOI":"10.1073\/pnas.0308456101","article-title":"Genetic evidence for non-redundant functional co-operativity 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.bbalip.2004.08.011_bib13","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1007\/BF00334507","article-title":"Feline sphingolipidosis resembling Niemann\u2013Pick disease type C","volume":"81","author":"Lowenthal","year":"1990","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib14","first-page":"140","article-title":"Lysosome lipid storage disorder in NCTR-BALB\/c mice. I. Description of the disease and genetics","volume":"108","author":"Morris","year":"1982","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib15","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1093\/oxfordjournals.jhered.a110265","article-title":"A mouse model for Niemann\u2013Pick disease","volume":"77","author":"Miyataki","year":"1986","journal-title":"J. Heredity"},{"key":"10.1016\/j.bbalip.2004.08.011_bib16","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/S0960-9822(00)00468-1","article-title":"A model for Niemann\u2013Pick type C disease in the nematode Caenorhabditis elegans","volume":"10","author":"Sym","year":"2000","journal-title":"Curr. Biol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib17","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1212\/WNL.39.8.1040","article-title":"Clinical spectrum of Niemann\u2013Pick disease type C","volume":"39","author":"Fink","year":"1989","journal-title":"Neurology"},{"key":"10.1016\/j.bbalip.2004.08.011_bib18","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1034\/j.1399-0004.2003.00147.x","article-title":"Niemann\u2013Pick disease type C","volume":"64","author":"Vanier","year":"2003","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bbalip.2004.08.011_bib19","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1086\/320606","article-title":"Niemann\u2013Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop","volume":"68","author":"Millat","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbalip.2004.08.011_bib20","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1002\/ana.10366","article-title":"Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1\/NPC2","volume":"52","author":"Klunemann","year":"2002","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib21","series-title":"Greenfield's Neuropathology","first-page":"666","article-title":"Lysosomal disease","author":"Suzuki","year":"2002"},{"key":"10.1016\/j.bbalip.2004.08.011_bib22","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1023\/A:1022575511354","article-title":"Lipid changes in Niemann\u2013Pick 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.bbalip.2004.08.011_bib23","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1093\/jnen\/60.1.49","article-title":"Neurons in Niemann\u2013Pick 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.bbalip.2004.08.011_bib24","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1097\/00005072-196301000-00003","article-title":"Studies in Tay\u2013Sachs disease: II. Ultrastructure of the cerebrum","volume":"22","author":"Terry","year":"1963","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib25","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 diseases","volume":"116","author":"Purpura","year":"1976","journal-title":"Brain Res."},{"key":"10.1016\/j.bbalip.2004.08.011_bib26","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/BF00688395","article-title":"GM2 gangliosidosis, AB variant. Clinico-pathological study of a case","volume":"33","author":"de Baecque","year":"1975","journal-title":"Acta Neuropathol. (Berl)"},{"key":"10.1016\/j.bbalip.2004.08.011_bib27","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/0962-8924(96)80999-8","article-title":"T Topology of glycosphingolipid degradation","volume":"6","author":"Sandhoff","year":"1996","journal-title":"Trends Cell Biol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib28","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1097\/00005072-198311000-00007","article-title":"Isocortical pathology in type C Niemann\u2013Pick disease. A combined Golgi-Pigmentarchitectonic study","volume":"42","author":"Braak","year":"1983","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib29","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1007\/s004010050689","article-title":"GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann\u2013Pick disease type C","volume":"94","author":"March","year":"1997","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib30","series-title":"Gangliosides in Neurological and Neuromuscular Function, Development and Repair","first-page":"1","article-title":"Aberrant neurite and spine generation in mature neurons in the gangliosidoses","author":"Purpura","year":"1981"},{"key":"10.1016\/j.bbalip.2004.08.011_bib31","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.bbalip.2004.08.011_bib32","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1007\/BF00690966","article-title":"Niemann\u2013Pick 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.bbalip.2004.08.011_bib33","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1097\/00005072-196707000-00001","article-title":"A comparative electron microscopic study of reactive, degenerating, regenerating and dystrophic axons","volume":"26","author":"Lampert","year":"1967","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib34","series-title":"Greenfield's Neuropathology","first-page":"134","article-title":"Cellular pathology of the central nervous system","author":"Graeber","year":"2002"},{"key":"10.1016\/j.bbalip.2004.08.011_bib35","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/BF00309338","article-title":"Neurofibrillary tangles in Niemann\u2013Pick disease type C","volume":"89","author":"Suzuki","year":"1995","journal-title":"Acta Neuropathol. (Berl.)"},{"key":"10.1016\/j.bbalip.2004.08.011_bib36","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1093\/brain\/118.1.119","article-title":"Neurofibrillary tangles in Niemann\u2013Pick disease type C","volume":"118","author":"Love","year":"1995","journal-title":"Brain"},{"key":"10.1016\/j.bbalip.2004.08.011_bib37","first-page":"306","article-title":"Niemann\u2013Pick disease type C: neuropathology revisited","volume":"10","author":"Suzuki","year":"1997","journal-title":"Dev. Brain Dysfunct."},{"key":"10.1016\/j.bbalip.2004.08.011_bib38","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1007\/BF00318566","article-title":"Paired helical filament tau (PHFtau) in Niemann\u2013Pick type C disease is similar to PHFtau in Alzheimer's disease","volume":"90","author":"Auer","year":"1995","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib39","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1007\/s004010000314","article-title":"Tangle-bearing neurons contain more free cholesterol than adjacent tangle-free neurons","volume":"101","author":"Dist","year":"2001","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib40","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/ana.10266","article-title":"Niemann\u2013Pick type C disease: accelerated neurofibrillary tangle formation and amyloid \u03b2 deposition associated with apolipoprotein E \u025b4 homozygosity","volume":"52","author":"Saito","year":"2002","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib41","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1016\/S0002-9440(10)65722-7","article-title":"Lewy bodies contain altered \u03b1 synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes","volume":"153","author":"Lippa","year":"1998","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib42","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1111\/j.1750-3639.2000.tb00269.x","article-title":"Lewy bodies in Alzheimer's disease: a neuropathological review of 145 cases using \u03b1-synuclein immunohistochemistry","volume":"10","author":"Hamilton","year":"2000","journal-title":"Brain Pathol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib43","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1007\/s00401-003-0670-9","article-title":"Lewy body pathology is a frequent co-pathology in familial Alzheimer's disease","volume":"105","author":"Trembath","year":"2003","journal-title":"Acta Neuropathol. (Berl.)"},{"key":"10.1016\/j.bbalip.2004.08.011_bib44","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/S0022-510X(00)00337-3","article-title":"Widespread expression of \u03b1-synuclein and tau immunoreactivity in Hallervorden\u2013Spatz syndrome with protracted clinical course","volume":"177","author":"Saito","year":"2000","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.bbalip.2004.08.011_bib45","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1093\/jnen\/63.4.323","article-title":"S. Murayama. Aberrant phosphorylation of \u03b1-synuclein in human Niemann\u2013Pick type C1 disease","volume":"63","author":"Sato","year":"2004","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib46","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1093\/jnen\/62.4.389","article-title":"Colocalization of tau and alpha-synuclein epitopes in Lewy bodies","volume":"62","author":"Ishizawa","year":"2003","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib47","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1006\/nbdi.2002.0551","article-title":"Niemann\u2013Pick disease type C yields possible clue for why cerebellar neurons do not form neurofibrillary tangles","volume":"11","author":"Bu","year":"2002","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.bbalip.2004.08.011_bib48","first-page":"731","article-title":"Fragmentation of the Golgi apparatus of motor neurons in amyotrophic lateral sclerosis","volume":"140","author":"Gonatas","year":"1992","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib49","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1002\/ana.410330609","article-title":"The Golgi apparatus of motor neurons in amyotrophic lateral sclerosis","volume":"33","author":"Mourelatos","year":"1993","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib50","series-title":"The Golgi apparatus","first-page":"247","article-title":"The Golgi apparatus in disease","author":"Gonatas","year":"1997"},{"key":"10.1016\/j.bbalip.2004.08.011_bib51","first-page":"415","article-title":"In Alzheimer's disease the Golgi apparatus of a population of neurons without neurofibrillary tangles is fragmented and atrophic","volume":"148","author":"Stieber","year":"1996","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib52","doi-asserted-by":"crossref","first-page":"5472","DOI":"10.1073\/pnas.93.11.5472","article-title":"The Golgi apparatus of spinal cord motor neurons in transgenic mice expressing mutant Cu, Zn superoxide dismutase becomes fragmented in early, preclinical stages of the disease","volume":"93","author":"Mourelatos","year":"1996","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbalip.2004.08.011_bib53","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1091\/mbc.9.1.191","article-title":"Scattered Golgi elements during microtubule disruption are initially enriched in trans-Golgi proteins","volume":"9","author":"Yang","year":"1998","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.bbalip.2004.08.011_bib54","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1083\/jcb.149.2.331","article-title":"A specific activation of the mitogen-activated protein kinase kinase 1 (MEK 1) is required for Golgi fragmentation during mitosis","volume":"149","author":"Colanzi","year":"2000","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib55","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1083\/jcb.149.2.243","article-title":"W(h)ither the Golgi during mitosis?","volume":"149","author":"Nelson","year":"2000","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib56","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1006\/mgme.1998.2778","article-title":"Complementation studies in human and feline Niemann\u2013Pick type C disease","volume":"66","author":"Somers","year":"1999","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbalip.2004.08.011_bib57","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1111\/j.1939-1676.1994.tb03208.x","article-title":"Neurological manifestations of Niemann\u2013Pick disease type C in cats","volume":"8","author":"Mu\u00f1ana","year":"1994","journal-title":"J. Vet. Intern. Med."},{"key":"10.1016\/j.bbalip.2004.08.011_bib58","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1111\/j.1750-3639.1998.tb00144.x","article-title":"Cellular pathology of lysosomal storage disorders","volume":"8","author":"Walkley","year":"1998","journal-title":"Brain Pathol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib59","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/0006-8993(86)91348-X","article-title":"Ferric ion-ferrocyanide staining in ganglioside storage disease establishes that meganeurites are of axon hillock origin and distinct from axonal spheroids","volume":"382","author":"Walkley","year":"1986","journal-title":"Brain Res."},{"key":"10.1016\/j.bbalip.2004.08.011_bib60","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/mrdd.1410010306","article-title":"Alterations in synaptic connectivity in cerebral cortex in neuronal storage diseases","volume":"1","author":"Walkley","year":"1995","journal-title":"Ment. Retard. Dev. Disabil. Res. Rev."},{"key":"10.1016\/j.bbalip.2004.08.011_bib61","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.bbalip.2004.08.011_bib62","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1093\/cercor\/10.10.1028","article-title":"Gangliosides as modulators of dendritogenesis in storage disease-affected and normal pyramidal neurons","volume":"10","author":"Walkley","year":"2000","journal-title":"Cereb. Cortex"},{"key":"10.1016\/j.bbalip.2004.08.011_bib63","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":"Trans. Royal Soc. B"},{"key":"10.1016\/j.bbalip.2004.08.011_bib64","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/j.semcdb.2004.03.002","article-title":"Secondary increases in ganglioside expression in lysosomal disorders","volume":"15","author":"Walkley","year":"2004","journal-title":"Seminars in Cell and Developmental Biology"},{"key":"10.1016\/j.bbalip.2004.08.011_bib65","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0022-510X(91)90208-O","article-title":"Neuroaxonal dystrophy in neuronal storage disorders: Evidence for major GABAergic neuron involvement","volume":"104","author":"Walkley","year":"1991","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.bbalip.2004.08.011_bib66","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1083\/jcb.119.1.123","article-title":"Axonal and dendritic endocytic pathways in cultured neurons","volume":"119","author":"Parton","year":"1992","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib67","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/0165-3806(90)90273-2","article-title":"Initiation and growth of ectopic neurites and meganeurites during postnatal brain development in ganglioside storage disease","volume":"51","author":"Walkley","year":"1990","journal-title":"Dev. Brain Res."},{"key":"10.1016\/j.bbalip.2004.08.011_bib68","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/S0006-8993(87)80025-2","article-title":"Ectopic axon hillock-associated neurite growth is maintained in metabolically-reversed swainsonine-induced neuronal storage disease","volume":"410","author":"Walkley","year":"1987","journal-title":"Brain Res."},{"key":"10.1016\/j.bbalip.2004.08.011_bib69","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1126\/science.277.5323.232","article-title":"Murine model of Niemann\u2013Pick C disease: mutation in a cholesterol homeostasis gene","volume":"277","author":"Loftus","year":"1997","journal-title":"Science"},{"key":"10.1016\/j.bbalip.2004.08.011_bib70","first-page":"318","article-title":"A possible same genetic defect in two Niemann\u2013Pick disease model mice","volume":"26","author":"Yamamoto","year":"1994","journal-title":"No To Hattatsu"},{"key":"10.1016\/j.bbalip.2004.08.011_bib71","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1007\/BF00687215","article-title":"Dysmyelination in NCTR-Balb\/C mouse mutant with a lysosomal storage disorder. Morphological survey","volume":"74","author":"Weintraub","year":"1987","journal-title":"Acta Neuropathol. (Berl.)"},{"key":"10.1016\/j.bbalip.2004.08.011_bib72","series-title":"Neuropathology in Brain Research","first-page":"85","article-title":"Pathology of Niemann\u2013Pick type C: studies of murine mutant","author":"Higashi","year":"1991"},{"key":"10.1016\/j.bbalip.2004.08.011_bib73","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1111\/j.1471-4159.1985.tb04044.x","article-title":"Neurological mutation characterized by dysmyelination in NCTR-Balb\/C mouse with lysosomal lipid storage diseases","volume":"45","author":"Weintraub","year":"1985","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbalip.2004.08.011_bib74","article-title":"Glycosphingolipid-cholesterol abnormalities in NPC2-deficient neurons appears equivalent to those occurring in neurons lacking NPC1, suggesting NPC1\u2013NPC2 molecular cooperation","volume":"537.15","author":"Litrenta","year":"2003","journal-title":"Abstr.-Soc. Neurosci."},{"key":"10.1016\/j.bbalip.2004.08.011_bib75","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1097\/00005072-198805000-00008","article-title":"Cerebellar involvement in mouse sphingomyelinosis: a new model of Niemann\u2013Pick disease","volume":"47","author":"Tanaka","year":"1988","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib76","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/BF00227765","article-title":"Cerebellar degeneration in the Niemann\u2013Pick type C mouse","volume":"85","author":"Higashi","year":"1993","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib77","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/S0306-4522(01)00517-6","article-title":"Degeneration of neurons and glia in the Niemann\u2013Pick C mouse is unrelated to the low-density lipoprotein receptor","volume":"109","author":"German","year":"2002","journal-title":"Neuroscience"},{"key":"10.1016\/j.bbalip.2004.08.011_bib78","first-page":"150","article-title":"Lysosomal lipid storage disorder in NCTR-BALB\/c mice: II. Morphologic and cytochemical studies","volume":"108","author":"Shio","year":"1982","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.bbalip.2004.08.011_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 it decreased in distal axons of Niemann\u2013Pick C1 deficient neurons","volume":"83","author":"Karten","year":"2002","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbalip.2004.08.011_bib80","doi-asserted-by":"crossref","first-page":"20179","DOI":"10.1074\/jbc.M001793200","article-title":"Embryonic striatal neurons from Niemann\u2013Pick 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.bbalip.2004.08.011_bib81","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/path.1345","article-title":"Spatial and temporal distribution of intracellular free cholesterol in brains of Niemann\u2013Pick type C mouse model showing hyperphosphorylated tau protein. Implications for Alzheimer's disease","volume":"200","author":"Treiber-Held","year":"2003","journal-title":"J. Pathol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib82","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\u2013Pick type C1 mouse brain","volume":"45","author":"Reid","year":"2004","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.bbalip.2004.08.011_bib83","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/35036052","article-title":"Lipid rafts and signal transduction","volume":"1","author":"Simons","year":"2000","journal-title":"Nat. Rev."},{"key":"10.1016\/j.bbalip.2004.08.011_bib84","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.bbalip.2004.08.011_bib85","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1034\/j.1600-0854.2000.011101.x","article-title":"Membrane traffic in sphingolipid storage diseases","volume":"1","author":"Pagano","year":"2000","journal-title":"Traffic"},{"key":"10.1016\/j.bbalip.2004.08.011_bib86","doi-asserted-by":"crossref","first-page":"6515","DOI":"10.1523\/JNEUROSCI.22-15-06515.2002","article-title":"Deregulation of cdk5, hyperphosphorylation, and cytoskeletal pathology in Niemann\u2013Pick type C mutant model","volume":"22","author":"Bu","year":"2002","journal-title":"J. Neurosci."},{"key":"10.1016\/j.bbalip.2004.08.011_bib87","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1046\/j.1471-4159.2001.00063.x","article-title":"Cholesterol-dependent modulation of tau phosphorylation in cultured neurons","volume":"76","author":"Fan","year":"2001","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bbalip.2004.08.011_bib88","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/ana.410090316","article-title":"Evidence for a \u201cDying Back\u201d gliopathy in demyelinating disease","volume":"9","author":"Ludwin","year":"1981","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib89","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1016\/S0025-6196(12)60597-7","article-title":"Oligodendrocyte injury is an early event in lesions of multiple sclerosis","volume":"68","author":"Rodriguez","year":"1993","journal-title":"Mayo Clin. Proc."},{"key":"10.1016\/j.bbalip.2004.08.011_bib90","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/cne.1149","article-title":"Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemann\u2013Pick C disease","volume":"7","author":"German","year":"2001","journal-title":"J. Comp. Neurol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib91","doi-asserted-by":"crossref","first-page":"10314","DOI":"10.1074\/jbc.M009733200","article-title":"Site-specific phosphorylation of tau accompanied by activation of mitogen-activated protein kinase (MAPK) in brains of Niemann\u2013Pick type C mice","volume":"276","author":"Sawamura","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbalip.2004.08.011_bib92","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/S0387-7604(01)00209-1","article-title":"Progressive neuronal loss in the ventral posterior lateral and medial nuclei of thalamus in Niemann\u2013Pick disease type C mouse brain","volume":"5","author":"Yamada","year":"2001","journal-title":"Brain Dev."},{"key":"10.1016\/j.bbalip.2004.08.011_bib93","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1212\/WNL.43.1_Part_1.61","article-title":"The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann\u2013Pick disease type C","volume":"43","author":"Patterson","year":"1993","journal-title":"Neurology"},{"key":"10.1016\/j.bbalip.2004.08.011_bib94","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1023\/A:1005650930330","article-title":"Pharmacological and genetic modification of somatic cholesterol does not substantially alter the course of CNS disease in Niemann\u2013Pick C mice","volume":"23","author":"Erickson","year":"2000","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbalip.2004.08.011_bib95","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1016\/S0960-9822(01)00396-7","article-title":"Critical role for glycosphingolipids in Niemann\u2013Pick disease type C","volume":"11","author":"Zervas","year":"2001","journal-title":"Curr. Biol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib96","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\u2013Pick C disease mouse","volume":"12","author":"Liu","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbalip.2004.08.011_bib97","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1093\/jnen\/59.12.1106","article-title":"Cholesterol is sequestered in the brains of mice with Niemann\u2013Pick type C disease but turnover is increased","volume":"59","author":"Xie","year":"2000","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib98","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1002\/jnr.10257","article-title":"Studies on neuronal death in the mouse model of Niemann\u2013Pick C disease","volume":"68","author":"Erickson","year":"2002","journal-title":"J. Neurosci. Res."},{"key":"10.1016\/j.bbalip.2004.08.011_bib99","doi-asserted-by":"crossref","first-page":"3107","DOI":"10.1093\/hmg\/11.24.3107","article-title":"Rescue of neurodegeneration in Niemann\u2013Pick-C mice by a prion-promoter Npc1 cDNA transgene","volume":"11","author":"Loftus","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbalip.2004.08.011_bib100","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/cne.10522","article-title":"Patterned Purkinje cell degeneration in mouse models of Niemann\u2013Pick type C disease","volume":"456","author":"Sarna","year":"2003","journal-title":"J. Comp. Neurol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib101","first-page":"554","article-title":"Fas-L expression of activated microglia in NPC mouse brain","volume":"62","author":"Takikita","year":"2003","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.bbalip.2004.08.011_bib102","doi-asserted-by":"crossref","first-page":"14871","DOI":"10.1073\/pnas.96.26.14871","article-title":"Activation of Fas by FasL induces apoptosis by a mechanism that cannot be blocked by Bcl-2 or Bcl-xL","volume":"96","author":"Huang","year":"1999","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.bbalip.2004.08.011_bib103","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1007\/s002210100870","article-title":"Neurodegeneration in Niemann\u2013Pick type C disease mice","volume":"141","author":"Ong","year":"2001","journal-title":"Exp. Brain Res."}],"container-title":["Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1388198104001349?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1388198104001349?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,4,3]],"date-time":"2020-04-03T00:37:10Z","timestamp":1585874230000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1388198104001349"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,10]]},"references-count":103,"journal-issue":{"issue":"1-3","published-print":{"date-parts":[[2004,10]]}},"alternative-id":["S1388198104001349"],"URL":"https:\/\/doi.org\/10.1016\/j.bbalip.2004.08.011","relation":{},"ISSN":["1388-1981"],"issn-type":[{"value":"1388-1981","type":"print"}],"subject":[],"published":{"date-parts":[[2004,10]]}}}