메뉴 건너뛰기




Volumn 38, Issue 1, 2015, Pages 187-199

Complex lipid trafficking in Niemann-Pick disease type C

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; CYCLODEXTRIN; LIPID; SPHINGOLIPID; SPHINGOMYELIN; STEROL;

EID: 84922104308     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9794-4     Document Type: Article
Times cited : (217)

References (97)
  • 1
    • 84922105747 scopus 로고    scopus 로고
    • Oxysterols in Niemann-Pick type C: limitations of sensitivity and specificity
    • abstract
    • Amraoui Y, Mengel E, Hennermann JB (2014) Oxysterols in Niemann-Pick type C: limitations of sensitivity and specificity. J Inherit Metab Dis 37(suppl):S150, abstract
    • (2014) J Inherit Metab Dis , vol.37 , pp. S150
    • Amraoui, Y.1    Mengel, E.2    Hennermann, J.B.3
  • 2
    • 79959654327 scopus 로고    scopus 로고
    • Unesterified cholesterol accumulation in late endosomes/lysosomes causes neurodegeneration and is prevented by driving cholesterol export from this compartment
    • COI: 1:CAS:528:DC%2BC3MXos1yis7w%3D, PID: 21697390
    • Aqul A, Liu B, Ramirez CM et al (2011) Unesterified cholesterol accumulation in late endosomes/lysosomes causes neurodegeneration and is prevented by driving cholesterol export from this compartment. J Neurosci 31:9404–9413
    • (2011) J Neurosci , vol.31 , pp. 9404-9413
    • Aqul, A.1    Liu, B.2    Ramirez, C.M.3
  • 3
    • 84874005716 scopus 로고    scopus 로고
    • A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin
    • PID: 23433359
    • Bergamin N, Dardis A, Beltrami A et al (2013) A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin. Orphanet J Rare Dis 8:34
    • (2013) Orphanet J Rare Dis , vol.8 , pp. 34
    • Bergamin, N.1    Dardis, A.2    Beltrami, A.3
  • 4
    • 84901660410 scopus 로고    scopus 로고
    • On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO
    • PID: 24771866
    • Björkhem I, Diczfalusy U, Lövgren-Sandblom A et al (2014) On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO. J Lipid Res 55:1165–1172
    • (2014) J Lipid Res , vol.55 , pp. 1165-1172
    • Björkhem, I.1    Diczfalusy, U.2    Lövgren-Sandblom, A.3
  • 5
    • 84865191217 scopus 로고    scopus 로고
    • Tracking sphingosine metabolism and transport in sphingolipidoses: NPC1 deficiency as a test case
    • COI: 1:CAS:528:DC%2BC38XhtlOmtLjM, PID: 22607065
    • Blom T, Li Z, Bittman R, Somerharju P, Ikonen E (2012) Tracking sphingosine metabolism and transport in sphingolipidoses: NPC1 deficiency as a test case. Traffic 13:1234–1243
    • (2012) Traffic , vol.13 , pp. 1234-1243
    • Blom, T.1    Li, Z.2    Bittman, R.3    Somerharju, P.4    Ikonen, E.5
  • 6
    • 84905216184 scopus 로고    scopus 로고
    • A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease
    • COI: 1:CAS:528:DC%2BC2cXht1KgsL%2FF, PID: 25038260
    • Boenzi S, Deodato F, Taurisano R et al (2014) A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease. Clin Chim Acta 437:93–100
    • (2014) Clin Chim Acta , vol.437 , pp. 93-100
    • Boenzi, S.1    Deodato, F.2    Taurisano, R.3
  • 7
    • 0030863352 scopus 로고    scopus 로고
    • Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis
    • COI: 1:CAS:528:DyaK2sXksFClu7Y%3D, PID: 9211849
    • Carstea ED, Morris JA, Coleman KG et al (1997) Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 277:228–231
    • (1997) Science , vol.277 , pp. 228-231
    • Carstea, E.D.1    Morris, J.A.2    Coleman, K.G.3
  • 8
    • 55549146120 scopus 로고    scopus 로고
    • Lysobisphosphatidic acid controls endosomal cholesterol levels
    • COI: 1:CAS:528:DC%2BD1cXhtF2hsLfI, PID: 18644787
    • Chevallier J, Chamoun Z, Jiang G et al (2008) Lysobisphosphatidic acid controls endosomal cholesterol levels. J Biol Chem 283:27871–27880
    • (2008) J Biol Chem , vol.283 , pp. 27871-27880
    • Chevallier, J.1    Chamoun, Z.2    Jiang, G.3
  • 9
    • 4644263342 scopus 로고    scopus 로고
    • Elevated endosomal cholesterol levels in Niemann-Pick cells inhibit rab4 and perturb membrane recycling
    • COI: 1:CAS:528:DC%2BD2cXosVOit7s%3D, PID: 15292453
    • Choudhury A, Sharma DK, Marks DL, Pagano RE (2004) Elevated endosomal cholesterol levels in Niemann-Pick cells inhibit rab4 and perturb membrane recycling. Mol Biol Cell 15:4500–4511
    • (2004) Mol Biol Cell , vol.15 , pp. 4500-4511
    • Choudhury, A.1    Sharma, D.K.2    Marks, D.L.3    Pagano, R.E.4
  • 10
    • 70349190528 scopus 로고    scopus 로고
    • Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression
    • PID: 19750228
    • Davidson CD, Ali NF, Micsenyi MC et al (2009) Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS One 4:e6951
    • (2009) PLoS One , vol.4 , pp. e6951
    • Davidson, C.D.1    Ali, N.F.2    Micsenyi, M.C.3
  • 11
    • 82755197370 scopus 로고    scopus 로고
    • Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding
    • COI: 1:CAS:528:DC%2BC3MXhs1Wkt7zI, PID: 22065762
    • Deffieu MS, Pfeffer SR (2011) Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding. Proc Natl Acad Sci U S A 108:18932–18936
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 18932-18936
    • Deffieu, M.S.1    Pfeffer, S.R.2
  • 12
    • 77953142003 scopus 로고    scopus 로고
    • Improvement in lipid and protein trafficking in Niemann-Pick C1 cells by correction of a secondary enzyme defect
    • COI: 1:CAS:528:DC%2BC3cXlt1Kis7w%3D, PID: 20412078
    • Devlin C, Pipalia NH, Liao X, Schuchman EH, Maxfield FR, Tabas I (2010) Improvement in lipid and protein trafficking in Niemann-Pick C1 cells by correction of a secondary enzyme defect. Traffic 11:601–615
    • (2010) Traffic , vol.11 , pp. 601-615
    • Devlin, C.1    Pipalia, N.H.2    Liao, X.3    Schuchman, E.H.4    Maxfield, F.R.5    Tabas, I.6
  • 13
    • 84873678370 scopus 로고    scopus 로고
    • Autophagic dysfunction in a lysosomal storage disorder due to impaired proteolysis
    • COI: 1:CAS:528:DC%2BC3sXjvFWmurY%3D, PID: 23086309
    • Elrick MJ, Lieberman AP (2013) Autophagic dysfunction in a lysosomal storage disorder due to impaired proteolysis. Autophagy 9:234–235
    • (2013) Autophagy , vol.9 , pp. 234-235
    • Elrick, M.J.1    Lieberman, A.P.2
  • 14
    • 84884164889 scopus 로고    scopus 로고
    • Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling
    • COI: 1:CAS:528:DC%2BC3sXhsVCltbnK, PID: 23881911
    • Fan M, Sidhu R, Fujiwara H et al (2013) Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling. J Lipid Res 54:2800–2814
    • (2013) J Lipid Res , vol.54 , pp. 2800-2814
    • Fan, M.1    Sidhu, R.2    Fujiwara, H.3
  • 15
    • 79851476846 scopus 로고    scopus 로고
    • Regulation of the NPC2 protein-mediated cholesterol trafficking by membrane lipids
    • COI: 1:CAS:528:DC%2BC3MXjt1amtrg%3D, PID: 21214551
    • Gallala HD, Breiden B, Sandhoff K (2011) Regulation of the NPC2 protein-mediated cholesterol trafficking by membrane lipids. J Neurochem 116:702–707
    • (2011) J Neurochem , vol.116 , pp. 702-707
    • Gallala, H.D.1    Breiden, B.2    Sandhoff, K.3
  • 16
    • 43749115379 scopus 로고    scopus 로고
    • Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding
    • COI: 1:CAS:528:DC%2BD1cXjsFCgsro%3D, PID: 18216017
    • Gelsthorpe ME, Baumann N, Millard E et al (2008) Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding. J Biol Chem 283:8229–8236
    • (2008) J Biol Chem , vol.283 , pp. 8229-8236
    • Gelsthorpe, M.E.1    Baumann, N.2    Millard, E.3
  • 17
    • 0026648695 scopus 로고
    • Type C Niemann-Pick disease: a murine model of the lysosomal cholesterol lipidosis accumulates sphingosine and sphinganine in liver
    • COI: 1:CAS:528:DyaK38Xls1yrurY%3D, PID: 1324734
    • Goldin E, Roff CF, Miller SP et al (1992) Type C Niemann-Pick disease: a murine model of the lysosomal cholesterol lipidosis accumulates sphingosine and sphinganine in liver. Biochim Biophys Acta 1127:303–311
    • (1992) Biochim Biophys Acta , vol.1127 , pp. 303-311
    • Goldin, E.1    Roff, C.F.2    Miller, S.P.3
  • 18
    • 77951158568 scopus 로고    scopus 로고
    • Niemann-Pick C1 functions independently of Niemann-Pick C2 in the initial stage of retrograde transport of membrane-impermeable lysosomal cargo
    • COI: 1:CAS:528:DC%2BC3cXhs1aktr4%3D, PID: 20007703
    • Goldman SD, Krise JP (2010) Niemann-Pick C1 functions independently of Niemann-Pick C2 in the initial stage of retrograde transport of membrane-impermeable lysosomal cargo. J Biol Chem 285:4983–4994
    • (2010) J Biol Chem , vol.285 , pp. 4983-4994
    • Goldman, S.D.1    Krise, J.P.2
  • 19
    • 0032887393 scopus 로고    scopus 로고
    • Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network
    • COI: 1:CAS:528:DyaK1MXlslenur4%3D, PID: 10479477
    • Higgins ME, Davies JP, Chen FW, Ioannou YA (1999) Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network. Mol Genet Metab 68:1–13
    • (1999) Mol Genet Metab , vol.68 , pp. 1-13
    • Higgins, M.E.1    Davies, J.P.2    Chen, F.W.3    Ioannou, Y.A.4
  • 20
    • 84903999212 scopus 로고    scopus 로고
    • Development and validation of sensitive LC-MS/MS assays for quantification of 2-hydroxypropyl-beta-cyclodextrin in human plasma and CSF
    • COI: 1:CAS:528:DC%2BC2cXhtVyls7bF, PID: 24868096
    • Jiang H, Sidhu R, Fujiwara H et al (2014) Development and validation of sensitive LC-MS/MS assays for quantification of 2-hydroxypropyl-beta-cyclodextrin in human plasma and CSF. J Lipid Res 55:1537–1548
    • (2014) J Lipid Res , vol.55 , pp. 1537-1548
    • Jiang, H.1    Sidhu, R.2    Fujiwara, H.3
  • 21
    • 0036896284 scopus 로고    scopus 로고
    • Cholesterol accumulates in cell bodies, but is decreased in distal axons, of Niemann-Pick C1-deficient neurons
    • COI: 1:CAS:528:DC%2BD38XptlGktro%3D, PID: 12437586
    • Karten B, Vance DE, Campenot RB, Vance JE (2002) Cholesterol accumulates in cell bodies, but is decreased in distal axons, of Niemann-Pick C1-deficient neurons. J Neurochem 83:1154–1163
    • (2002) J Neurochem , vol.83 , pp. 1154-1163
    • Karten, B.1    Vance, D.E.2    Campenot, R.B.3    Vance, J.E.4
  • 22
    • 84869063596 scopus 로고    scopus 로고
    • Niemann-Pick Type C2 protein contributes to the transport of endosomal cholesterol to mitochondria without interacting with NPC1
    • COI: 1:CAS:528:DC%2BC38XhslOisrnF, PID: 22962690
    • Kennedy BE, Charman M, Karten B (2012) Niemann-Pick Type C2 protein contributes to the transport of endosomal cholesterol to mitochondria without interacting with NPC1. J Lipid Res 53:2632–2642
    • (2012) J Lipid Res , vol.53 , pp. 2632-2642
    • Kennedy, B.E.1    Charman, M.2    Karten, B.3
  • 23
    • 84902186984 scopus 로고    scopus 로고
    • Adaptations of energy metabolism associated with increased levels of mitochondrial cholesterol in Niemann-Pick type C1-deficient Cells
    • COI: 1:CAS:528:DC%2BC2cXptl2qtrY%3D, PID: 24790103
    • Kennedy BE, Madreiter CT, Vishnu N, Malli R, Graier WF, Karten B (2014) Adaptations of energy metabolism associated with increased levels of mitochondrial cholesterol in Niemann-Pick type C1-deficient Cells. J Biol Chem 289:16278–16289
    • (2014) J Biol Chem , vol.289 , pp. 16278-16289
    • Kennedy, B.E.1    Madreiter, C.T.2    Vishnu, N.3    Malli, R.4    Graier, W.F.5    Karten, B.6
  • 24
    • 77951924919 scopus 로고    scopus 로고
    • Lysosomal degradation of membrane lipids
    • COI: 1:CAS:528:DC%2BC3cXkvFKqur4%3D, PID: 19836391
    • Kolter T, Sandhoff K (2010) Lysosomal degradation of membrane lipids. FEBS Lett 584:1700–1712
    • (2010) FEBS Lett , vol.584 , pp. 1700-1712
    • Kolter, T.1    Sandhoff, K.2
  • 25
    • 0022869016 scopus 로고
    • Type C Niemann-Pick disease. Abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblasts
    • COI: 1:CAS:528:DyaL28XmtVOit70%3D, PID: 3782141
    • Kruth HS, Comly ME, Butler JD et al (1986) Type C Niemann-Pick disease. Abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblasts. J Biol Chem 261:16769–16774
    • (1986) J Biol Chem , vol.261 , pp. 16769-16774
    • Kruth, H.S.1    Comly, M.E.2    Butler, J.D.3
  • 26
    • 67549105629 scopus 로고    scopus 로고
    • Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol
    • PID: 19563754
    • Kwon HJ, Abi-Mosleh L, Wang ML et al (2009) Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol. Cell 137:1213–1224
    • (2009) Cell , vol.137 , pp. 1213-1224
    • Kwon, H.J.1    Abi-Mosleh, L.2    Wang, M.L.3
  • 27
    • 79851470428 scopus 로고    scopus 로고
    • Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice
    • COI: 1:CAS:528:DC%2BC3MXjt1amt7g%3D, PID: 21214563
    • Ledesma MD, Prinetti A, Sonnino S, Schuchman EH (2011) Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice. J Neurochem 116:779–788
    • (2011) J Neurochem , vol.116 , pp. 779-788
    • Ledesma, M.D.1    Prinetti, A.2    Sonnino, S.3    Schuchman, E.H.4
  • 28
    • 51449101047 scopus 로고    scopus 로고
    • GM2/GD2 and GM3 gangliosides have no effect on cellular cholesterol pools or turnover in normal or NPC1 mice
    • COI: 1:CAS:528:DC%2BD1cXovVCrsbc%3D, PID: 18450647
    • Li H, Turley SD, Liu B, Repa JJ, Dietschy JM (2008) GM2/GD2 and GM3 gangliosides have no effect on cellular cholesterol pools or turnover in normal or NPC1 mice. J Lipid Res 49:1816–1828
    • (2008) J Lipid Res , vol.49 , pp. 1816-1828
    • Li, H.1    Turley, S.D.2    Liu, B.3    Repa, J.J.4    Dietschy, J.M.5
  • 30
    • 84893352301 scopus 로고    scopus 로고
    • Determination of 7-ketocholesterol in plasma by liquid chromatography mass spectrometry for rapid diagnosis of acid sphingomyelinase deficient Niemann-Pick disease
    • COI: 1:CAS:528:DC%2BC2cXlvVWhug%3D%3D, PID: 24190732
    • Lin N, Zhang H, Qiu W et al (2014) Determination of 7-ketocholesterol in plasma by liquid chromatography mass spectrometry for rapid diagnosis of acid sphingomyelinase deficient Niemann-Pick disease. J Lipid Res 55:338–343
    • (2014) J Lipid Res , vol.55 , pp. 338-343
    • Lin, N.1    Zhang, H.2    Qiu, W.3
  • 31
    • 0034639928 scopus 로고    scopus 로고
    • Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse
    • COI: 1:CAS:528:DC%2BD3cXivFyktL4%3D, PID: 10767333
    • Liu Y, Wu YP, Wada R et al (2000) Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse. Hum Mol Genet 9:1087–1092
    • (2000) Hum Mol Genet , vol.9 , pp. 1087-1092
    • Liu, Y.1    Wu, Y.P.2    Wada, R.3
  • 32
    • 55549134611 scopus 로고    scopus 로고
    • Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium
    • COI: 1:CAS:528:DC%2BD1cXhtlCjtLrL, PID: 18953351
    • Lloyd-Evans E, Morgan AJ, He X et al (2008) Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med 14:1247–1255
    • (2008) Nat Med , vol.14 , pp. 1247-1255
    • Lloyd-Evans, E.1    Morgan, A.J.2    He, X.3
  • 33
    • 79952998335 scopus 로고    scopus 로고
    • Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type C disorder
    • COI: 1:CAS:528:DC%2BC3MXktVKrtro%3D, PID: 21430138
    • Lopez ME, Klein AD, Dimbil UJ, Scott MP (2011) Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type C disorder. J Neurosci 31:4367–4378
    • (2011) J Neurosci , vol.31 , pp. 4367-4378
    • Lopez, M.E.1    Klein, A.D.2    Dimbil, U.J.3    Scott, M.P.4
  • 34
    • 84902161379 scopus 로고    scopus 로고
    • Genetic and chemical correction of cholesterol accumulation and impaired autophagy in hepatic and neural cells derived from Niemann-Pick type C patient-specific iPS cells
    • COI: 1:CAS:528:DC%2BC2cXhtVWmt7rF
    • Maetzel D, Sarkar S, Wang H et al (2014) Genetic and chemical correction of cholesterol accumulation and impaired autophagy in hepatic and neural cells derived from Niemann-Pick type C patient-specific iPS cells. Stem Cell Rep 2:866–880
    • (2014) Stem Cell Rep , vol.2 , pp. 866-880
    • Maetzel, D.1    Sarkar, S.2    Wang, H.3
  • 35
    • 84863022173 scopus 로고    scopus 로고
    • A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations
    • COI: 1:CAS:528:DC%2BC38XhsVanurk%3D, PID: 22048958
    • Maue RA, Burgess RW, Wang B et al (2012) A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations. Hum Mol Genet 21:730–750
    • (2012) Hum Mol Genet , vol.21 , pp. 730-750
    • Maue, R.A.1    Burgess, R.W.2    Wang, B.3
  • 36
    • 0019780708 scopus 로고
    • Changes in cholesterol metabolism in cultured fibroblasts from patients with Niemann-Pick disease
    • PID: 6272787
    • Mazière JC, Mazière C, Gardette J, Mora L, Polonovski J (1981) Changes in cholesterol metabolism in cultured fibroblasts from patients with Niemann-Pick disease. Biochem Biophys Res Commun 102:113–118
    • (1981) Biochem Biophys Res Commun , vol.102 , pp. 113-118
    • Mazière, J.C.1    Mazière, C.2    Gardette, J.3    Mora, L.4    Polonovski, J.5
  • 37
    • 84859907529 scopus 로고    scopus 로고
    • Ebola virus entry requires the host-programmed recognition of an intracellular receptor
    • Miller EH, Obernosterer G, Raaben M, et al (2012) Ebola virus entry requires the host-programmed recognition of an intracellular receptor. EMBO J 31:1947–1960
    • (2012) EMBO J , vol.31 , pp. 1947-1960
    • Miller, E.H.1    Obernosterer, G.2    Raaben, M.3
  • 38
    • 0034704245 scopus 로고    scopus 로고
    • Identification of HE1 as the second gene of Niemann-Pick C disease
    • COI: 1:CAS:528:DC%2BD3cXptFSmsro%3D, PID: 11125141
    • Naureckiene S, Sleat DE, Lackland H et al (2000) Identification of HE1 as the second gene of Niemann-Pick C disease. Science 290:2298–2301
    • (2000) Science , vol.290 , pp. 2298-2301
    • Naureckiene, S.1    Sleat, D.E.2    Lackland, H.3
  • 40
    • 84862532953 scopus 로고    scopus 로고
    • Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update
    • COI: 1:CAS:528:DC%2BC38Xmslylsr4%3D, PID: 22572546
    • Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F (2012) Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab 106:330–344
    • (2012) Mol Genet Metab , vol.106 , pp. 330-344
    • Patterson, M.C.1    Hendriksz, C.J.2    Walterfang, M.3    Sedel, F.4    Vanier, M.T.5    Wijburg, F.6
  • 41
    • 85009083396 scopus 로고    scopus 로고
    • Disease and patient characteristics in NP-C patients: findings from an international disease registry
    • PID: 23324478
    • Patterson MC, Mengel E, Wijburg FA et al (2013) Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis 8:12
    • (2013) Orphanet J Rare Dis , vol.8 , pp. 12
    • Patterson, M.C.1    Mengel, E.2    Wijburg, F.A.3
  • 42
    • 0019124675 scopus 로고
    • A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase
    • COI: 1:CAS:528:DyaL3cXlvVerur4%3D, PID: 6257302
    • Pentchev PG, Gal AE, Booth AD et al (1980) A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase. Biochim Biophys Acta 619:669–679
    • (1980) Biochim Biophys Acta , vol.619 , pp. 669-679
    • Pentchev, P.G.1    Gal, A.E.2    Booth, A.D.3
  • 43
    • 0023588096 scopus 로고
    • Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts
    • COI: 1:CAS:528:DyaL2sXltlajtbw%3D, PID: 3609608
    • Pentchev PG, Comly ME, Kruth HS et al (1987) Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts. FASEB J 1:40–45
    • (1987) FASEB J , vol.1 , pp. 40-45
    • Pentchev, P.G.1    Comly, M.E.2    Kruth, H.S.3
  • 44
    • 0014480882 scopus 로고
    • Niemann-Pick disease. Morphologic and biochemical studies in the visceral form with late central nervous system involvement (Crocker's group C)
    • COI: 1:STN:280:DyaF1M7hslyisA%3D%3D, PID: 5766485
    • Philippart M, Martin L, Martin JJ, Menkes JH (1969) Niemann-Pick disease. Morphologic and biochemical studies in the visceral form with late central nervous system involvement (Crocker's group C). Arch Neurol 20:227–238
    • (1969) Arch Neurol , vol.20 , pp. 227-238
    • Philippart, M.1    Martin, L.2    Martin, J.J.3    Menkes, J.H.4
  • 45
    • 84906858707 scopus 로고    scopus 로고
    • Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease
    • COI: 1:CAS:528:DC%2BC2cXhvVSgtL3K, PID: 25184529
    • Platt FM, Wassif C, Colaco A et al (2014) Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease. Annu Rev Genomics Hum Genet 15:173–194
    • (2014) Annu Rev Genomics Hum Genet , vol.15 , pp. 173-194
    • Platt, F.M.1    Wassif, C.2    Colaco, A.3
  • 46
    • 84874741823 scopus 로고    scopus 로고
    • The cytosolic adaptor AP-1A is essential for the trafficking and function of Niemann-Pick type C proteins
    • COI: 1:CAS:528:DC%2BC3sXltlKjsLw%3D, PID: 23350547
    • Poirier S, Mayer G, Murphy SR et al (2013) The cytosolic adaptor AP-1A is essential for the trafficking and function of Niemann-Pick type C proteins. Traffic 14:458–469
    • (2013) Traffic , vol.14 , pp. 458-469
    • Poirier, S.1    Mayer, G.2    Murphy, S.R.3
  • 47
    • 78149342830 scopus 로고    scopus 로고
    • Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease
    • PID: 21048217
    • Porter FD, Scherrer DE, Lanier MH et al (2010) Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med 2:56ra81
    • (2010) Sci Transl Med , vol.2 , pp. 56ra81
    • Porter, F.D.1    Scherrer, D.E.2    Lanier, M.H.3
  • 48
    • 0033203501 scopus 로고    scopus 로고
    • Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases
    • COI: 1:CAS:528:DyaK1MXmvVeqsLg%3D, PID: 10559968
    • Puri V, Watanabe R, Dominguez M et al (1999) Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases. Nat Cell Biol 1:386–388
    • (1999) Nat Cell Biol , vol.1 , pp. 386-388
    • Puri, V.1    Watanabe, R.2    Dominguez, M.3
  • 49
    • 0034528837 scopus 로고    scopus 로고
    • Posttranslational regulation of acid sphingomyelinase in Niemann-Pick type C1 fibroblasts and free cholesterol-enriched Chinese hamster ovary cells
    • COI: 1:CAS:528:DC%2BD3cXoslWnsrg%3D, PID: 10978332
    • Reagan JW Jr, Hubbert ML, Shelness GS (2000) Posttranslational regulation of acid sphingomyelinase in Niemann-Pick type C1 fibroblasts and free cholesterol-enriched Chinese hamster ovary cells. J Biol Chem 275:38104–38110
    • (2000) J Biol Chem , vol.275 , pp. 38104-38110
    • Reagan, J.W.1    Hubbert, M.L.2    Shelness, G.S.3
  • 50
    • 1542513994 scopus 로고    scopus 로고
    • A novel cholesterol stain reveals early neuronal cholesterol accumulation in the Niemann-Pick type C1 mouse brain
    • COI: 1:CAS:528:DC%2BD2cXisFWgu7s%3D, PID: 14703504
    • Reid PC, Sakashita N, Sugii S et al (2004) A novel cholesterol stain reveals early neuronal cholesterol accumulation in the Niemann-Pick type C1 mouse brain. J Lipid Res 45:582–591
    • (2004) J Lipid Res , vol.45 , pp. 582-591
    • Reid, P.C.1    Sakashita, N.2    Sugii, S.3
  • 51
    • 0034903931 scopus 로고    scopus 로고
    • Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations
    • COI: 1:CAS:528:DC%2BD3MXltlGqt74%3D, PID: 11479732
    • Ribeiro I, Marcao A, Amaral O et al (2001) Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. Hum Genet 109:24–32
    • (2001) Hum Genet , vol.109 , pp. 24-32
    • Ribeiro, I.1    Marcao, A.2    Amaral, O.3
  • 52
    • 0032934036 scopus 로고    scopus 로고
    • Sphingosylphosphorylcholine in Niemann-Pick disease brain: accumulation in type A but not in type B
    • COI: 1:CAS:528:DyaK1MXmt1Oltw%3D%3D, PID: 9972865
    • Rodriguez-Lafrasse C, Vanier MT (1999) Sphingosylphosphorylcholine in Niemann-Pick disease brain: accumulation in type A but not in type B. Neurochem Res 24:199–205
    • (1999) Neurochem Res , vol.24 , pp. 199-205
    • Rodriguez-Lafrasse, C.1    Vanier, M.T.2
  • 53
    • 0028334261 scopus 로고
    • Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders
    • COI: 1:CAS:528:DyaK2cXktlanu7o%3D, PID: 8204660
    • Rodriguez-Lafrasse C, Rousson R, Pentchev PG, Louisot P, Vanier MT (1994) Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders. Biochim Biophys Acta 1226:138–144
    • (1994) Biochim Biophys Acta , vol.1226 , pp. 138-144
    • Rodriguez-Lafrasse, C.1    Rousson, R.2    Pentchev, P.G.3    Louisot, P.4    Vanier, M.T.5
  • 54
    • 0030863593 scopus 로고    scopus 로고
    • Modulation of protein kinase C by endogenous sphingosine: inhibition of phorbol dibutyrate binding in Niemann-Pick C fibroblasts
    • COI: 1:CAS:528:DyaK2sXlsVCrt7w%3D, PID: 9271101
    • Rodriguez-Lafrasse C, Rousson R, Valla S et al (1997) Modulation of protein kinase C by endogenous sphingosine: inhibition of phorbol dibutyrate binding in Niemann-Pick C fibroblasts. Biochem J 325:787–791
    • (1997) Biochem J , vol.325 , pp. 787-791
    • Rodriguez-Lafrasse, C.1    Rousson, R.2    Valla, S.3
  • 55
    • 0026410676 scopus 로고
    • Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transport
    • COI: 1:STN:280:DyaK383otlWisQ%3D%3D, PID: 1817037
    • Roff CF, Goldin E, Comly ME et al (1991) Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transport. Dev Neurosci 13:315–319
    • (1991) Dev Neurosci , vol.13 , pp. 315-319
    • Roff, C.F.1    Goldin, E.2    Comly, M.E.3
  • 56
    • 2342436735 scopus 로고    scopus 로고
    • Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C
    • COI: 1:CAS:528:DC%2BD2cXjt1Gntbg%3D, PID: 14757764
    • Salvioli R, Scarpa S, Ciaffoni F et al (2004) Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C. J Biol Chem 279:17674–17680
    • (2004) J Biol Chem , vol.279 , pp. 17674-17680
    • Salvioli, R.1    Scarpa, S.2    Ciaffoni, F.3
  • 57
    • 84890144959 scopus 로고    scopus 로고
    • Impaired autophagy in the lipid-storage disorder Niemann-Pick type C1 disease
    • COI: 1:CAS:528:DC%2BC3sXhvVKit7nP, PID: 24290752
    • Sarkar S, Carroll B, Buganim Y et al (2013) Impaired autophagy in the lipid-storage disorder Niemann-Pick type C1 disease. Cell Rep 5:1302–1315
    • (2013) Cell Rep , vol.5 , pp. 1302-1315
    • Sarkar, S.1    Carroll, B.2    Buganim, Y.3
  • 58
    • 84903574781 scopus 로고    scopus 로고
    • Restarting stalled autophagy a potential therapeutic approach for the lipid storage disorder, Niemann-Pick type C1 disease
    • PID: 24879158
    • Sarkar S, Maetzel D, Korolchuk VI, Jaenisch R (2014) Restarting stalled autophagy a potential therapeutic approach for the lipid storage disorder, Niemann-Pick type C1 disease. Autophagy 10:1137–1140
    • (2014) Autophagy , vol.10 , pp. 1137-1140
    • Sarkar, S.1    Maetzel, D.2    Korolchuk, V.I.3    Jaenisch, R.4
  • 59
    • 11144355005 scopus 로고    scopus 로고
    • Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport
    • COI: 1:CAS:528:DC%2BD2cXjsFKns74%3D, PID: 15071184
    • Sleat DE, Wiseman JA, El-Banna M et al (2004) Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. Proc Natl Acad Sci U S A 101:5886–5891
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 5886-5891
    • Sleat, D.E.1    Wiseman, J.A.2    El-Banna, M.3
  • 60
    • 84871348271 scopus 로고    scopus 로고
    • Proteomic analysis of mouse models of Niemann-Pick C disease reveals alterations in the steady-state levels of lysosomal proteins within the brain
    • COI: 1:CAS:528:DC%2BC38Xhsleksb3J, PID: 23070805
    • Sleat DE, Wiseman JA, Sohar I et al (2012) Proteomic analysis of mouse models of Niemann-Pick C disease reveals alterations in the steady-state levels of lysosomal proteins within the brain. Proteomics 12:3499–3509
    • (2012) Proteomics , vol.12 , pp. 3499-3509
    • Sleat, D.E.1    Wiseman, J.A.2    Sohar, I.3
  • 61
    • 0003720085 scopus 로고
    • Sphingomyelin-cholesterol lipidoses: the Niemann-Pick group of diseases
    • Scriver CR, Beaudet AL, Sly WS, Valle D, (eds), McGraw-Hill, New York:
    • Spence MW, Callahan JW (1989) Sphingomyelin-cholesterol lipidoses: the Niemann-Pick group of diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1655–1676
    • (1989) The metabolic and molecular bases of inherited disease , pp. 1655-1676
    • Spence, M.W.1    Callahan, J.W.2
  • 62
    • 84860224053 scopus 로고    scopus 로고
    • Miglustat improves Purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C
    • COI: 1:CAS:528:DC%2BC38XlvFeitbs%3D, PID: 22487861
    • Stein VM, Crooks A, Ding W et al (2012) Miglustat improves Purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C. J Neuropathol Exp Neurol 71:434–448
    • (2012) J Neuropathol Exp Neurol , vol.71 , pp. 434-448
    • Stein, V.M.1    Crooks, A.2    Ding, W.3
  • 63
    • 67649255316 scopus 로고    scopus 로고
    • Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking
    • COI: 1:CAS:528:DC%2BD1MXnt1Gnsbg%3D, PID: 19232397
    • Storch J, Xu Z (2009) Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking. Biochim Biophys Acta 1791:671–678
    • (2009) Biochim Biophys Acta , vol.1791 , pp. 671-678
    • Storch, J.1    Xu, Z.2
  • 64
    • 32044475128 scopus 로고    scopus 로고
    • Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency
    • COI: 1:CAS:528:DC%2BD28XhtlGnsrY%3D, PID: 16143556
    • Tamura H, Takahashi T, Ban N et al (2006) Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency. Mol Genet Metab 87:113–121
    • (2006) Mol Genet Metab , vol.87 , pp. 113-121
    • Tamura, H.1    Takahashi, T.2    Ban, N.3
  • 65
    • 0024474453 scopus 로고
    • Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture media
    • COI: 1:CAS:528:DyaL1MXltlWqsLk%3D, PID: 2547109
    • Thomas GH, Tuck-Muller CM, Miller CS, Reynolds LW (1989) Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture media. J Inherit Metab Dis 12:139–151
    • (1989) J Inherit Metab Dis , vol.12 , pp. 139-151
    • Thomas, G.H.1    Tuck-Muller, C.M.2    Miller, C.S.3    Reynolds, L.W.4
  • 66
    • 0015745808 scopus 로고
    • Brain lipids of a case of juvenile Niemann-Pick disease
    • COI: 1:CAS:528:DyaE2cXotVOltw%3D%3D, PID: 4771441
    • Tjiong HB, Seng PN, Debuch H, Wiedemann HR (1973) Brain lipids of a case of juvenile Niemann-Pick disease. J Neurochem 21:1475–1485
    • (1973) J Neurochem , vol.21 , pp. 1475-1485
    • Tjiong, H.B.1    Seng, P.N.2    Debuch, H.3    Wiedemann, H.R.4
  • 67
    • 84881257430 scopus 로고    scopus 로고
    • Cholesterol binding molecules MLN64 and ORP1L mark distinct late endosomes with transporters ABCA3 and NPC1
    • van der Kant R, Zondervan I, Janssen L, Neefjes J (2013) Cholesterol binding molecules MLN64 and ORP1L mark distinct late endosomes with transporters ABCA3 and NPC1. J Lipid Res 54:2153–2165
    • (2013) J Lipid Res , vol.54 , pp. 2153-2165
    • van der Kant, R.1    Zondervan, I.2    Janssen, L.3    Neefjes, J.4
  • 68
    • 84870002036 scopus 로고    scopus 로고
    • Dysregulation of cholesterol balance in the brain: contribution to neurodegenerative diseases
    • COI: 1:CAS:528:DC%2BC3sXnt1Krtw%3D%3D, PID: 23065638
    • Vance JE (2012) Dysregulation of cholesterol balance in the brain: contribution to neurodegenerative diseases. Dis Model Mech 5:746–755
    • (2012) Dis Model Mech , vol.5 , pp. 746-755
    • Vance, J.E.1
  • 69
    • 84905033032 scopus 로고    scopus 로고
    • Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin
    • COI: 1:CAS:528:DC%2BC2cXht1agsrjJ, PID: 24664998
    • Vance JE, Karten B (2014) Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin. J Lipid Res 55:1609–1621
    • (2014) J Lipid Res , vol.55 , pp. 1609-1621
    • Vance, J.E.1    Karten, B.2
  • 70
    • 0020658595 scopus 로고
    • Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen
    • COI: 1:CAS:528:DyaL3sXltFGmtA%3D%3D, PID: 6824712
    • Vanier MT (1983) Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen. Biochim Biophys Acta 750:178–184
    • (1983) Biochim Biophys Acta , vol.750 , pp. 178-184
    • Vanier, M.T.1
  • 71
    • 0032892536 scopus 로고    scopus 로고
    • Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature
    • COI: 1:CAS:528:DyaK1MXisFKjtbo%3D, PID: 10227680
    • Vanier MT (1999) Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature. Neurochem Res 24:481–489
    • (1999) Neurochem Res , vol.24 , pp. 481-489
    • Vanier, M.T.1
  • 72
    • 77953019480 scopus 로고    scopus 로고
    • Niemann-Pick disease type C
    • PID: 20525256
    • Vanier MT (2010) Niemann-Pick disease type C. Orphanet J Rare Dis 5:16
    • (2010) Orphanet J Rare Dis , vol.5 , pp. 16
    • Vanier, M.T.1
  • 74
    • 0141886877 scopus 로고    scopus 로고
    • Niemann-Pick disease type C
    • COI: 1:STN:280:DC%2BD3svos1ektw%3D%3D, PID: 12974729
    • Vanier MT, Millat G (2003) Niemann-Pick disease type C. Clin Genet 64:269–281
    • (2003) Clin Genet , vol.64 , pp. 269-281
    • Vanier, M.T.1    Millat, G.2
  • 75
    • 84880099607 scopus 로고    scopus 로고
    • Niemann-Pick disese type C
    • Mehta A, Winchester B, (eds), Wiley-Blackwell, Chichester:
    • Vanier MT, Patterson MC (2012) Niemann-Pick disese type C. In: Mehta A, Winchester B (eds) Lysosomal storage disorders. A practical guide. Wiley-Blackwell, Chichester, pp 87–93
    • (2012) Lysosomal storage disorders. A practical guide , pp. 87-93
    • Vanier, M.T.1    Patterson, M.C.2
  • 76
    • 0031983861 scopus 로고    scopus 로고
    • Recent advances in elucidating Niemann-Pick C disease
    • COI: 1:STN:280:DyaK1c7hslekug%3D%3D, PID: 9458174
    • Vanier MT, Suzuki K (1998) Recent advances in elucidating Niemann-Pick C disease. Brain Pathol 8:163–174
    • (1998) Brain Pathol , vol.8 , pp. 163-174
    • Vanier, M.T.1    Suzuki, K.2
  • 77
    • 0018879888 scopus 로고
    • Sphingomyelinase activities of various human tissues in control subjects and in Niemann-Pick disease - development and evaluation of a microprocedure
    • COI: 1:STN:280:DyaL3M%2FitlSitg%3D%3D, PID: 6251986
    • Vanier MT, Revol A, Fichet M (1980) Sphingomyelinase activities of various human tissues in control subjects and in Niemann-Pick disease - development and evaluation of a microprocedure. Clin Chim Acta 106:257–267
    • (1980) Clin Chim Acta , vol.106 , pp. 257-267
    • Vanier, M.T.1    Revol, A.2    Fichet, M.3
  • 78
    • 0023879638 scopus 로고
    • Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients
    • COI: 1:STN:280:DyaL1c3ktF2ksw%3D%3D, PID: 3378364
    • Vanier MT, Wenger DA, Comly ME, Rousson R, Brady RO, Pentchev PG (1988) Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients. Clin Genet 33:331–348
    • (1988) Clin Genet , vol.33 , pp. 331-348
    • Vanier, M.T.1    Wenger, D.A.2    Comly, M.E.3    Rousson, R.4    Brady, R.O.5    Pentchev, P.G.6
  • 80
    • 0025777970 scopus 로고
    • Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing
    • COI: 1:CAS:528:DyaK3MXksVOhtbk%3D, PID: 2065104
    • Vanier MT, Rodriguez-Lafrasse C, Rousson R et al (1991b) Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta 1096:328–337
    • (1991) Biochim Biophys Acta , vol.1096 , pp. 328-337
    • Vanier, M.T.1    Rodriguez-Lafrasse, C.2    Rousson, R.3
  • 81
    • 0029655528 scopus 로고    scopus 로고
    • Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis
    • COI: 1:CAS:528:DyaK28XkvFCmtg%3D%3D, PID: 8554047
    • Vanier MT, Duthel S, Rodriguez-Lafrasse C, Pentchev P, Carstea ED (1996) Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. Am J Hum Genet 58:118–125
    • (1996) Am J Hum Genet , vol.58 , pp. 118-125
    • Vanier, M.T.1    Duthel, S.2    Rodriguez-Lafrasse, C.3    Pentchev, P.4    Carstea, E.D.5
  • 82
    • 80455145823 scopus 로고    scopus 로고
    • Intrathecal cyclodextrin therapy of feline Niemann-Pick type C disease
    • Vite C, Mauldin E, Ward S et al (2011) Intrathecal cyclodextrin therapy of feline Niemann-Pick type C disease. Mol Genet Metab 102:544
    • (2011) Mol Genet Metab , vol.102 , pp. 544
    • Vite, C.1    Mauldin, E.2    Ward, S.3
  • 83
    • 4744365602 scopus 로고    scopus 로고
    • Consequences of NPC1 and NPC2 loss of function in mammalian neurons
    • COI: 1:CAS:528:DC%2BD2cXotFCksbc%3D, PID: 15465426
    • Walkley SU, Suzuki K (2004) Consequences of NPC1 and NPC2 loss of function in mammalian neurons. Biochim Biophys Acta 1685:48–62
    • (2004) Biochim Biophys Acta , vol.1685 , pp. 48-62
    • Walkley, S.U.1    Suzuki, K.2
  • 84
    • 62949156035 scopus 로고    scopus 로고
    • Secondary lipid accumulation in lysosomal disease
    • COI: 1:CAS:528:DC%2BD1MXjslOltr4%3D, PID: 19111580
    • Walkley SU, Vanier MT (2009) Secondary lipid accumulation in lysosomal disease. Biochim Biophys Acta 1793:726–736
    • (2009) Biochim Biophys Acta , vol.1793 , pp. 726-736
    • Walkley, S.U.1    Vanier, M.T.2
  • 85
    • 60049091317 scopus 로고    scopus 로고
    • Endosomal lipid accumulation in NPC1 leads to inhibition of PKC, hypophosphorylation of vimentin and Rab9 entrapment
    • COI: 1:CAS:528:DC%2BD1MXotFWjtg%3D%3D, PID: 18681838
    • Walter M, Chen FW, Tamari F, Wang R, Ioannou YA (2009) Endosomal lipid accumulation in NPC1 leads to inhibition of PKC, hypophosphorylation of vimentin and Rab9 entrapment. Biol Cell 101:141–152
    • (2009) Biol Cell , vol.101 , pp. 141-152
    • Walter, M.1    Chen, F.W.2    Tamari, F.3    Wang, R.4    Ioannou, Y.A.5
  • 86
    • 78649916808 scopus 로고    scopus 로고
    • Identification of surface residues on Niemann-Pick C2 essential for hydrophobic handoff of cholesterol to NPC1 in lysosomes
    • PID: 20674861
    • Wang ML, Motamed M, Infante RE et al (2010) Identification of surface residues on Niemann-Pick C2 essential for hydrophobic handoff of cholesterol to NPC1 in lysosomes. Cell Metab 12:166–173
    • (2010) Cell Metab , vol.12 , pp. 166-173
    • Wang, M.L.1    Motamed, M.2    Infante, R.E.3
  • 87
    • 0022385951 scopus 로고
    • Neurological mutation characterized by dysmyelination in NCTR-Balb/C mouse with lysosomal lipid storage disease
    • COI: 1:CAS:528:DyaL2MXltl2ks7c%3D, PID: 4031853
    • Weintraub H, Abramovici A, Sandbank U et al (1985) Neurological mutation characterized by dysmyelination in NCTR-Balb/C mouse with lysosomal lipid storage disease. J Neurochem 45:665–672
    • (1985) J Neurochem , vol.45 , pp. 665-672
    • Weintraub, H.1    Abramovici, A.2    Sandbank, U.3
  • 88
    • 30844436109 scopus 로고    scopus 로고
    • Mannose 6-phosphate receptors, Niemann-Pick C2 protein, and lysosomal cholesterol accumulation
    • COI: 1:CAS:528:DC%2BD2MXhtlWmsLbJ, PID: 16177447
    • Willenborg M, Schmidt CK, Braun P et al (2005) Mannose 6-phosphate receptors, Niemann-Pick C2 protein, and lysosomal cholesterol accumulation. J Lipid Res 46:2559–2569
    • (2005) J Lipid Res , vol.46 , pp. 2559-2569
    • Willenborg, M.1    Schmidt, C.K.2    Braun, P.3
  • 89
    • 84862979366 scopus 로고    scopus 로고
    • Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
    • COI: 1:CAS:528:DC%2BC38XotlCktL8%3D, PID: 22683713
    • Wortmann SB, Vaz FM, Gardeitchik T et al (2012) Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet 44:797–802
    • (2012) Nat Genet , vol.44 , pp. 797-802
    • Wortmann, S.B.1    Vaz, F.M.2    Gardeitchik, T.3
  • 90
    • 84891835203 scopus 로고    scopus 로고
    • Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations
    • COI: 1:CAS:528:DC%2BC2cXjtFOktw%3D%3D, PID: 23793527
    • Wraith JE, Sedel F, Pineda M et al (2014) Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations. J Inherit Metab Dis 37:93–101
    • (2014) J Inherit Metab Dis , vol.37 , pp. 93-101
    • Wraith, J.E.1    Sedel, F.2    Pineda, M.3
  • 91
    • 80053085866 scopus 로고    scopus 로고
    • Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice
    • COI: 1:CAS:528:DC%2BC3MXht1Gqt7zE, PID: 21896731
    • Xie X, Brown MS, Shelton JM, Richardson JA, Goldstein JL, Liang G (2011) Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice. Proc Natl Acad Sci U S A 108:15330–15335
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 15330-15335
    • Xie, X.1    Brown, M.S.2    Shelton, J.M.3    Richardson, J.A.4    Goldstein, J.L.5    Liang, G.6
  • 92
    • 84876855611 scopus 로고    scopus 로고
    • Npc1 acting in neurons and glia is essential for the formation and maintenance of CNS myelin
    • COI: 1:CAS:528:DC%2BC3sXnt1eisrs%3D, PID: 23593041
    • Yu T, Lieberman AP (2013) Npc1 acting in neurons and glia is essential for the formation and maintenance of CNS myelin. PLoS Genet 9:e1003462
    • (2013) PLoS Genet , vol.9 , pp. e1003462
    • Yu, T.1    Lieberman, A.P.2
  • 93
    • 80054918963 scopus 로고    scopus 로고
    • Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration
    • COI: 1:CAS:528:DC%2BC3MXhtlGltL3F, PID: 21856732
    • Yu T, Shakkottai VG, Chung C, Lieberman AP (2011) Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration. Hum Mol Genet 20:4440–4451
    • (2011) Hum Mol Genet , vol.20 , pp. 4440-4451
    • Yu, T.1    Shakkottai, V.G.2    Chung, C.3    Lieberman, A.P.4
  • 94
    • 0035142802 scopus 로고    scopus 로고
    • Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations
    • COI: 1:CAS:528:DC%2BD3MXptVKmuw%3D%3D, PID: 11202175
    • Zervas M, Dobrenis K, Walkley SU (2001) Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations. J Neuropathol Exp Neurol 60:49–64
    • (2001) J Neuropathol Exp Neurol , vol.60 , pp. 49-64
    • Zervas, M.1    Dobrenis, K.2    Walkley, S.U.3
  • 95
    • 1642496888 scopus 로고    scopus 로고
    • Differential trafficking of the Niemann-Pick C1 and 2 proteins highlights distinct roles in late endocytic lipid trafficking
    • COI: 1:CAS:528:DC%2BD2cXjsVynu7k%3D, PID: 14989468, discussion 45
    • Zhang M, Sun M, Dwyer NK et al (2003) Differential trafficking of the Niemann-Pick C1 and 2 proteins highlights distinct roles in late endocytic lipid trafficking. Acta Paediatr Suppl 92:63–73, discussion 45
    • (2003) Acta Paediatr Suppl , vol.92 , pp. 63-73
    • Zhang, M.1    Sun, M.2    Dwyer, N.K.3
  • 96
    • 84902465591 scopus 로고    scopus 로고
    • Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients
    • COI: 1:CAS:528:DC%2BC2cXht1Sjs7zI, PID: 24915861
    • Zhang H, Wang Y, Lin N et al (2014) Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients. Orphanet J Rare Dis 9:82
    • (2014) Orphanet J Rare Dis , vol.9 , pp. 82
    • Zhang, H.1    Wang, Y.2    Lin, N.3
  • 97
    • 80052510182 scopus 로고    scopus 로고
    • Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C
    • COI: 1:CAS:528:DC%2BC3MXhtFGjsL%2FK, PID: 21708114
    • Zhou S, Davidson C, McGlynn R et al (2011) Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C. Am J Pathol 179:890–902
    • (2011) Am J Pathol , vol.179 , pp. 890-902
    • Zhou, S.1    Davidson, C.2    McGlynn, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.