TY - JOUR AU - Wassif, C. A. AU - Cross, J. L. AU - Iben, J. AU - Sanchez-Pulido, L. AU - Cougnoux, A. AU - Platt, F. M. PY - 2016 DA - 2016// TI - High incidence of unrecognized visceral/neurological late-onset Niemann-pick disease, type C1, predicted by analysis of massively parallel sequencing data sets JO - Genet Med VL - 18 UR - https://doi.org/10.1038/gim.2015.25 DO - 10.1038/gim.2015.25 ID - Wassif2016 ER - TY - JOUR AU - Vanier, M. T. PY - 2010 DA - 2010// TI - Niemann-pick disease type C JO - Orphanet J Rare Dis. VL - 5 UR - https://doi.org/10.1186/1750-1172-5-16 DO - 10.1186/1750-1172-5-16 ID - Vanier2010 ER - TY - JOUR AU - Zervas, M. AU - Dobrenis, K. AU - Walkley, S. U. PY - 2001 DA - 2001// TI - Neurons in Niemann-pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations JO - J Neuropathol Exp Neurol VL - 60 UR - https://doi.org/10.1093/jnen/60.1.49 DO - 10.1093/jnen/60.1.49 ID - Zervas2001 ER - TY - JOUR AU - Infante, R. E. AU - Wang, M. L. AU - Radhakrishnan, A. AU - Kwon, H. J. AU - Brown, M. S. AU - Goldstein, J. L. PY - 2008 DA - 2008// TI - NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes JO - Proc Natl Acad Sci U S A VL - 105 UR - https://doi.org/10.1073/pnas.0807328105 DO - 10.1073/pnas.0807328105 ID - Infante2008 ER - TY - JOUR AU - Giese, A. -. K. AU - Mascher, H. AU - Grittner, U. AU - Eichler, S. AU - Kramp, G. AU - Lukas, J. PY - 2015 DA - 2015// TI - A novel, highly sensitive and specific biomarker for Niemann-pick type C1 disease JO - Orphanet J Rare Dis. VL - 10 UR - https://doi.org/10.1186/s13023-015-0274-1 DO - 10.1186/s13023-015-0274-1 ID - Giese2015 ER - TY - JOUR AU - Vanier, M. T. AU - Gissen, P. AU - Bauer, P. AU - Coll, M. J. AU - Burlina, A. AU - Hendriksz, C. J. PY - 2016 DA - 2016// TI - Diagnostic tests for Niemann-pick disease type C (NP-C): a critical review JO - Mol Genet Metab VL - 118 UR - https://doi.org/10.1016/j.ymgme.2016.06.004 DO - 10.1016/j.ymgme.2016.06.004 ID - Vanier2016 ER - TY - JOUR AU - Cuisset, J. -. M. AU - Sukno, S. AU - Trauffler, A. AU - Latour, P. AU - Dobbelaere, D. AU - Michaud, L. AU - Vallee, L. PY - 2016 DA - 2016// TI - Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report JO - J Med Case Rep VL - 10 UR - https://doi.org/10.1186/s13256-016-1038-9 DO - 10.1186/s13256-016-1038-9 ID - Cuisset2016 ER - TY - JOUR AU - Heron, B. AU - Valayannopoulos, V. AU - Baruteau, J. AU - Chabrol, B. AU - Ogier, H. AU - Latour, P. PY - 2012 DA - 2012// TI - Miglustat therapy in the French cohort of paediatric patients with Niemann-pick disease type C JO - Orphanet J Rare Dis. VL - 7 UR - https://doi.org/10.1186/1750-1172-7-36 DO - 10.1186/1750-1172-7-36 ID - Heron2012 ER - TY - JOUR AU - Peake, K. B. AU - Vance, J. E. PY - 2012 DA - 2012// TI - Normalization of cholesterol homeostasis by 2-hydroxypropyl-beta-cyclodextrin in neurons and glia from Niemann-pick C1 (NPC1)-deficient mice JO - J Biol Chem VL - 287 UR - https://doi.org/10.1074/jbc.M111.326405 DO - 10.1074/jbc.M111.326405 ID - Peake2012 ER - TY - JOUR AU - Pipalia, N. H. AU - Cosner, C. C. AU - Huang, A. AU - Chatterjee, A. AU - Bourbon, P. AU - Farley, N. PY - 2011 DA - 2011// TI - Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-pick type C1 mutant human fibroblasts JO - Proc Natl Acad Sci U S A VL - 108 UR - https://doi.org/10.1073/pnas.1014890108 DO - 10.1073/pnas.1014890108 ID - Pipalia2011 ER - TY - JOUR AU - Erickson, R. P. PY - 2013 DA - 2013// TI - Current controversies in Niemann-pick C1 disease: steroids or gangliosides; neurons or neurons and glia JO - J Appl Genet VL - 54 UR - https://doi.org/10.1007/s13353-012-0130-0 DO - 10.1007/s13353-012-0130-0 ID - Erickson2013 ER - TY - JOUR AU - Sofroniew, M. V. PY - 2009 DA - 2009// TI - Molecular dissection of reactive astrogliosis and glial scar formation JO - Trends Neurosci VL - 32 UR - https://doi.org/10.1016/j.tins.2009.08.002 DO - 10.1016/j.tins.2009.08.002 ID - Sofroniew2009 ER - TY - JOUR AU - Osborn, L. M. AU - Kamphuis, W. AU - Wadman, W. J. AU - Hol, E. M. PY - 2016 DA - 2016// TI - Astrogliosis: an integral player in the pathogenesis of Alzheimer’s disease JO - Prog Neurobiol VL - 144 UR - https://doi.org/10.1016/j.pneurobio.2016.01.001 DO - 10.1016/j.pneurobio.2016.01.001 ID - Osborn2016 ER - TY - JOUR AU - Buffo, A. AU - Rolando, C. AU - Ceruti, S. PY - 2010 DA - 2010// TI - Astrocytes in the damaged brain: molecular and cellular insights into their reactive response and healing potential JO - Biochem Pharmacol VL - 79 UR - https://doi.org/10.1016/j.bcp.2009.09.014 DO - 10.1016/j.bcp.2009.09.014 ID - Buffo2010 ER - TY - STD TI - Malnar M, Hecimovic S, Mattsson N, Zetterberg H. Bidirectional links between Alzheimer’s disease and Niemann-Pick type C disease. Neurobiol Dis. 2014;72:37–47. ID - ref15 ER - TY - JOUR AU - Norton, W. T. AU - Aquino, D. A. AU - Hozumi, I. AU - Chiu, F. C. AU - Brosnan, C. F. PY - 1992 DA - 1992// TI - Quantitative aspects of reactive gliosis: a review JO - Neurochem Res VL - 17 UR - https://doi.org/10.1007/BF00993263 DO - 10.1007/BF00993263 ID - Norton1992 ER - TY - JOUR AU - Eng, L. F. AU - Ghirnikar, R. S. AU - Lee, Y. L. PY - 2000 DA - 2000// TI - Glial fibrillary acidic protein: GFAP-thirty-one years (1969–2000) JO - Neurochem Res VL - 25 UR - https://doi.org/10.1023/A:1007677003387 DO - 10.1023/A:1007677003387 ID - Eng2000 ER - TY - JOUR AU - Hol, E. M. AU - Pekny, M. PY - 2015 DA - 2015// TI - Glial fibrillary acidic protein (GFAP) and the astrocyte intermediate filament system in diseases of the central nervous system JO - Curr Opin Cell Biol VL - 32 UR - https://doi.org/10.1016/j.ceb.2015.02.004 DO - 10.1016/j.ceb.2015.02.004 ID - Hol2015 ER - TY - JOUR AU - Kamphuis, W. AU - Kooijman, L. AU - Orre, M. AU - Stassen, O. AU - Pekny, M. AU - Hol, E. M. PY - 2015 DA - 2015// TI - GFAP and vimentin deficiency alters gene expression in astrocytes and microglia in wild-type mice and changes the transcriptional response of reactive glia in mouse model for Alzheimer’s disease JO - Glia VL - 63 UR - https://doi.org/10.1002/glia.22800 DO - 10.1002/glia.22800 ID - Kamphuis2015 ER - TY - JOUR AU - German, D. C. AU - Quintero, E. M. AU - Liang, C. L. AU - Ng, B. AU - Punia, S. AU - Xie, C. AU - Dietschy, J. M. PY - 2001 DA - 2001// TI - Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemann-pick C disease JO - JComp Neurol VL - 433 UR - https://doi.org/10.1002/cne.1149 DO - 10.1002/cne.1149 ID - German2001 ER - TY - JOUR AU - German, D. C. AU - Liang, C. L. AU - Song, T. AU - Yazdani, U. AU - Xie, C. AU - Dietschy, J. M. PY - 2002 DA - 2002// TI - Neurodegeneration in the Niemann-pick C mouse: glial involvement JO - Neuroscience VL - 109 UR - https://doi.org/10.1016/S0306-4522(01)00517-6 DO - 10.1016/S0306-4522(01)00517-6 ID - German2002 ER - TY - JOUR AU - Suzuki, M. AU - Sugimoto, Y. AU - Ohsaki, Y. AU - Ueno, M. AU - Kato, S. AU - Kitamura, Y. PY - 2007 DA - 2007// TI - Endosomal accumulation of toll-like receptor 4 causes constitutive secretion of cytokines and activation of signal transducers and activators of transcription in Niemann-pick disease type C (NPC) fibroblasts: a potential basis for glial cell activation in the NPC brain JO - J Neurosci VL - 27 UR - https://doi.org/10.1523/JNEUROSCI.5282-06.2007 DO - 10.1523/JNEUROSCI.5282-06.2007 ID - Suzuki2007 ER - TY - JOUR AU - Baudry, M. AU - Yao, Y. AU - Simmons, D. AU - Liu, J. AU - Bi, X. PY - 2003 DA - 2003// TI - Postnatal development of inflammation in a murine model of Niemann-pick type C disease: immunohistochemical observations of microglia and astroglia JO - Exp Neurol VL - 184 UR - https://doi.org/10.1016/S0014-4886(03)00345-5 DO - 10.1016/S0014-4886(03)00345-5 ID - Baudry2003 ER - TY - JOUR AU - Chiba, Y. AU - Komori, H. AU - Takei, S. AU - Hasegawa-Ishii, S. AU - Kawamura, N. AU - Adachi, K. PY - 2014 DA - 2014// TI - Niemann-pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case JO - Neuropathology VL - 34 UR - https://doi.org/10.1111/neup.12047 DO - 10.1111/neup.12047 ID - Chiba2014 ER - TY - JOUR AU - Cologna, S. M. AU - Cluzeau, C. V. M. AU - Yanjanin, N. M. AU - Blank, P. S. AU - Dail, M. K. AU - Siebel, S. PY - 2014 DA - 2014// TI - Human and mouse neuroinflammation markers in Niemann-pick disease, type C1 JO - J Inherit Metab Dis VL - 37 UR - https://doi.org/10.1007/s10545-013-9610-6 DO - 10.1007/s10545-013-9610-6 ID - Cologna2014 ER - TY - JOUR AU - Yamashita, S. PY - 2012 DA - 2012// TI - A case of a girl with poor school achievement, ataxia and neurological deterioration JO - Neuropathology VL - 32 UR - https://doi.org/10.1111/j.1440-1789.2011.01230.x DO - 10.1111/j.1440-1789.2011.01230.x ID - Yamashita2012 ER - TY - JOUR AU - Trilck, M. AU - Hübner, R. AU - Seibler, P. AU - Klein, C. AU - Rolfs, A. AU - Frech, M. J. PY - 2013 DA - 2013// TI - Niemann-pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks JO - Orphanet J Rare Dis VL - 8 UR - https://doi.org/10.1186/1750-1172-8-144 DO - 10.1186/1750-1172-8-144 ID - Trilck2013 ER - TY - JOUR AU - Trilck, M. AU - Peter, F. AU - Zheng, C. AU - Frank, M. AU - Dobrenis, K. AU - Mascher, H. PY - 2017 DA - 2017// TI - Diversity of Glycosphingolipid GM2 and cholesterol accumulation in NPC1 patient-specific iPSC-derived neurons//diversity of glycosphingolipid GM2 and cholesterol accumulation in NPC1 patient-specific iPSC-derived neurons JO - Brain Res VL - 1657 UR - https://doi.org/10.1016/j.brainres.2016.11.031 DO - 10.1016/j.brainres.2016.11.031 ID - Trilck2017 ER - TY - JOUR AU - Efthymiou, A. G. AU - Steiner, J. AU - Pavan, W. J. AU - Wincovitch, S. AU - Larson, D. M. AU - Porter, F. D. PY - 2015 DA - 2015// TI - Rescue of an in Vitro Neuron Phenotype Identified in Niemann-pick disease, type C1 induced Pluripotent stem cell-derived neurons by modulating the WNT pathway and calcium signaling JO - Stem Cells Transl Med VL - 4 UR - https://doi.org/10.5966/sctm.2014-0127 DO - 10.5966/sctm.2014-0127 ID - Efthymiou2015 ER - TY - JOUR AU - Maetzel, D. AU - Sarkar, S. AU - Wang, H. AU - Abi-Mosleh, L. AU - Xu, P. AU - Cheng, A. W. PY - 2014 DA - 2014// TI - 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 JO - Stem Cell Reports VL - 2 UR - https://doi.org/10.1016/j.stemcr.2014.03.014 DO - 10.1016/j.stemcr.2014.03.014 ID - Maetzel2014 ER - TY - JOUR AU - Yu, T. AU - Lieberman, A. P. AU - Haldar, K. PY - 2013 DA - 2013// TI - Npc1 acting in neurons and Glia is essential for the formation and maintenance of CNS myelin JO - PLoS Genet VL - 9 UR - https://doi.org/10.1371/journal.pgen.1003462 DO - 10.1371/journal.pgen.1003462 ID - Yu2013 ER - TY - STD TI - Margiotta A, Bucci C. Role of Intermediate Filaments in Vesicular Traffic. Cells 2016. doi:10.3390/cells5020020. ID - ref32 ER - TY - JOUR AU - Coulombe, P. A. AU - Wong, P. PY - 2004 DA - 2004// TI - Cytoplasmic intermediate filaments revealed as dynamic and multipurpose scaffolds JO - Nat Cell Biol VL - 6 UR - https://doi.org/10.1038/ncb0804-699 DO - 10.1038/ncb0804-699 ID - Coulombe2004 ER - TY - JOUR AU - Eriksson, J. E. AU - He, T. AU - Trejo-Skalli, A. V. AU - Harmala-Brasken, A. -. S. AU - Hellman, J. AU - Chou, Y. -. H. AU - Goldman, R. D. PY - 2004 DA - 2004// TI - Specific in vivo phosphorylation sites determine the assembly dynamics of vimentin intermediate filaments JO - J Cell Sci VL - 117 UR - https://doi.org/10.1242/jcs.00906 DO - 10.1242/jcs.00906 ID - Eriksson2004 ER - TY - JOUR AU - Ivaska, J. AU - Vuoriluoto, K. AU - Huovinen, T. AU - Izawa, I. AU - Inagaki, M. AU - Parker, P. J. PY - 2005 DA - 2005// TI - PKCepsilon-mediated phosphorylation of vimentin controls integrin recycling and motility JO - EMBO J VL - 24 UR - https://doi.org/10.1038/sj.emboj.7600847 DO - 10.1038/sj.emboj.7600847 ID - Ivaska2005 ER - TY - JOUR AU - Snider, N. T. AU - Omary, M. B. PY - 2014 DA - 2014// TI - Post-translational modifications of intermediate filament proteins: mechanisms and functions JO - Nat Rev Mol Cell Biol VL - 15 UR - https://doi.org/10.1038/nrm3753 DO - 10.1038/nrm3753 ID - Snider2014 ER - TY - JOUR AU - Walter, M. AU - Chen, F. W. AU - Tamari, F. AU - Wang, R. AU - Ioannou, Y. A. PY - 2009 DA - 2009// TI - Endosomal lipid accumulation in NPC1 leads to inhibition of PKC, hypophosphorylation of vimentin and Rab9 entrapment JO - BiolCell VL - 101 ID - Walter2009 ER - TY - JOUR AU - Tamari, F. AU - Chen, F. W. AU - Li, C. AU - Chaudhari, J. AU - Ioannou, Y. A. PY - 2013 DA - 2013// TI - PKC activation in Niemann pick C1 cells restores subcellular cholesterol transport JO - PLoS One VL - 8 UR - https://doi.org/10.1371/journal.pone.0074169 DO - 10.1371/journal.pone.0074169 ID - Tamari2013 ER - TY - JOUR AU - Manders, E. M. M. AU - Verbeek, F. J. AU - Aten, J. A. PY - 1993 DA - 1993// TI - Measurement of co-localization of objects in dual-colour confocal images JO - J Microsc VL - 169 UR - https://doi.org/10.1111/j.1365-2818.1993.tb03313.x DO - 10.1111/j.1365-2818.1993.tb03313.x ID - Manders1993 ER - TY - JOUR AU - Costes, S. V. AU - Daelemans, D. AU - Cho, E. H. AU - Dobbin, Z. AU - Pavlakis, G. AU - Lockett, S. PY - 2004 DA - 2004// TI - Automatic and quantitative measurement of protein-protein colocalization in live cells JO - Biophys J VL - 86 UR - https://doi.org/10.1529/biophysj.103.038422 DO - 10.1529/biophysj.103.038422 ID - Costes2004 ER - TY - JOUR AU - Schneider, C. A. AU - Rasband, W. S. AU - Eliceiri, K. W. PY - 2012 DA - 2012// TI - NIH image to ImageJ: 25 years of image analysis JO - Nat Methods VL - 9 UR - https://doi.org/10.1038/nmeth.2089 DO - 10.1038/nmeth.2089 ID - Schneider2012 ER - TY - JOUR AU - Bolte, S. AU - Cordelieres, F. P. PY - 2006 DA - 2006// TI - A guided tour into subcellular colocalization analysis in light microscopy JO - JMicrosc VL - 224 UR - https://doi.org/10.1111/j.1365-2818.2006.01706.x DO - 10.1111/j.1365-2818.2006.01706.x ID - Bolte2006 ER - TY - JOUR AU - Hawes, C. M. AU - Wiemer, H. AU - Krueger, S. R. AU - Karten, B. PY - 2010 DA - 2010// TI - Pre-synaptic defects of NPC1-deficient hippocampal neurons are not directly related to plasma membrane cholesterol JO - J Neurochem VL - 114 ID - Hawes2010 ER - TY - JOUR AU - Nunes, M. J. AU - Moutinho, M. AU - Gama, M. J. AU - Rodrigues, C. M. P. AU - Rodrigues, E. PY - 2013 DA - 2013// TI - Histone deacetylase inhibition decreases cholesterol levels in neuronal cells by modulating key genes in cholesterol synthesis, uptake and efflux JO - PLoS One VL - 8 UR - https://doi.org/10.1371/journal.pone.0053394 DO - 10.1371/journal.pone.0053394 ID - Nunes2013 ER - TY - JOUR AU - Li, J. AU - Deffieu, M. S. AU - Lee, P. L. AU - Saha, P. AU - Pfeffer, S. R. PY - 2015 DA - 2015// TI - Glycosylation inhibition reduces cholesterol accumulation in NPC1 protein-deficient cells JO - Proc Natl Acad Sci U S A VL - 112 UR - https://doi.org/10.1073/pnas.1520490112 DO - 10.1073/pnas.1520490112 ID - Li2015 ER - TY - JOUR AU - Tängemo, C. AU - Weber, D. AU - Theiss, S. AU - Mengel, E. AU - Runz, H. PY - 2011 DA - 2011// TI - Niemann-pick type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage JO - J Lipid Res VL - 52 UR - https://doi.org/10.1194/jlr.P013524 DO - 10.1194/jlr.P013524 ID - Tängemo2011 ER - TY - JOUR AU - Toprak, M. AU - Noory, M. A. AU - Robertson, G. P. PY - 2017 DA - 2017// TI - Effect of lysosomotropic molecules on cellular homeostasis JO - Pharmacol Res VL - 117 UR - https://doi.org/10.1016/j.phrs.2016.12.021 DO - 10.1016/j.phrs.2016.12.021 ID - Toprak2017 ER - TY - JOUR AU - Marchetti, B. AU - L’episcopo, F. AU - Morale, M. C. AU - Tirolo, C. AU - Testa, N. AU - Caniglia, S. PY - 2013 DA - 2013// TI - Uncovering novel actors in astrocyte-neuron crosstalk in Parkinson’s disease: the Wnt/beta-catenin signaling cascade as the common final pathway for neuroprotection and self-repair JO - Eur J Neurosci VL - 37 UR - https://doi.org/10.1111/ejn.12166 DO - 10.1111/ejn.12166 ID - Marchetti2013 ER - TY - JOUR AU - Pekny, M. AU - Nilsson, M. PY - 2005 DA - 2005// TI - Astrocyte activation and reactive gliosis JO - Glia VL - 50 UR - https://doi.org/10.1002/glia.20207 DO - 10.1002/glia.20207 ID - Pekny2005 ER - TY - JOUR AU - Suzuki, H. AU - Sakiyama, T. AU - Harada, N. AU - Abe, M. AU - Tadokoro, M. PY - 2003 DA - 2003// TI - Pathologic changes of glial cells in murine model of Niemann-pick disease type C: immunohistochemical, lectin-histochemical and ultrastructural observations JO - Pediatr Int VL - 45 UR - https://doi.org/10.1046/j.1442-200X.2003.01651.x DO - 10.1046/j.1442-200X.2003.01651.x ID - Suzuki2003 ER - TY - JOUR AU - Levin, E. C. AU - Acharya, N. K. AU - Sedeyn, J. C. AU - Venkataraman, V. AU - D’Andrea, M. R. AU - Wang, H. Y. AU - Nagele, R. G. PY - 2009 DA - 2009// TI - Neuronal expression of vimentin in the Alzheimer’s disease brain may be part of a generalized dendritic damage-response mechanism JO - Brain Res VL - 1298 UR - https://doi.org/10.1016/j.brainres.2009.08.072 DO - 10.1016/j.brainres.2009.08.072 ID - Levin2009 ER - TY - JOUR AU - Cogli, L. AU - Progida, C. AU - Bramato, R. AU - Bucci, C. PY - 1833 DA - 1833// TI - Vimentin phosphorylation and assembly are regulated by the small GTPase Rab7a JO - Biochim Biophys Acta VL - 2013 ID - Cogli1833 ER - TY - JOUR AU - Lowery, J. AU - Jain, N. AU - Kuczmarski, E. R. AU - Mahammad, S. AU - Goldman, A. AU - Gelfand, V. I. PY - 2016 DA - 2016// TI - Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts JO - Mol Biol Cell VL - 27 UR - https://doi.org/10.1091/mbc.E15-09-0627 DO - 10.1091/mbc.E15-09-0627 ID - Lowery2016 ER - TY - JOUR AU - Chen, F. W. AU - Li, C. AU - Ioannou, Y. A. PY - 2010 DA - 2010// TI - Cyclodextrin induces calcium-dependent lysosomal exocytosis JO - PLoS One VL - 5 UR - https://doi.org/10.1371/journal.pone.0015054 DO - 10.1371/journal.pone.0015054 ID - Chen2010 ER - TY - JOUR AU - Xu, M. AU - Liu, K. AU - Swaroop, M. AU - Porter, F. D. AU - Sidhu, R. AU - Firnkes, S. PY - 2012 DA - 2012// TI - Delta-Tocopherol reduces lipid accumulation in Niemann-pick type C1 and Wolman cholesterol storage disorders JO - J Biol Chem VL - 287 UR - https://doi.org/10.1074/jbc.M112.357707 DO - 10.1074/jbc.M112.357707 ID - Xu2012 ER - TY - JOUR AU - Santos, D. C. AU - Silva, G. C. AU - Andrade, C. V. AU - Daitx, V. V. AU - Costa, M. V. AU - Rohden, F. AU - Coelho, J. C. PY - 2015 DA - 2015// TI - Effect of u18666a on beta-glucosidase, sphingomyelinase, and beta-galactosidase activities in astrocytes of young rats JO - J Membr Biol VL - 248 UR - https://doi.org/10.1007/s00232-014-9761-x DO - 10.1007/s00232-014-9761-x ID - Santos2015 ER - TY - JOUR AU - Copetti-Santos, D. AU - Moraes, V. AU - Weiler, D. F. AU - Mello, A. S. AU - FdS, M. AU - Marinho, J. P. PY - 2015 DA - 2015// TI - U18666A treatment results in cholesterol accumulation, reduced Na(+), K(+)-ATPase activity, and increased oxidative stress in rat cortical Astrocytes JO - Lipids VL - 50 UR - https://doi.org/10.1007/s11745-015-4062-4 DO - 10.1007/s11745-015-4062-4 ID - Copetti-Santos2015 ER - TY - JOUR AU - Karten, B. AU - Peake, K. B. AU - Vance, J. E. PY - 2009 DA - 2009// TI - Mechanisms and consequences of impaired lipid trafficking in Niemann-pick type C1-deficient mammalian cells JO - Biochim Biophys Acta VL - 1791 UR - https://doi.org/10.1016/j.bbalip.2009.01.025 DO - 10.1016/j.bbalip.2009.01.025 ID - Karten2009 ER - TY - JOUR AU - Ko, D. C. AU - Milenkovic, L. AU - Beier, S. M. AU - Manuel, H. AU - Buchanan, J. AU - Scott, M. P. PY - 2005 DA - 2005// TI - Cell-autonomous death of cerebellar purkinje neurons with autophagy in Niemann-pick type C disease JO - PLoS Genet VL - 1 UR - https://doi.org/10.1371/journal.pgen.0010081 DO - 10.1371/journal.pgen.0010081 ID - Ko2005 ER - TY - JOUR AU - Yu, T. AU - Shakkottai, V. G. AU - Chung, C. AU - Lieberman, A. P. PY - 2011 DA - 2011// TI - Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration JO - Hum Mol Genet VL - 20 UR - https://doi.org/10.1093/hmg/ddr372 DO - 10.1093/hmg/ddr372 ID - Yu2011 ER - TY - JOUR AU - Elrick, M. J. AU - Pacheco, C. D. AU - Yu, T. AU - Dadgar, N. AU - Shakkottai, V. G. AU - Ware, C. PY - 2010 DA - 2010// TI - Conditional Niemann-pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration JO - Hum Mol Genet VL - 19 UR - https://doi.org/10.1093/hmg/ddp552 DO - 10.1093/hmg/ddp552 ID - Elrick2010 ER - TY - JOUR AU - Lopez, M. E. AU - Scott, M. P. PY - 2013 DA - 2013// TI - Genetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-pick disease type C JO - Dis Model Mech VL - 6 UR - https://doi.org/10.1242/dmm.012385 DO - 10.1242/dmm.012385 ID - Lopez2013 ER - TY - JOUR AU - Zhang, M. AU - Strnatka, D. AU - Donohue, C. AU - Hallows, J. L. AU - Vincent, I. AU - Erickson, R. P. PY - 2008 DA - 2008// TI - Astrocyte-only Npc1 reduces neuronal cholesterol and triples life span of Npc1−/− mice JO - J Neurosci Res VL - 86 UR - https://doi.org/10.1002/jnr.21730 DO - 10.1002/jnr.21730 ID - Zhang2008 ER - TY - JOUR AU - Kapur, R. AU - Donohue, C. AU - Jelinek, D. AU - Erickson, R. P. PY - 2009 DA - 2009// TI - Amelioration of enteric neuropathology in a mouse model of Niemann-pick C by Npc1 expression in enteric glia JO - J Neurosci Res VL - 87 UR - https://doi.org/10.1002/jnr.22126 DO - 10.1002/jnr.22126 ID - Kapur2009 ER - TY - JOUR AU - Borbon, I. AU - Totenhagen, J. AU - Fiorenza, M. T. AU - Canterini, S. AU - Ke, W. AU - Trouard, T. AU - Erickson, R. P. PY - 2012 DA - 2012// TI - Niemann-pick C1 mice, a model of “juvenile Alzheimer’s disease”, with normal gene expression in neurons and fibrillary astrocytes show long term survival and delayed neurodegeneration JO - J Alzheimers Dis VL - 30 ID - Borbon2012 ER -