Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/springer-journals/niemann-pick-disease-type-c1-is-a-sphingosine-storage-disease-that-alQA01yepO
References (60)
-
J. Davies, Fannie Chen, Y. Ioannou (2000)
Transmembrane molecular pump activity of Niemann-Pick C1 protein.Science, 290 5500
-
L. Liscum (2000)
Niemann–Pick Type C Mutations Cause Lipid Traffic JamTraffic, 1
-
S. Pandol, M. Schoeffield-Payne, A. Gukovskaya, Robin Rutherford (1994)
Sphingosine regulates Ca(2+)-ATPase and reloading of intracellular Ca2+ stores in the pancreatic acinar cell.Biochimica et biophysica acta, 1195 1
-
M. Taniguchi, H. Ninomiya, K. Ohno (2001)
[Niemann-Pick disease type C].Nihon rinsho. Japanese journal of clinical medicine, 53 12
-
A. Yamaji, Y. Sekizawa, K. Emoto, H. Sakuraba, Keizō Inoue, Hideshi Kobayashi, M. Umeda (1998)
Lysenin, a Novel Sphingomyelin-specific Binding Protein*The Journal of Biological Chemistry, 273
-
N. Mayran, R. Parton, J. Gruenberg (2003)
Annexin II regulates multivesicular endosome biogenesis in the degradation pathway of animal cellsThe EMBO Journal, 22
-
J. Ayala-Sanmartin, J. Henry, L. Pradel (2001)
Cholesterol regulates membrane binding and aggregation by annexin 2 at submicromolar Ca(2+) concentration.Biochimica et biophysica acta, 1510 1-2
-
Michael Maceyka, Heidi Sankala, N. Hait, H. Stunff, Hong Liu, R. Toman, Claiborne Collier, M. Zhang, L. Satin, A. Merrill, S. Milstien, S. Spiegel (2005)
SphK1 and SphK2, Sphingosine Kinase Isoenzymes with Opposing Functions in Sphingolipid Metabolism*Journal of Biological Chemistry, 280
-
R. Parkesh, Alexander Lewis, P. Aley, A. Arredouani, S. Rossi, Ricardo Tavares, S. Vasudevan, Daniel Rosen, A. Galione, J. Dowden, G. Churchill (2008)
Cell-permeant NAADP: a novel chemical tool enabling the study of Ca2+ signalling in intact cells.Cell calcium, 43 6
-
K. Christensen, Jesse Myers, J. Swanson (2002)
pH-dependent regulation of lysosomal calcium in macrophages.Journal of cell science, 115 Pt 3
-
R. Deisz, V. Meske, S. Treiber‐Held, F. Albert, T. Ohm (2005)
Pathological cholesterol metabolism fails to modify electrophysiological properties of afflicted neurones in Niemann-Pick disease type CNeuroscience, 130
-
Note: Supplementary information is available on the Nature Medicine website -
Open field analysis. We performed open-field analysis as described previously 50 -
L. Ginzburg, Yaacov Kacher, A. Futerman (2004)
The pathogenesis of glycosphingolipid storage disorders.Seminars in cell & developmental biology, 15 4
-
Xiaofeng Sun, D. Marks, W. Park, C. Wheatley, V. Puri, J. O'brien, Daniel Kraft, P. Lundquist, M. Patterson, R. Pagano, K. Snow (2001)
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.American journal of human genetics, 68 6
-
T. Yamamoto, H. Ninomiya, M. Matsumoto, Y. Ohta, E. Nanba, Y. Tsutsumi, K. Yamakawa, G. Millat, M. Vanier, P. Pentchev, K. Ohno (2000)
Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresiaJournal of Medical Genetics, 37
-
RE Infante (2008)
Purified NPC1 protein: II. Localization of sterol binding to a 240–amino acid soluble luminal loopJ. Biol. Chem., 283
-
E Houben (2006)
Differentiation-associated expression of ceramidase isoforms in cultured keratinocytes and epidermisJ. Lipid Res., 47
-
T. Ozbay, A. Rowan, A. Leon, Pritty Patel, M. Sewer (2006)
Cyclic adenosine 5'-monophosphate-dependent sphingosine-1-phosphate biosynthesis induces human CYP17 gene transcription by activating cleavage of sterol regulatory element binding protein 1.Endocrinology, 147 3
-
K. Kitatani, J. Idkowiak-Baldys, Y. Hannun (2008)
The sphingolipid salvage pathway in ceramide metabolism and signaling.Cellular signalling, 20 6
-
D. Vruchte, E. Lloyd-Evans, R. Veldman, D. Neville, R. Dwek, F. Platt, W. Blitterswijk, D. Sillence (2004)
Accumulation of Glycosphingolipids in Niemann-Pick C Disease Disrupts Endosomal Transport*Journal of Biological Chemistry, 279
-
R. Lemons, Jess Thoene (1991)
Mediated calcium transport by isolated human fibroblast lysosomes.The Journal of biological chemistry, 266 22
-
G. Churchill, Y. Okada, Justyn Thomas, A. Genazzani, S. Patel, A. Galione (2002)
NAADP mobilizes Ca(2+) from reserve granules, lysosome-related organelles, in sea urchin eggs.Cell, 111 5
-
S. Srinivas, A. Ong, Leanne Goon, Levina Goon, J. Bonanno (2002)
Lysosomal Ca(2+) stores in bovine corneal endothelium.Investigative ophthalmology & visual science, 43 7
-
D. Pelled, O. Sperling, E. Zoref‐Shani (1999)
Abnormal Purine and Pyrimidine Nucleotide Content in Primary Astroglia Cultures from Hypoxanthine—Guanine Phosphoribosyltransferase‐Deficient Transgenic MiceJournal of Neurochemistry, 72
-
Statistical analyses. All statistical analyses were performed with Prism software (Microcal) -
Published online at http://www.nature.com/naturemedicine/ Reprints and permissions information is available online at http://npg.nature.com/ reprintsandpermissions -
M. Patterson, D. Vecchio, Helena Prady, L. Abel, J. Wraith (2007)
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled studyThe Lancet Neurology, 6
-
J. Butler, M. Vanier, P. Pentchev (1993)
Niemann-Pick C disease: cystine and lipids accumulate in the murine model of this lysosomal cholesterol lipidosis.Biochemical and biophysical research communications, 196 1
-
O. Garaschuk, Y. Yaari, A. Konnerth (1997)
Release and sequestration of calcium by ryanodine‐sensitive stores in rat hippocampal neuronesThe Journal of Physiology, 502
-
M. Walter, Fannie Chen, F. Tamari, Rong Wang, Y. Ioannou (2009)
Endosomal lipid accumulation in NPC1 leads to inhibition of PKC, hypophosphorylation of vimentin and Rab9 entrapmentBiology of the Cell, 101
-
Xingxuan He, A. Dagan, S. Gatt, E. Schuchman (2005)
Simultaneous quantitative analysis of ceramide and sphingosine in mouse blood by naphthalene-2,3-dicarboxyaldehyde derivatization after hydrolysis with ceramidase.Analytical biochemistry, 340 1
-
E. Houben, W. Holleran, Toshiaki Yaginuma, C. Mao, L. Obeid, V. Rogiers, Y. Takagi, P. Elias, Y. Uchida (2006)
Differentiation-associated expression of ceramidase isoforms in cultured keratinocytes and epidermis Published, JLR Papers in Press, February 13, 2006.Journal of Lipid Research, 47
-
G. Tettamanti, R. Bassi, P. Viani, L. Riboni (2003)
Salvage pathways in glycosphingolipid metabolism.Biochimie, 85 3-4
-
R. Erickson, W. Garver, Fernando Camargo, G. Hossian, R. Heidenreich (2000)
Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann–Pick C miceJournal of Inherited Metabolic Disease, 23
-
S. Rakovic, Yi Cui, S. Iino, A. Galione, G. Ashamu, B. Potter, D. Terrar (1999)
An Antagonist of cADP-ribose Inhibits Arrhythmogenic Oscillations of Intracellular Ca2+ In Heart Cells*The Journal of Biological Chemistry, 274
-
R. Infante, A. Radhakrishnan, Lina Abi-Mosleh, L. Kinch, Michael Wang, N. Grishin, J. Goldstein, Michael Brown (2008)
Purified NPC1 ProteinJournal of Biological Chemistry, 283
-
D. Neville, Virginie Coquard, D. Priestman, Danielle Vruchte, D. Sillence, R. Dwek, F. Platt, T. Butters (2004)
Analysis of fluorescently labeled glycosphingolipid-derived oligosaccharides following ceramide glycanase digestion and anthranilic acid labeling.Analytical biochemistry, 331 2
-
M. Vanier (2003)
Niemann-Pick disease type COrphanet Journal of Rare Diseases, 5
-
We measured tremor in mice with a commercial tremor monitor (San Diego Instruments) according to the manufacturer's instructions. We monitored the mice for 256 s -
MT Vanier, G Millat (2003)
Niemann-Pick disease type CClin. Genet., 64
-
Elena Elliot-Smith, Anneliese Speak, E. Lloyd-Evans, David Smith, A. Spoel, M. Jeyakumar, T. Butters, R. Dwek, A. d’Azzo, F. Platt (2008)
Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis.Molecular genetics and metabolism, 94 2
-
J. Biwersi, N. Emans, A. Verkman (1996)
Cystic fibrosis transmembrane conductance regulator activation stimulates endosome fusion in vivo.Proceedings of the National Academy of Sciences of the United States of America, 93 22
-
G. Bach, C. Chen, R. Pagano (1999)
Elevated lysosomal pH in Mucolipidosis type IV cells.Clinica chimica acta; international journal of clinical chemistry, 280 1-2
-
Robert Piper, J. Luzio (2004)
CUPpling calcium to lysosomal biogenesis.Trends in cell biology, 14 9
-
M. Jeyakumar, R. Dwek, T. Butters, F. Platt (2005)
Storage solutions: treating lysosomal disorders of the brainNature Reviews Neuroscience, 6
-
Kyra Somers, Diane Brown, R. Fulton, P. Schultheiss, D. Hamar, Mary Smith, Robin Allison, H. Connally, C. Just, T. Mitchell, D. Wenger, M. Thrall (2001)
Effects of dietary cholesterol restriction in a feline model of Niemann–Pick type C diseaseJournal of Inherited Metabolic Disease, 24
-
S. Naureckiene, D. Sleat, D. Sleat, H. Lackland, A. Fensom, M. Vanier, R. Wattiaux, M. Jadot, P. Lobel, P. Lobel (2000)
Identification of HE1 as the second gene of Niemann-Pick C disease.Science, 290 5500
-
M. Patterson, A. Bisceglie, J. Higgins, R. Abel, R. Schiffmann, C. Parker, C. Argoff, R. Grewal, K. Yu, P. Pentchev, R. Brady, N. Barton (1993)
The effect of cholesterol‐lowering agents on hepatic and plasma cholesterol in Niemann‐Pick disease type CNeurology, 43
-
Dennis Ko, M. Gordon, J. Jin, M. Scott (2001)
Dynamic movements of organelles containing Niemann-Pick C1 protein: NPC1 involvement in late endocytic events.Molecular biology of the cell, 12 3
-
M. Patterson, F. Platt (2004)
Therapy of Niemann-Pick disease, type C.Biochimica et biophysica acta, 1685 1-3
-
M. Masson, B. Spezzatti, J. Chapman, C. Battisti, N. Baumann (1992)
Calmodulin antagonists chlorpromazine and W‐7 inhibit exogenous cholesterol esterification and sphingomyelinase activity in human skin fibroblast cultures. Similarities between drug‐induced and niemann‐pick type C lipidosesJournal of Neuroscience Research, 31
-
Yun-Ping Wu, K. Mizugishi, M. Bektas, R. Sandhoff, R. Proia (2008)
Sphingosine kinase 1/S1P receptor signaling axis controls glial proliferation in mice with Sandhoff disease.Human molecular genetics, 17 15
-
Katarina Kågedal, Mingde Zhao, I. Svensson, U. Brunk (2001)
Sphingosine-induced apoptosis is dependent on lysosomal proteases.The Biochemical journal, 359 Pt 2
-
R. Lachmann, D. Vruchte, E. Lloyd-Evans, G. Reinkensmeier, D. Sillence, L. Fernandez-Guillen, R. Dwek, T. Butters, T. Cox, F. Platt (2004)
Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type CNeurobiology of Disease, 16
-
K. Malathi, K. Higaki, A. Tinkelenberg, D. Balderes, Dorca Almanzar-Paramio, L. Wilcox, Naz Erdeniz, F. Redican, M. Padamsee, Y. Liu, Sohail Khan, Frederick Alcantara, E. Carstea, Jill Morris, S. Sturley (2004)
Mutagenesis of the putative sterol-sensing domain of yeast Niemann Pick C–related protein reveals a primordial role in subcellular sphingolipid distributionThe Journal of Cell Biology, 164
-
A. Galione, G. Churchill (2002)
Interactions between calcium release pathways: multiple messengers and multiple stores.Cell calcium, 32 5-6
-
C. Beesley, E. Young, A. Vellodi, B. Winchester (2000)
Genotype-phenotype relationship of Niemann-Pick disease type C : a possible correlation between clinical onset and levels of NPC 1 protein in isolated skin fibroblasts -
J. Babalola, M. Wendeler, Bernadette Breiden, C. Arenz, G. Schwarzmann, S. Locatelli-Hoops, K. Sandhoff (2007)
Development of an assay for the intermembrane transfer of cholesterol by Niemann-Pick C2 protein, 388
-
J. Bilmen, S. Khan, Masood‐ul‐Hassan Javed, F. Michelangeli (2001)
Inhibition of the SERCA Ca2+ pumps by curcumin. Curcumin putatively stabilizes the interaction between the nucleotide-binding and phosphorylation domains in the absence of ATP.European journal of biochemistry, 268 23
- Publisher
- Springer Journals
- Copyright
- Copyright © 2008 by Nature Publishing Group
- Subject
- Biomedicine; Biomedicine, general; Cancer Research; Metabolic Diseases; Infectious Diseases; Molecular Medicine; Neurosciences
- ISSN
- 1078-8956
- eISSN
- 1546-170X
- DOI
- 10.1038/nm.1876
- Publisher site
- See Article on Publisher Site
Abstract
Niemann-Pick type C1 is a lysosomal storage disease caused by mutations in the NPC1 gene. The authors show that NPC1 regulates calcium levels in the lysosome, and calcium dysregulation could be the proximal event in inducing the accumulation of lipids that characterizes the disease.
Journal
Nature Medicine – Springer Journals
Published: Oct 26, 2008