Oxidative stress: A pathogenic mechanism for Niemann-Pick type C disease

Oxidative Medicine and Cellular Longevity

Volumn , Issue , 2012, Pages

  Vázquez, Mary Carmen ^a   Balboa, Elisa ^a   Alvarez, Alejandra R ^b   Zanlungo, Silvana ^a,c  

^a PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^b PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^c FONDAP Center for Genome Regulation (CGR)   (Chile)

Author keywords

[No Author keywords available]

Indexed keywords

BIOCHEMISTRY; CELL DEATH; CHOLESTEROL; MITOCHONDRIA;

ACCUMULATION OF VITAMIN E; ANTIOXIDANT ENZYME; ENDOCYTIC PATHWAYS; INTRACELLULAR CHOLESTEROL; MITOCHONDRIAL DYSFUNCTION; NIEMANN-PICK TYPE C; OXIDATIVE STRESS MARKERS; PATHOGENIC MECHANISMS;

OXIDATIVE STRESS;

ALPHA TOCOPHEROL; ANTIOXIDANT; CHOLESTEROL;

ANTIOXIDANT ACTIVITY; BRAIN NECROSIS; CELL DEATH; ENDOSOME; HUMAN; LIPID OXIDATION; LIPID STORAGE; LIVER NECROSIS; LYSOSOME; MITOCHONDRION; NIEMANN PICK DISEASE; NONHUMAN; OXIDATIVE STRESS; PATHOGENESIS; REVIEW;

MUS;

EID: 84874482064     PISSN: 19420900     EISSN: 19420994     Source Type: Journal    
DOI: 10.1155/2012/205713     Document Type: Review

References (125)

1. Patterson M. C., Vanier M. T., Suzuki K., Scriver C. R., Sly W. S., Valle D., Niemann-Pick disease type C. A lipid trafficking disorder The Metabolic and Molecular Basis of Inherited Disease 2001 2 New York, NY, USA Mulencer Hill
2. Liscum L., Klansek J. J., Niemann-Pick disease type C Current Opinion in Lipidology 1998 9 2 131 135 (Pubitemid 28159711)
3. Liscum L., Ruggiero R. M., Faust J. R., The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts Journal of Cell Biology 1989 108 5 1625 1636 (Pubitemid 19130495)
4. Liscum L., Sturley S. L., Intracellular trafficking of Niemann-Pick C proteins 1 and 2: obligate components of subcellular lipid transport Biochimica et Biophysica Acta 2004 1685 13 22 27 (Pubitemid 39328089)
5. Lloyd-Evans E., Morgan A. J., He X., Smith D. A., Elliot-Smith E., Sillence D. J., Churchill G. C., Schuchman E. H., Galione A., Platt F. M., Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium Nature Medicine 2008 14 11 1247 1255
6. Vanier M. T., Duthel S., Rodriguez-Lafrasse C., Pentchev P., Carstea E. D., Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis American Journal of Human Genetics 1996 58 1 118 125
7. Carstea E. D., Morris J. A., Coleman K. G., Loftus S. K., Zhang D., Cummings C., Gu J., Rosenfeld M. A., Pavan W. J., Krizman D. B., Nagle J., Polymeropoulos M. H., Sturley S. L., Ioannou Y. A., Higgins M. E., Comly M., Cooney A., Brown A., Kaneski C. R., Blanchette-Mackie E. J., Dwyer N. K., Neufeld E. B., Chang T. Y., Liscum L., Strauss J. F., Ohno K., Zeigler M., Carmi R., Sokol J., Markie D., O'Neill R. R., Van Diggelen O. P., Elleder M., Patterson M. C., Brady R. O., Vanier M. T., Pentchev P. G., Tagle D. A., Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis Science 1997 277 5323 228 231 (Pubitemid 27446076)
8. Davies J. P., Ioannou Y. A., Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein The Journal of Biological Chemistry 2000 275 32 24367 24374 (Pubitemid 30626526)
9. Frolov A., Srivastava K., Daphna-Iken D., Traub L. M., Schaffer J. E., Ory D. S., Cholesterol overload promotes morphogenesis of a Niemann-Pick C (NPC)-like compartment independent of inhibition of NPC1 or HE1/NPC2 function The Journal of Biological Chemistry 2001 276 49 46414 46421
10. Neufeld E. B., Wastney M., Patel S., Suresh S., Cooney A. M., Dwyer N. K., Roff C. F., Ohno K., Morris J. A., Carstea E. D., Incardona J. P., Strauss J. F., Vanier M. T., Patterson M. C., Brady R. O., Pentchev P. G., Blanchette-Mackie E. J., The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo The Journal of Biological Chemistry 1999 274 14 9627 9635
11. Zhang M., Dwyer N. K., Neufeld E. B., Love D. C., Cooney A., Comly M., Patel S., Watari H., Strauss J. F., Pentchev P. G., Hanover J. A., Blanchette-Mackie E. J., Sterol-modulated glycolipid sorting occurs in Niemann-Pick C1 late endosomes The Journal of Biological Chemistry 2001 276 5 3417 3425
12. Naureckiene S., Sleat D. E., Lacklan H., Fensom A., Vanier M. T., Wattiaux R., Jadot M., Lobel P., Identification of HE1 as the second gene of Niemann-Pick C disease Science 2000 290 5500 2298 2301 (Pubitemid 32041569)
13. Friedland N., Liou H. L., Lobel P., Stock A. M., Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease Proceedings of the National Academy of Sciences of the United States of America 2003 100 5 2512 2517 (Pubitemid 36297530)
14. Ory D. S., The Niemann-Pick disease genes: regulators of cellular cholesterol homeostasis Trends in Cardiovascular Medicine 2004 14 2 66 72 (Pubitemid 38340849)
15. Kwon H. J., Abi-Mosleh L., Wang M. L., Deisenhofer J., Goldstein J. L., Brown M. S., Infante R. E., Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol Cell 2009 137 7 1213 1224
16. Du X., Kumar J., Ferguson C., Schulz T. A., Ong Y. S., Hong W., Prinz W. A., Parton R. G., Brown A. J., Yang H., A role for oxysterol-binding protein-related protein 5 in endosomal cholesterol trafficking Journal of Cell Biology 2011 192 1 121 135
17. Wraith J. E., Baumgartner M. R., Bembi B., Covanis A., Levade T., Mengel E., Pineda M., Sedel F., Topu M., Vanier M. T., Widner H., Wijburg F. A., Patterson M. C., Recommendations on the diagnosis and management of Niemann-Pick disease type C Molecular Genetics and Metabolism 2009 98 1-2 152 165
18. Pentchev P. G. V., Vanier M. T., Suzuki K., Patterson M. C., Scriver C. R. B., Beaudet A. L., Sly W. S., Valle D., Niemann-Pick disease type C: a cellular cholesterol lipidosis The Metabolic and Molecular Bases of Inherited Disease 1995 New York, NY, USA McGraw Hill 2625 2639
19. Ory D. S., Niemann-Pick type C: a disorder of cellular cholesterol trafficking Biochimica et Biophysica Acta 2000 1529 13 331 339
20. Walkley S. U., Suzuki K., Consequences of NPC1 and NPC2 loss of function in mammalian neurons Biochimica et Biophysica Acta 2004 1685 13 48 62 (Pubitemid 39311809)
21. Vanier M. T., Niemann-Pick disease type C Orphanet Journal of Rare Diseases 2010 5 1 16
22. Adibhatla R. M., Hatcher J. F., Altered lipid metabolism in brain injury and disorders Sub-Cellular Biochemistry 2008 49 241 268
23. Dringen R., Metabolism and functions of glutathione in brain Progress in Neurobiology 2000 62 6 649 671 (Pubitemid 30407139)
24. Zampieri S., Mellon S. H., Butters T. D., Nevyjel M., Covey D. F., Bembi B., Dardis A., Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone Journal of Cellular and Molecular Medicine 2009 13 9 B 3786 3796
25. Smith D., Wallom K. L., Williams I. M., Jeyakumar M., Platt F. M., Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1 Neurobiology of Disease 2009 36 2 242 251
26. Klein A., Maldonado C., Vargas L. M., Gonzalez M., Robledo F., Perez de Arce K., Muoz F. J., Hetz C., Alvarez A. R., Zanlungo S., Oxidative stress activates the c-Abl/p73 proapoptotic pathway in Niemann-Pick type C neurons Neurobiology of Disease 2011 41 1 209 218
27. Alvarez A. R., Sandoval P. C., Leal N. R., Castro P. U., Kosik K. S., Activation of the neuronal c-Abl tyrosine kinase by amyloid- -peptide and reactive oxygen species Neurobiology of Disease 2004 17 2 326 336 (Pubitemid 39345788)
28. Liscum L., Faust J. R., The intracellular transport of low density lipoprotein-derived cholesterol is inhibited in Chinese hamster ovary cells cultured with 3- -[2-(diethylamino)ethoxy]androst-5-en-17-one The Journal of Biological Chemistry 1989 264 20 11796 11806 (Pubitemid 19185347)
29. Sparrow S. M., Carter J. M., Ridgway N. D., Cook H. W., Byers D. M., U18666A inhibits intracellular cholesterol transport and neurotransmitter release in human neuroblastoma cells Neurochemical Research 1999 24 1 69 77 (Pubitemid 29067778)
30. Koh C. H. V., Whiteman M., Li Q. X., Halliwell B., Jenner A. M., Boon S. W., Laughton K. M., Wenk M., Masters C. L., Beart P. M., Bernard O., Nam S. C., Chronic exposure to U18666A is associated with oxidative stress in cultured murine cortical neurons Journal of Neurochemistry 2006 98 4 1278 1289 (Pubitemid 44127801)
31. Beltroy E. P., Richardson J. A., Horton J. D., Turley S. D., Dietschy J. M., Cholesterol accumulation and liver cell death in mice with Niemann-Pick type C disease Hepatology 2005 42 4 886 893 (Pubitemid 41401127)
32. Beltroy E. P., Liu B., Dietschy J. M., Turley S. D., Lysosomal unesterified cholesterol content correlates with liver cell death in murine Niemann-Pick type C disease Journal of Lipid Research 2007 48 4 869 881 (Pubitemid 46557892)
33. Garver W. S., Jelinek D., Oyarzo J. N., Flynn J., Zuckerman M., Krishnan K., Chung B. H., Heidenreich R. A., Characterization of liver disease and lipid metabolism in the Niemann-Pick C1 mouse Journal of Cellular Biochemistry 2007 101 2 498 516 (Pubitemid 46705306)
34. Vzquez M. C., del Pozo T., Robledo F. A., Carrasco G., Pavez L., Olivares F., Gonzlez M., Zanlungo S., Alteration of gene expression profile in Niemann-Pick type C mice correlates with tissue damage and oxidative stress PLoS ONE 2011 6 12
35. Fu R., Yanjanin N. M., Bianconi S., Pavan W. J., Porter F. D., Oxidative stress in Niemann-Pick disease, type C Molecular Genetics and Metabolism 2010 101 2-3 214 218
36. Porter F. D., Scherrer D. E., Lanier M. H., Langmade S. J., Molugu V., Gale S. E., Olzeski D., Sidhu R., Dietzen D. J., Fu R., Wassif C. A., Yanjanin N. M., Marso S. P., House J., Vite C., Schaffer J. E., Ory D. S., Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease Science Translational Medicine 2010 2 56
37. Reddy J. V., Ganley I. G., Pfeffer S. R., Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling PLoS ONE 2006 1 1, article e19
38. De Windt A., Rai M., Kytmki L., Thelen K. M., Ltjohann D., Bernier L., Davignon J., Soini J., Pandolfo M., Laaksonen R., Gene set enrichment analyses revealed several affected pathways in Niemann-Pick disease type C fibroblasts DNA and Cell Biology 2007 26 9 665 671
39. Tsutsui H., Kinugawa S., Matsushima S., Mitochondrial oxidative stress and dysfunction in myocardial remodelling Cardiovascular Research 2009 81 3 449 456
40. Mantena S. K., King A. L., Andringa K. K., Eccleston H. B., Bailey S. M., Mitochondrial dysfunction and oxidative stress in the pathogenesis of alcohol- and obesity-induced fatty liver diseases Free Radical Biology and Medicine 2008 44 7 1259 1272
41. Urtasun R., de la Rosa L. C., Nieto N., Oxidative and nitrosative stress and fibrogenic response Clinics in Liver Disease 2008 12 4 769 790
42. Reddy P. H., Role of mitochondria in neurodegenerative diseases: mitochondria as a therapeutic target in Alzheimer's disease CNS Spectrums 2009 14 8, supplement 7 8 13
43. Querfurth H. W., LaFerla F. M., Alzheimer's disease The New England Journal of Medicine 2010 362 4 329 344
44. Yu H., Liu J., Li J., Zang T., Luo G., Shen J., Protection of mitochondrial integrity from oxidative stress by selenium-containing glutathione transferase Applied Biochemistry and Biotechnology 2005 127 2 133 142 (Pubitemid 41567071)
45. Yu W., Gong J. S., Ko M., Garver W. S., Yanagisawa K., Michikawa M., Altered cholesterol metabolism in Niemann-Pick type C1 mouse brains affects mitochondrial function The Journal of Biological Chemistry 2005 280 12 11731 11739 (Pubitemid 40418487)
46. Mar M., Caballero F., Colell A., Morales A., Caballeria J., Fernandez A., Enrich C., Fernandez-Checa J. C., Garca-Ruiz C., Mitochondrial free cholesterol loading sensitizes to TNF- and Fas-mediated steatohepatitis Cell Metabolism 2006 4 3 185 198 (Pubitemid 44307975)
47. Charman M., Kennedy B. E., Osborne N., Karten B., MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein Journal of Lipid Research 2010 51 5 1023 1034
48. Fernndez A., Llacuna L., Fernndez-Checa J. C., Colell A., Mitochondrial cholesterol loading exacerbates amyloid peptide-induced inflammation and neurotoxicity Journal of Neuroscience 2009 29 20 6394 6405
49. Lucken-Ardjomande S., Montessuit S., Martinou J. C., Bax activation and stress-induced apoptosis delayed by the accumulation of cholesterol in mitochondrial membranes Cell Death and Differentiation 2008 15 3 484 493 (Pubitemid 351267299)
50. Pacheco C. D., Lieberman A. P., The pathogenesis of Niemann-Pick type C disease: a role for autophagy? Expert Reviews in Molecular Medicine 2008 10 e26
51. Ishibashi S., Yamazaki T., Okamoto K., Association of autophagy with cholesterol-accumulated compartments in Niemann-Pick disease type C cells Journal of Clinical Neuroscience 2009 16 7 954 959
52. Colell A., Garca-Ruiz C., Morales A., Ballesta A., Ookhtens M., Rodés J., Kaplowitz N., Fernndez-Checa J. C., Transport of reduced glutathione in hepatic mitochondria and mitoplasts from ethanol-treated rats: effect of membrane physical properties and S- adenosyl-L-methionine Hepatology 1997 26 3 699 708 (Pubitemid 27392362)
53. Fernandez-Checa J. C., Kaplowitz N., Hepatic mitochondrial glutathione: transport and role in disease and toxicity Toxicology and Applied Pharmacology 2005 204 3 263 273 (Pubitemid 40545231)
54. Mar M., Morales A., Colell A., Garca-Ruiz C., Fernndez-Checa J. C., Mitochondrial glutathione, a key survival antioxidant Antioxidants and Redox Signaling 2009 11 11 2685 2700
55. Bonekamp N. A., Vlkl A., Fahimi H. D., Schrader M., Reactive oxygen species and peroxisomes: struggling for balance BioFactors 2009 35 4 346 355
56. Schedin S., Sindelar P. J., Pentchev P., Brunk U., Dallner G., Peroxisomal impairment in Niemann-Pick type C disease The Journal of Biological Chemistry 1997 272 10 6245 6251 (Pubitemid 27118096)
57. Sequeira J. S. S., Vellodi A., Vanier M. T., Clayton P. T., Niemann-Pick disease type C and defective peroxisomal -oxidation of branched-chain substrates Journal of Inherited Metabolic Disease 1998 21 2 149 154 (Pubitemid 28156175)
58. Schedin S., Pentchev P., Dallner G., Reduced cholesterol accumulation and improved deficient peroxisomal functions in a murine model of Niemann-Pick type C disease upon treatment with peroxisomal proliferators Biochemical Pharmacology 1998 56 9 1195 1199 (Pubitemid 28511243)
59. Cao C., Leng Y., Kufe D., Catalase activity is regulated by c-Abl and Arg in the oxidative stress response The Journal of Biological Chemistry 2003 278 32 29667 29675 (Pubitemid 36962352)
60. Cao C., Leng Y., Liu X., Yi Y., Li P., Kufe D., Catalase is regulated by ubiquitination and proteosomal degradation. Role of the c-Abl and Arg tyrosine kinases Biochemistry 2003 42 35 10348 10353 (Pubitemid 37071434)
61. Rhee S. G., Yang K. S., Kang S. W., Woo H. A., Chang T. S., Controlled elimination of intracellular H 2 O 2: regulation of peroxiredoxin, catalase, and glutathione peroxidase via post-translational modification Antioxidants and Redox Signaling 2005 7 5-6 619 626 (Pubitemid 40563199)
62. Alvarez A. R., Klein A., Castro J., Cancino G. I., Amigo J., Mosqueira M., Vargas L. M., Yévenes L. F., Bronfman F. C., Zanlungo S., Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann-Pick type C disease The FASEB Journal 2008 22 10 3617 3627
63. Burton G. W., Traber M. G., Vitamin E: antioxidant activity, biokinetics, and bioavailability Annual Review of Nutrition 1990 10 357 382
64. Burton G. W., Ingold K. U., Vitamin E as an in vitro and in vivo antioxidant Annals of the New York Academy of Sciences 1989 570 7 22 (Pubitemid 20103380)
65. Dickinson D. A., Forman H. J., Glutathione in defense and signaling: lessons from a small thiol Annals of the New York Academy of Sciences 2002 973 488 504 (Pubitemid 36131049)
66. Rigotti A., Absorption, transport, and tissue delivery of vitamin E Molecular Aspects of Medicine 2007 28 5-6 423 436 (Pubitemid 47625528)
67. Maher P., The effects of stress and aging on glutathione metabolism Ageing Research Reviews 2005 4 2 288 314 (Pubitemid 41114862)
68. Yévenes L. F., Klein A., Castro J. F., Lysosomal vitamin E accumulation in Niemann-Pick type C disease Biochimica et Biophysica 2011 1822 2 150 160
69. Ulatowski L., Parker R., Davidson C., Yanjanin N., Kelley T. J., Corey D., Atkinson J., Porter F., Arai H., Walkley S. U., Manor D., Altered vitamin E status in Niemann-Pick type C disease Journal of Lipid Research 2011 52 7 1400 1410
70. Serra S. A., Ill-Raga G., Coma M., Matthew W. B., The role of vitamin E on intracellular signaling pathways in brain: molecular basis for the treatment of neurodegenerative processes Vitamin E: New Research 2006 New York, NY, USA Nova Science
71. Copp R. P., Wisniewski T., Hentati F., Larnaout A., Ben Hamida M., Kayden H. J., Localization of -tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disorders Brain Research 1999 822 1-2 80 87 (Pubitemid 29222832)
72. Gould T. J., Chadman K., Bickford P. C., Antioxidant protection of cerebellar -adrenergic receptor function in aged F344 rats Neuroscience Letters 1998 250 3 165 168 (Pubitemid 28355803)
73. Heaton M. B., Mitchell J. J., Paiva M., Amelioration of ethanol-induced neurotoxicity in the neonatal rat central nervous system by antioxidant therapy Alcoholism 2000 24 4 512 518 (Pubitemid 30244250)
74. Narushima K., Takada T., Yamanashi Y., Suzuki H., Niemann-Pick C1-like 1 mediates -tocopherol transport Molecular Pharmacology 2008 74 1 42 49 (Pubitemid 351872157)
75. Azzi A., Ricciarelli R., Zingg J. M., Non-antioxidant molecular functions of -tocopherol (vitamin E) FEBS Letters 2002 519 13 8 10 (Pubitemid 34521983)
76. Ekstrand-Hammarstrm B., sterlund C., Lilliehk B., Bucht A., Vitamin E down-modulates mitogen-activated protein kinases, nuclear factor- B and inflammatory responses in lung epithelial cells Clinical and Experimental Immunology 2007 147 2 359 369 (Pubitemid 46096015)
77. Mustacich D. J., Leonard S. W., Patel N. K., Traber M. G., -tocopherol -oxidation localized to rat liver mitochondria Free Radical Biology and Medicine 2010 48 1 73 81
78. Upston J. M., Terentis A. C., Stocker R., Tocopherol-mediated peroxidation of lipoproteins: implications for vitamin E as a potential antiatherogenic supplement The FASEB Journal 1999 13 9 977 994 (Pubitemid 29249724)
79. Bascuan-Castillo E. C., Erickson R. P., Howison C. M., Hunter R. J., Heidenreich R. H., Hicks C., Trouard T. P., Gillies R. J., Tamoxifen and vitamin E treatments delay symptoms in the mouse model of Niemann-Pick C Journal of Applied Genetics 2004 45 4 461 467 (Pubitemid 39643735)
80. Quintanilla R. A., Muoz F. J., Metcalfe M. J., Hitschfeld M., Olivares G., Godoy J. A., Inestrosa N. C., Trolox and 17 -estradiol protect against amyloid -peptide neurotoxicity by a mechanism that involves modulation of the Wnt signaling pathway The Journal of Biological Chemistry 2005 280 12 11615 11625 (Pubitemid 40418475)
81. Griffin L. D., Gong W., Verot L., Mellon S. H., Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone Nature Medicine 2004 10 7 704 711 (Pubitemid 38937635)
82. Zampieri S., Mellon S. H., Butters T. D., Nevyjel M., Covey D. F., Bembi B., Dardis A., Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone Journal of Cellular and Molecular Medicine 2009 13 9 B 3786 3796
83. Balogun E., Hoque M., Gong P., Killeen E., Green C. J., Foresti R., Alam J., Motterlini R., Curcumin activates the haem oxygenase-1 gene via regulation of Nrf2 and the antioxidant-responsive element Biochemical Journal 2003 371 part 3 887 895 (Pubitemid 36578887)
84. Vitner E. B., Platt F. M., Futerman A. H., Common and uncommon pathogenic cascades in lysosomal storage diseases The Journal of Biological Chemistry 2010 285 27 20423 20427
85. Lloyd-Evans E., Platt F. M., Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease Traffic 2010 11 4 419 428
86. Lachmann R. H., te Vruchte D., Lloyd-Evans E., Reinkensmeier G., Sillence D. J., Fernandez-Guillen L., Dwek R. A., Butters T. D., Cox T. M., Platt F. M., Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C Neurobiology of Disease 2004 16 3 654 658 (Pubitemid 38942998)
87. Fu R., Yanjanin N. M., Bianconi S., Pavan W. J., Porter F. D., Oxidative stress in Niemann-Pick disease, type C Molecular Genetics and Metabolism 2010 101 2-3 214 218
88. Cao C., Leng Y., Huang W., Liu X., Kufe D., Glutathione peroxidase 1 is regulated by the c-Abl and Arg tyrosine kinases The Journal of Biological Chemistry 2003 278 41 39609 39614 (Pubitemid 37248520)
89. Crack P. J., Taylor J. M., Flentjar N. J., De Haan J., Hertzog P., Iannello R. C., Kola I., Increased infarct size and exacerbated apoptosis in the glutathione peroxidase-1 (Gpx-1) knockout mouse brain in response to ischemia/reperfusion injury Journal of Neurochemistry 2001 78 6 1389 1399 (Pubitemid 32899770)
90. Guix F. X., Ill-Raga G., Bravo R., Nakaya T., De Fabritiis G., Coma M., Miscione G. P., Vill-Freixa J., Suzuki T., Fernndez-Busquets X., Valverde M. A., De Strooper B., Muoz F. J., Amyloid-dependent triosephosphate isomerase nitrotyrosination induces glycation and tau fibrillation Brain 2009 132 5 1335 1345
91. Kim S. J., Lim M. S., Kang S. K., Lee Y. S., Kang K. S., Impaired functions of neural stem cells by abnormal nitric oxide-mediated signaling in an in vitro model of Niemann-Pick type C disease Cell Research 2008 18 6 686 694
92. German D. C., Quintero E. M., Liang C. L., Xie C., Dietschy J. M., Degeneration of neurons and glia in the Niemann-Pick C mouse is unrelated to the low-density lipoprotein receptor Neuroscience 2001 105 4 999 1005 (Pubitemid 32786812)
93. Mani K., Cheng F., Fransson L., Constitutive and vitamin C-induced, NO-catalyzed release of heparan sulfate from recycling glypican-1 in late endosomes Glycobiology 2006 16 12 1251 1261 (Pubitemid 44815237)
94. Yanagimoto C., Harada M., Kumemura H., Abe M., Koga H., Sakata M., Kawaguchi T., Terada K., Hanada S., Taniguchi E., Ninomiya H., Ueno T., Sugiyama T., Sata M., Copper incorporation into ceruloplasmin is regulated by Niemann-Pick C1 protein Hepatology Research 2011 41 5 484 491
95. Yanagimoto C., Harada M., Kumemura H., Koga H., Kawaguchi T., Terada K., Hanada S., Taniguchi E., Koizumi Y., Koyota S., Ninomiya H., Ueno T., Sugiyama T., Sata M., Niemann-Pick C1 protein transports copper to the secretory compartment from late endosomes where ATP7B resides Experimental Cell Research 2009 315 2 119 126
96. Uauy R., Olivares M., Gonzalez M., Essentiality of copper in humans American Journal of Clinical Nutrition 1998 67 supplement 5 952S 959S (Pubitemid 28198816)
97. Barnham K. J., Bush A. I., Metals in Alzheimer's and Parkinson's diseases Current Opinion in Chemical Biology 2008 12 2 222 228
98. Gaggelli E., Kozlowski H., Valensin D., Valensin G., Copper homeostasis and neurodegenerative disorders (Alzheimer's, prion, and Parkinson's diseases and amyotrophic lateral sclerosis) Chemical Reviews 2006 106 6 1995 2044
99. Kaler S. G., Menkes disease Advances in pediatrics 1994 41 263 304
100. Langner C., Denk H., Wilson disease Virchows Archiv 2004 445 2 111 118 (Pubitemid 39215541)
101. Linder M. C., Biochemistry of Copper 1991 New York, NY, USA Plenum Press
102. Mercer J. F. B., Llanos R. M., Molecular and cellular aspects of copper transport in developing mammals Journal of Nutrition 2003 133 5, supplement 1 1481S 1484S (Pubitemid 36548731)
103. Zhang J. R., Coleman T., Langmade S. J., Scherrer D. E., Lane L., Lanier M. H., Feng C., Sands M. S., Schaffer J. E., Semenkovich C. F., Ory D. S., Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking Journal of Clinical Investigation 2008 118 6 2281 2290 (Pubitemid 351872345)
104. Tint G. S., Pentchev P., Xu G., Batta A. K., Shefer S., Salen G., Honda A., Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype Journal of Inherited Metabolic Disease 1998 21 8 853 863 (Pubitemid 28558682)
105. Lund E. G., Bjrkhem I., Role of oxysterols in the regulation of cholesterol homeostasis: a critical evaluation 1 Accounts of Chemical Research 1995 28 6 241 249
106. Royer M. C., Lemaine-Ewing S., Desrumaux C., Monier S., de Barros J. P. P., Athias A., Néel D., Lagrost L., 7-ketocholesterol incorporation into sphingolipid/cholesterol-enriched (Lipid Raft) domains is impaired by vitamin E. A specific role for -tocopherol with consequences on cell death The Journal of Biological Chemistry 2009 284 23 15826 15834
107. Vejux A., Guyot S., Montange T., Riedinger J. M., Kahn E., Lizard G., Phospholipidosis and down-regulation of the PI3-K/PDK-1/Akt signalling pathway are vitamin E inhibitable events associated with 7-ketocholesterol-induced apoptosis Journal of Nutritional Biochemistry 2009 20 1 45 61
108. Pérez-Poyato M. S., Pineda M., New agents and approaches to treatment in Niemann-Pick type C disease Current Pharmaceutical Biotechnology 2011 12 6 897 901
109. Sturleya S. L., Pattersonb M. C., Pentchevc P., Unraveling the sterol-trafficking defect in Niemann-Pick C disease Proceedings of the National Academy of Sciences of the United States of America 2009 106 7 2093 2094
110. Wang M. S., Boddapati S., Sierks M. R., Cyclodextrins promote protein aggregation posing risks for therapeutic applications Biochemical and Biophysical Research Communications 2009 386 3 526 531
111. Vance J. E., Peake K. B., Function of the Niemann-Pick type C proteins and their bypass by cyclodextrin Current Opinion in Lipidology 2011 22 3 204 209
112. Liu B., Turley S. D., Burns D. K., Miller A. M., Repa J. J., Dietschy J. M., Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1 -/- mouse Proceedings of the National Academy of Sciences of the United States of America 2009 106 7 2377 2382
113. Muralidhar A., Borbon I. A., Esharif D. M., Ke W., Manacheril R., Daines M., Erickson R. P., Pulmonary function and pathology in hydroxypropyl-beta- cyclodextin-treated and untreated npc1 -/- mice Molecular Genetics and Metabolism 2011 103 2 142 147
114. Rodriguez-Hernandez A., Cordero M. D., Salviati L., Artuch R., Pineda M., Briones P., Izquierdo L. G., Cotn D., Navas P., Snchez-Alczar J. A., Coenzyme Q deficiency triggers mitochondria degradation by mitophagy Autophagy 2009 5 1 19 32
115. Arakawa M., Ito Y., N-acetylcysteine and neurodegenerative diseases: basic and clinical pharmacology Cerebellum 2007 6 4 308 314 (Pubitemid 350179062)
116. Atkuri K. R., Mantovani J. J., Herzenberg L. A., Herzenberg L. A., N-Acetylcysteine-a safe antidote for cysteine/glutathione deficiency Current Opinion in Pharmacology 2007 7 4 355 359 (Pubitemid 47289259)
117. Dodd S., Dean O., Copolov D. L., Malhi G. S., Berk M., N-acetylcysteine for antioxidant therapy: pharmacology and clinical utility Expert Opinion on Biological Therapy 2008 8 12 1955 1962
118. Aitio M. L., N-acetylcysteinepasse-partout or much ado about nothing? British Journal of Clinical Pharmacology 2006 61 1 5 15
119. Chen Q., Prior M., Dargusch R., Roberts A., Riek R., Eichmann C., Chiruta C., Akaishi T., Abe K., Maher P., Schubert D., A novel neurotrophic drug for cognitive enhancement and Alzheimer's disease PLoS ONE 2011 6 12
120. Capdeville R., Buchdunger E., Zimmermann J., Matter A., Glivec (ST1571, imatinib), a rationally developed, targeted anticancer drug Nature Reviews Drug Discovery 2002 1 7 493 502
121. Druker B. J., Tamura S., Buchdunger E., Ohno S., Segal G. M., Fanning S., Zimmermann J., Lydon N. B., Effects of a selective inhibitor of the Ab1 tyrosine kinase on the growth of Bcr-Ab1 positive cells Nature Medicine 1996 2 5 561 566
122. Patterson M. C., Vecchio D., Prady H., Abel L., Wraith J. E., Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study The Lancet Neurology 2007 6 9 765 772 (Pubitemid 47238662)
123. Galanaud D., Tourbah A., Lehéricy S., Leveque N., Heron B., Billette de Villemeur T., Guffon N., Feillet F., Baumann N., Vanier M. T., Sedel F., 24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy Molecular Genetics and Metabolism 2009 96 2 55 58
124. Wraith J. E., Vecchio D., Jacklin E., Abel L., Chadha-Boreham H., Luzy C., Giorgino R., Patterson M. C., Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial Molecular Genetics and Metabolism 2010 99 4 351 357
125. Wraith J. E., Imrie J., New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat Therapeutics and Clinical Risk Management 2009 5 1 877 887