Oxidative stress in Niemann-Pick disease, type C.

[1]  M. Patterson,et al.  Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C , 2010, Journal of child neurology.

[2]  Joseph L. Goldstein,et al.  Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol , 2009, Cell.

[3]  A. Colell,et al.  Mitochondrial Cholesterol Loading Exacerbates Amyloid β Peptide-Induced Inflammation and Neurotoxicity , 2009, The Journal of Neuroscience.

[4]  R. Cenedella Cholesterol Synthesis Inhibitor U18666A and the Role of Sterol Metabolism and Trafficking in Numerous Pathophysiological Processes , 2009, Lipids.

[5]  W. Pavan,et al.  Linear clinical progression, independent of age of onset, in Niemann–Pick disease, type C , 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[6]  G. Enns,et al.  Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia , 2009, Proceedings of the National Academy of Sciences.

[7]  J. Cooper,et al.  Coenzyme Q10 and vitamin E deficiency in Friedreich’s ataxia: predictor of efficacy of vitamin E and coenzyme Q10 therapy , 2008, European journal of neurology.

[8]  M. Beal,et al.  Mitochondrial biology and oxidative stress in Parkinson disease pathogenesis , 2008, Nature Clinical Practice Neurology.

[9]  A. Galione,et al.  Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium , 2008, Nature Medicine.

[10]  B. Bembi,et al.  Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone , 2008, Journal of cellular and molecular medicine.

[11]  D. Ory,et al.  Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking. , 2008, The Journal of clinical investigation.

[12]  N. Okudan,et al.  Coenzyme Q(10) and alpha-lipoic acid supplementation in diabetic rats: conduction velocity distributions. , 2008, Methods and Findings in Experimental and Clinical Pharmacology.

[13]  S. Gale,et al.  Niemann-Pick Type C1 I1061T Mutant Encodes a Functional Protein That Is Selected for Endoplasmic Reticulum-associated Degradation Due to Protein Misfolding* , 2008, Journal of Biological Chemistry.

[14]  J. Dingemanse,et al.  Influence of Food Intake on the Pharmacokinetics of Miglustat, an Inhibitor of Glucosylceramide Synthase , 2007, Journal of clinical pharmacology.

[15]  M. Patterson,et al.  Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study , 2007, The Lancet Neurology.

[16]  A. Colell,et al.  Mitochondrial free cholesterol loading sensitizes to TNF- and Fas-mediated steatohepatitis. , 2006, Cell metabolism.

[17]  D. Galati,et al.  Accumulation of Amyloid Precursor Protein in the Mitochondrial Import Channels of Human Alzheimer’s Disease Brain Is Associated with Mitochondrial Dysfunction , 2006, The Journal of Neuroscience.

[18]  M. Rogero,et al.  Free radical scavenger and antioxidant capacity correlation of α-tocopherol and Trolox measured by three in vitro methodologies , 2006, International journal of food sciences and nutrition.

[19]  JoAnn Buchanan,et al.  Cell-Autonomous Death of Cerebellar Purkinje Neurons with Autophagy in Niemann-Pick Type C Disease , 2005, PLoS genetics.

[20]  M. Michikawa,et al.  Altered Cholesterol Metabolism in Niemann-Pick Type C1 Mouse Brains Affects Mitochondrial Function* , 2005, Journal of Biological Chemistry.

[21]  K. Okamoto,et al.  An increase of oxidized coenzyme Q-10 occurs in the plasma of sporadic ALS patients , 2005, Journal of the Neurological Sciences.

[22]  Mushfiquddin Khan,et al.  A Novel Role of Lactosylceramide in the Regulation of Lipopolysaccharide/Interferon-γ-Mediated Inducible Nitric Oxide Synthase Gene Expression: Implications for Neuroinflammatory Diseases , 2004, The Journal of Neuroscience.

[23]  S. Mellon,et al.  Niemann–Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone , 2004, Nature Medicine.

[24]  M. V. Miles,et al.  Clinical laboratory monitoring of coenzyme Q10 use in neurologic and muscular diseases. , 2004, American journal of clinical pathology.

[25]  R. Mayeux,et al.  A comparison of family history of psychiatric disorders among patients with early- and late-onset Alzheimer's disease. , 2004, The Journal of neuropsychiatry and clinical neurosciences.

[26]  Danielle A. Simmons,et al.  Postnatal development of inflammation in a murine model of Niemann–Pick type C disease: immunohistochemical observations of microglia and astroglia , 2003, Experimental Neurology.

[27]  M. Vanier Niemann-Pick disease type C , 2010, Orphanet journal of rare diseases.

[28]  M. Gondré-Lewis,et al.  Cholesterol Accumulation in NPC1-Deficient Neurons Is Ganglioside Dependent , 2003, Current Biology.

[29]  J. Crowley,et al.  NPC1 and NPC2 Regulate Cellular Cholesterol Homeostasis through Generation of Low Density Lipoprotein Cholesterol-derived Oxysterols* , 2003, Journal of Biological Chemistry.

[30]  Ann M Stock,et al.  Structure of a cholesterol-binding protein deficient in Niemann–Pick type C2 disease , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[31]  Ole A. Andreassen,et al.  Therapeutic Effects of Coenzyme Q10 and Remacemide in Transgenic Mouse Models of Huntington's Disease , 2002, The Journal of Neuroscience.

[32]  S. Walkley,et al.  Critical role for glycosphingolipids in Niemann-Pick disease type C , 2001, Current Biology.

[33]  H. Ninomiya,et al.  [Niemann-Pick disease type C]. , 2001, Nihon rinsho. Japanese journal of clinical medicine.

[34]  R. Wattiaux,et al.  Identification of HE1 as the second gene of Niemann-Pick C disease. , 2000, Science.

[35]  Yiannis A. Ioannou,et al.  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* , 2000, The Journal of Biological Chemistry.

[36]  M. Hüttemann,et al.  Mitochondrial energy metabolism is regulated via nuclear-coded subunits of cytochrome c oxidase. , 2000, Free radical biology & medicine.

[37]  K. G. Coleman,et al.  Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. , 1997, Science.

[38]  G. Dallner,et al.  Peroxisomal Impairment in Niemann-Pick Type C Disease* , 1997, The Journal of Biological Chemistry.

[39]  L. Landi,et al.  The role of DT-diaphorase in the maintenance of the reduced antioxidant form of coenzyme Q in membrane systems. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[40]  U. Hellman,et al.  Muscarinic toxins from the black mamba Dendroaspis polylepis. , 1995, European journal of biochemistry.

[41]  J. Cleary,et al.  Prevention of Tocopherol-mediated Peroxidation in Ubiquinol-10-free Human Low Density Lipoprotein (*) , 1995, The Journal of Biological Chemistry.

[42]  R. Brady,et al.  The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol. , 1994, Biochimica et biophysica acta.

[43]  O. Gabrielli,et al.  Coenzyme Q10 and oxidative imbalance in Down syndrome: Biochemical and clinical aspects , 2008, BioFactors.

[44]  R. Proia,et al.  Apoptosis accompanied by up-regulation of TNF-alpha death pathway genes in the brain of Niemann-Pick type C disease. , 2005, Molecular genetics and metabolism.

[45]  Y. Yamamoto,et al.  Plasma ratio of ubiquinol and ubiquinone as a marker of oxidative stress. , 1997, Molecular aspects of medicine.

[46]  C. Walling,et al.  Autoxidation of lipids and antioxidation by alpha-tocopherol and ubiquinol in homogeneous solution and in aqueous dispersions of lipids: unrecognized consequences of lipid particle size as exemplified by oxidation of human low density lipoprotein. , 1993, Proceedings of the National Academy of Sciences of the United States of America.