Current and future therapies for Niemann–Pick C disease

Bibliography

• Vanier MT. Niemann-pick disease type C. Orphanet J Rare Dis 2010;5:5-16
   PubMed Web of Science ®Google Scholar
• Millat G, Chikh K, Naureckiene S, et al. Niemann-pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Am J Hum Genet 2001;69:1013-21
   PubMed Web of Science ®Google Scholar
• Sleat DE, Wiseman JA, El-Banna M, et al. Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. Proc Natl Acad Sci USA 2004;101:5886-91
   PubMed Web of Science ®Google Scholar
• Storch J, Xu Z. Niemann-pick C2 (NPC2) and intracellular cholesterol trafficking. Biochim Biophys Acta 2009;1791:671-8
   PubMed Web of Science ®Google Scholar
• Vanier MT, Millat G. Niemann-pick disease type C. Clin Genet 2003;64:269-81
   PubMed Web of Science ®Google Scholar
• Lloyd-Evans E, Morgan AJ, He X, et al. Niemann-pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med 2008;14:1247-55
   PubMed Web of Science ®Google Scholar
• Patterson MC, Vanier MT, Suzuki K, et al. Niemann–pick disease type C: a lipid trafficking disorder. In: Beaudet AL, Scriver CR, Sly WS, et al. editors. The metabolic and molecular bases of Inherited disease. McGraw-Hill; New York: 2001. p. 3611-33
   Google Scholar
• Vance JE. Lipid imbalance in the neurological disorder, niemann-pick C disease. FEBS Lett 2006;580:5518-24
   PubMed Web of Science ®Google Scholar
• Amritraj A, Wang Y, Revett TJ, et al. Role of cathepsin D in U18666A-induced neuronal cell death: potential implication in niemann-pick type C disease pathogenesis. J Biol Chem 2013;288:3136-52
   PubMed Web of Science ®Google Scholar
• Wraith JE, Guffon N, Rohrbach M, et al. Natural history of niemann-pick disease type C in a multicentre observational retrospective cohort study. Mol Genet Metab 2009;98:250-4
   PubMed Web of Science ®Google Scholar
• Patterson MC, Hendriksz CJ, Walterfang M, et al. Recommendations for the diagnosis and management of niemann-pick disease type C: an update. Mol Genet Metab 2012;106:330-44
   PubMed Web of Science ®Google Scholar
• Porter FD, Scherrer DE, Lanier MH, et al. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for niemann-pick C1 disease. Sci Transl Med 2010;2:56ra81
   PubMed Web of Science ®Google Scholar
• Jiang X, Sidhu R, Porter FD, et al. A sensitive and specific LC-MS/MS method for rapid diagnosis of niemann-pick C1 disease from human plasma. J Lipid Res 2011;52:1435-45
   PubMed Web of Science ®Google Scholar
• Bauer P, Balding DJ, Klunemann HH, et al. Genetic screening for niemann-pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. Hum Mol Genet 2013; [Epub ahead of print]
   Web of Science ®Google Scholar
• Wraith JE, Imrie J. New therapies in the management of niemann-pick type C disease: clinical utility of miglustat. Ther Clin Risk Manag 2009;5:877-87
   PubMedGoogle Scholar
• Wraith JE, Sedel F, Pineda M, et al. Niemann-pick type C suspicion index tool: analyses by age and association of manifestations. J Inherit Metab Dis 2013; [Epub ahead of print]
   Web of Science ®Google Scholar
• Sevin M, Lesca G, Baumann N, et al. The adult form of niemann-pick disease type C. Brain 2007;130(Pt 1):120-33
   PubMed Web of Science ®Google Scholar
• Patterson MC, Mengel E, Wijburg FA, et al. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis 2013;8:73
   Web of Science ®Google Scholar
• Patterson MC, Platt F. Therapy of niemann-pick disease, type C. Biochim Biophys Acta 2004;1685:77-82
   PubMed Web of Science ®Google Scholar
• Perez-Poyato MS, Pineda M. New agents and approaches to treatment in niemann-pick type C disease. Curr Pharm Biotechnol 2011;12:897-901
   PubMed Web of Science ®Google Scholar
• Butters TD, Dwek RA, Platt FM. Inhibition of glycosphingolipid biosynthesis: application to lysosomal storage disorders. Chem Rev 2000;100:4683-96
   PubMed Web of Science ®Google Scholar
• Zervas M, Somers KL, Thrall MA, et al. Critical role for glycosphingolipids in niemann-pick disease type C. Curr Biol 2001;11:1283-7
   PubMed Web of Science ®Google Scholar
• Nietupski JB, Pacheco JJ, Chuang WL, et al. Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann-Pick C mice. Mol Genet Metab 2012;105(4):621-8
   PubMed Web of Science ®Google Scholar
• Stein VM, Crooks A, Ding W, et al. Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C. J Neuropathol Exp Neurol 2012;71(5):434-48
   PubMed Web of Science ®Google Scholar
• Lachmann RH, te Vruchte D, Lloyd-Evans E, et al. Treatment with miglustat reverses the lipid-trafficking defect in niemann-pick disease type C. Neurobiol Dis 2004;16:654-8
   PubMed Web of Science ®Google Scholar
• Patterson MC, Vecchio D, Prady H, et al. Miglustat for treatment of niemann-pick C disease: a randomised controlled study. Lancet Neurol 2007;6:765-72
   PubMed Web of Science ®Google Scholar
• Wraith JE, Vecchio D, Jacklin E, et al. Miglustat in adult and juvenile patients with niemann-pick disease type C: long-term data from a clinical trial. Mol Genet Metab 2010;99:351-7
   PubMed Web of Science ®Google Scholar
• Galanaud D, Tourbah A, Lehericy S, et al. 24 month-treatment with miglustat of three patients with niemann-pick disease type C: follow up using brain spectroscopy. Mol Genet Metab 2009;96:55-8
   PubMed Web of Science ®Google Scholar
• Heron B, Valayannopoulos V, Baruteau J, et al. Miglustat therapy in the french cohort of paediatric patients with niemann-pick disease type C. Orphanet J Rare Dis 2012;7:36
   PubMed Web of Science ®Google Scholar
• Pineda M, Wraith JE, Mengel E, et al. Miglustat in patients with niemann-pick disease type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab 2009;98:243-9
   PubMed Web of Science ®Google Scholar
• Chien YH, Lee NC, Tsai LK, et al. Treatment of niemann-pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. J Inherit Metab Dis 2007;30:826
   PubMed Web of Science ®Google Scholar
• Santos ML, Raskin S, Telles DS, et al. Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil. J Inherit Metab Dis 2008;31:S357-61
   Web of Science ®Google Scholar
• Jamrozik Z, Szczudlik P, Lugowska A, et al. A case report of 'variant' biochemical phenotype of niemann-pick C disease and a discussion of therapeutic options. Neurol Neurochir Pol 2013;47:86-9
   PubMed Web of Science ®Google Scholar
• Patterson MC, Vecchio D, Jacklin E, et al. Long-term miglustat therapy in children with niemann-pick disease type C. J Child Neurol 2010;25:300-5
   PubMed Web of Science ®Google Scholar
• Pineda M, Perez-Poyato MS, O'Callaghan M, et al. Clinical experience with miglustat therapy in pediatric patients with niemann-pick disease type C: a case series. Mol Genet Metab 2010;99:358-66
   PubMed Web of Science ®Google Scholar
• Skorpen J, Helland IB, Tennoe B. Use of miglustat in a child with late-infantile-onset niemann-pick disease type C and frequent seizures: a case report. J Med Case Rep 2012;6:383
   PubMedGoogle Scholar
• Karimzadeh P, Tonekaboni SH, Ashrafi MR, et al. Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: iranian pediatric case series. J Child Neurol 2012; [Epub ahead of print]
   PubMed Web of Science ®Google Scholar
• Chien YH, Peng SF, Yang CC, et al. Long-term efficacy of miglustat in paediatric patients with niemann-pick disease type C. J Inherit Metab Dis 2013;36:129-37
   PubMed Web of Science ®Google Scholar
• Di Rocco M, Dardis A, Madeo A, et al. Early miglustat therapy in infantile niemann-pick disease type C. Pediatr Neurol 2012;47:40-3
   PubMed Web of Science ®Google Scholar
• Perez-Poyato MS, Gordo MM, Marfa MP. Initiation and discontinuation of substrate inhibitor treatment in patients with niemann-pick type C disease. Gene 2012;506:207-10
   PubMed Web of Science ®Google Scholar
• Walterfang M, Fietz M, Fahey M, et al. The neuropsychiatry of niemann-pick type C disease in adulthood. J Neuropsychiatry Clin Neurosci 2006;18:158-70
   PubMed Web of Science ®Google Scholar
• Amiri M, Naim HY. Miglustat-induced intestinal carbohydrate malabsorption is due to the inhibition of alpha-glucosidases, but not beta-galactosidases. J Inherit Metab Dis 2012;35:949-54
   PubMed Web of Science ®Google Scholar
• Champion H, Ramaswami U, Imrie J, et al. Dietary modifications in patients receiving miglustat. J Inherit Metab Dis 2010;33(Suppl 3):379-83
   Google Scholar
• Belmatoug N, Burlina A, Giraldo P, et al. Gastrointestinal disturbances and their management in miglustat-treated patients. J Inherit Metab Dis 2011;34:991-1001
   PubMed Web of Science ®Google Scholar
• Mattsson N, Zetterberg H, Bianconi S, et al. Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in niemann-pick type C. JIMD Rep 2012;3:45-52
   PubMedGoogle Scholar
• Fu R, Yanjanin NM, Bianconi S, et al. Oxidative stress in niemann-pick disease, type C. Mol Genet Metab 2010;101:214-18
   PubMed Web of Science ®Google Scholar
• Ribas GS, Pires R, Coelho JC, et al. Oxidative stress in niemann-pick type C patients: a protective role of N-butyl-deoxynojirimycin therapy. Int J Dev Neurosci 2012;30:439-44
   PubMed Web of Science ®Google Scholar
• Ramirez CM, Liu B, Taylor AM, et al. Weekly cyclodextrin administration normalizes cholesterol metabolism in nearly every organ of the niemann-pick type C1 mouse and markedly prolongs life. Pediatr Res 2010;68:309-15
   PubMed Web of Science ®Google Scholar
• Davidson CD, Ali NF, Micsenyi MC, et al. Chronic cyclodextrin treatment of murine niemann-pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS One 2009;4:e6951
   PubMed Web of Science ®Google Scholar
• Liu B, Ramirez CM, Miller AM, et al. Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid. J Lipid Res 2010;51:933-44
   PubMed Web of Science ®Google Scholar
• Loftsson T, Brewster ME. Pharmaceutical applications of cyclodextrins: basic science and product development. J Pharm Pharmacol 2010;62:1607-21
   PubMed Web of Science ®Google Scholar
• Pontikis CC, Davidson CD, Walkley SU, et al. Cyclodextrin alleviates neuronal storage of cholesterol in niemann-pick C disease without evidence of detectable blood-brain barrier permeability. J Inherit Metab Dis 2013;36:491-8
   PubMed Web of Science ®Google Scholar
• Wehrmann ZT, Hulett TW, Huegel KL, et al. Quantitative comparison of the efficacy of various compounds in lowering intracellular cholesterol levels in niemann-pick type C fibroblasts. PLoS One 2012;7:e48561
   Web of Science ®Google Scholar
• Liu B, Turley SD, Burns DK, et al. Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse. Proc Natl Acad Sci USA 2009;106:2377-82
   PubMed Web of Science ®Google Scholar
• Lloyd-Evans E, Morgan AJ, He X, et al. Niemann-pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med 2008;14:1247-55
   PubMed Web of Science ®Google Scholar
• Alvarez AR, Klein A, Castro J, et al. Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of niemann-pick type C disease. FASEB J 2008;22:3617-27
   PubMed Web of Science ®Google Scholar
• Yevenes LF, Klein A, Castro JF, et al. Lysosomal vitamin E accumulation in niemann-pick type C disease. Biochim Biophys Acta 2012;1822:150-60
   PubMed Web of Science ®Google Scholar
• Xu M, Liu K, Swaroop M, et al. W. α-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem 2012;287(47):39349-60
   PubMed Web of Science ®Google Scholar
• Bascunan-Castillo EC, Erickson RP, Howison CM, et al. Tamoxifen and vitamin E treatments delay symptoms in the mouse model of Niemann–Pick C. J Appl Genet 2004;45(4):461-7
   PubMedGoogle Scholar
• Fu R, Wassif CA, Yanjanin NM, et al. Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1. Hum Mol Genet 2013; [Epub ahead of print]
   Web of Science ®Google Scholar
• Pipalia NH, Cosner CC, Huang A, et al. Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts. Proc Natl Acad Sci USA 2011;108:5620-5
   PubMed Web of Science ®Google Scholar
• Munkacsi AB, Chen FW, Brinkman MA, et al. An “Exacerbate-reverse” strategy in yeast identifies histone deacetylase inhibition as a correction for cholesterol and sphingolipid transport defects in human Niemann-Pick type C disease. J Biol Chem 2011;286:23842-51
   PubMed Web of Science ®Google Scholar
• Zampieri S, Bembi B, Rosso N, et al. Treatment of human fibroblasts carrying NPC1 missense mutations with MG132 leads to an improvement of intracellular cholesterol trafficking. JIMD Rep 2012;2:59-69
   PubMedGoogle Scholar
• Mellon SH, Gong W, Schonemann MD. Endogenous and synthetic neurosteroids in treatment of niemann-pick type C disease. Brain Res Rev 2008;57:410-20
   PubMedGoogle Scholar
• Borbon IA, Hillman Z, Duran E Jr. Lack of efficacy of curcumin on neurodegeneration in the mouse model of niemann-pick C1. Pharmacol Biochem Behav 2012;101:125-31
   PubMed Web of Science ®Google Scholar
• Smith D, Wallom KL, Williams IM, et al. Beneficial effects of anti-inflammatory therapy in a mouse model of niemann-pick disease type C1. Neurobiol Dis 2009;36:242-51
   PubMed Web of Science ®Google Scholar