메뉴 건너뛰기




Volumn 6, Issue 9, 2007, Pages 765-772

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

Author keywords

[No Author keywords available]

Indexed keywords

ANALGESIC AGENT; ANTIBIOTIC AGENT; ANTICONVULSIVE AGENT; ANTIDIARRHEAL AGENT; BENZODIAZEPINE DERIVATIVE; HYPNOTIC AGENT; MIGLUSTAT; SEDATIVE AGENT;

EID: 34547753513     PISSN: 14744422     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1474-4422(07)70194-1     Document Type: Article
Times cited : (511)

References (36)
  • 1
    • 0023588096 scopus 로고
    • Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts
    • Pentchev P., Comly M., Kruth H., et al. Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts. Faseb J 1 (1987) 40-45
    • (1987) Faseb J , vol.1 , pp. 40-45
    • Pentchev, P.1    Comly, M.2    Kruth, H.3
  • 2
    • 4944230810 scopus 로고    scopus 로고
    • Intracellular trafficking of Niemann-Pick C proteins 1 and 2: obligate components of subcellular lipid transport
    • Liscum L., and Sturley S. Intracellular trafficking of Niemann-Pick C proteins 1 and 2: obligate components of subcellular lipid transport. Biochim Biophys Acta 1685 (2004) 22-27
    • (2004) Biochim Biophys Acta , vol.1685 , pp. 22-27
    • Liscum, L.1    Sturley, S.2
  • 3
    • 0033361755 scopus 로고    scopus 로고
    • Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype
    • Millat G., Marcais C., Rafi M., et al. Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype. Am J Hum Genet 65 (1999) 1321-1329
    • (1999) Am J Hum Genet , vol.65 , pp. 1321-1329
    • Millat, G.1    Marcais, C.2    Rafi, M.3
  • 4
    • 0017529666 scopus 로고
    • Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes
    • Wenger D., Barth G., and Githens J. Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes. Am J Dis Child 131 (1977) 955-961
    • (1977) Am J Dis Child , vol.131 , pp. 955-961
    • Wenger, D.1    Barth, G.2    Githens, J.3
  • 5
    • 0018168776 scopus 로고
    • Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D)
    • Winsor E., and Welch J. Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D). Am J Hum Genet 30 (1978) 530-538
    • (1978) Am J Hum Genet , vol.30 , pp. 530-538
    • Winsor, E.1    Welch, J.2
  • 6
    • 0030863352 scopus 로고    scopus 로고
    • Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis
    • Carstea E., Morris J., Coleman K., et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 277 (1997) 228-231
    • (1997) Science , vol.277 , pp. 228-231
    • Carstea, E.1    Morris, J.2    Coleman, K.3
  • 7
    • 0034704245 scopus 로고    scopus 로고
    • Identification of HE1 as the second gene of Niemann-Pick C disease
    • Naureckiene S., Sleat D., Lackland H., et al. Identification of HE1 as the second gene of Niemann-Pick C disease. Science 290 (2000) 2298-2301
    • (2000) Science , vol.290 , pp. 2298-2301
    • Naureckiene, S.1    Sleat, D.2    Lackland, H.3
  • 8
    • 0035824522 scopus 로고    scopus 로고
    • Cholesterol overload promotes morphogenesis of a Niemann-Pick C (NPC)-like compartment independent of inhibition of NPC1 or HE1/NPC2 function
    • Frolov A., Srivastava K., Daphna-Iken D., Traub L., Schaffer J., and Ory D. Cholesterol overload promotes morphogenesis of a Niemann-Pick C (NPC)-like compartment independent of inhibition of NPC1 or HE1/NPC2 function. J Biol Chem 276 (2001) 46414-46421
    • (2001) J Biol Chem , vol.276 , pp. 46414-46421
    • Frolov, A.1    Srivastava, K.2    Daphna-Iken, D.3    Traub, L.4    Schaffer, J.5    Ory, D.6
  • 9
    • 2942672495 scopus 로고    scopus 로고
    • Secondary accumulation of gangliosides in lysosomal storage disorders
    • Walkley S. Secondary accumulation of gangliosides in lysosomal storage disorders. Semin Cell Dev Biol 15 (2004) 433-444
    • (2004) Semin Cell Dev Biol , vol.15 , pp. 433-444
    • Walkley, S.1
  • 10
    • 0029612229 scopus 로고
    • GM2 ganglioside and pyramidal neuron dendritogenesis
    • Walkley S., Siegel D., and Dobrenis K. GM2 ganglioside and pyramidal neuron dendritogenesis. Neurochem Res 20 (1995) 1287-1299
    • (1995) Neurochem Res , vol.20 , pp. 1287-1299
    • Walkley, S.1    Siegel, D.2    Dobrenis, K.3
  • 11
    • 33644783621 scopus 로고    scopus 로고
    • The Niemann-Pick C1 protein in recycling endosomes of presynaptic nerve terminals
    • Karten B., Campenot R., Vance D., and Vance J. The Niemann-Pick C1 protein in recycling endosomes of presynaptic nerve terminals. J Lipid Res 47 (2006) 504-514
    • (2006) J Lipid Res , vol.47 , pp. 504-514
    • Karten, B.1    Campenot, R.2    Vance, D.3    Vance, J.4
  • 12
    • 4744365602 scopus 로고    scopus 로고
    • Consequences of NPC1 and NPC2 loss of function in mammalian neurons
    • Walkley S., and Suzuki K. Consequences of NPC1 and NPC2 loss of function in mammalian neurons. Biochim Biophys Acta 1685 (2004) 48-62
    • (2004) Biochim Biophys Acta , vol.1685 , pp. 48-62
    • Walkley, S.1    Suzuki, K.2
  • 13
    • 22144436233 scopus 로고    scopus 로고
    • Niemann-Pick type C disease in two affected sisters: ocular motor recordings and brain-stem neuropathology
    • Solomon D., Winkelman A., Zee D., Gray L., and Buttner-Ennever J. Niemann-Pick type C disease in two affected sisters: ocular motor recordings and brain-stem neuropathology. Ann N Y Acad Sci 1039 (2005) 436-445
    • (2005) Ann N Y Acad Sci , vol.1039 , pp. 436-445
    • Solomon, D.1    Winkelman, A.2    Zee, D.3    Gray, L.4    Buttner-Ennever, J.5
  • 14
    • 0344875214 scopus 로고    scopus 로고
    • A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C
    • Patterson M. A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C. Neurologist 9 (2003) 301-310
    • (2003) Neurologist , vol.9 , pp. 301-310
    • Patterson, M.1
  • 15
    • 18744408505 scopus 로고    scopus 로고
    • Bipolar disorder and Niemann-Pick disease type C
    • Sullivan D., Walterfang M., and Velakoulis D. Bipolar disorder and Niemann-Pick disease type C. Am J Psychiatry 162 (2005) 1021-1022
    • (2005) Am J Psychiatry , vol.162 , pp. 1021-1022
    • Sullivan, D.1    Walterfang, M.2    Velakoulis, D.3
  • 16
    • 33646722321 scopus 로고    scopus 로고
    • The neuropsychiatry of Niemann-Pick type C disease in adulthood
    • Walterfang M., Fietz M., Fahey M., et al. The neuropsychiatry of Niemann-Pick type C disease in adulthood. J Neuropsychiatry Clin Neurosci 18 (2006) 158-170
    • (2006) J Neuropsychiatry Clin Neurosci , vol.18 , pp. 158-170
    • Walterfang, M.1    Fietz, M.2    Fahey, M.3
  • 17
    • 33745195994 scopus 로고    scopus 로고
    • Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid
    • Oyama K., Takahashi T., Shoji Y., et al. Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid. Tohoku J Exp Med 209 (2006) 263-267
    • (2006) Tohoku J Exp Med , vol.209 , pp. 263-267
    • Oyama, K.1    Takahashi, T.2    Shoji, Y.3
  • 18
    • 0000831301 scopus 로고    scopus 로고
    • Niemann-Pick disease, type C: a lipid trafficking disorder
    • Scriver C., Beaudet A., Sly W., et al. (Eds), McGraw-Hill, New York
    • Patterson M., Vanier M., Suzuki K., et al. Niemann-Pick disease, type C: a lipid trafficking disorder. In: Scriver C., Beaudet A., Sly W., et al. (Eds). The Metabolic and Molecular Bases of Inherited Disease. 8th edn. (2001), McGraw-Hill, New York 3611-3633
    • (2001) The Metabolic and Molecular Bases of Inherited Disease. 8th edn. , pp. 3611-3633
    • Patterson, M.1    Vanier, M.2    Suzuki, K.3
  • 19
    • 0030728051 scopus 로고    scopus 로고
    • Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease
    • Rottach K., von Maydell R., Das V., et al. Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease. Vision Res 37 (1997) 3627-3638
    • (1997) Vision Res , vol.37 , pp. 3627-3638
    • Rottach, K.1    von Maydell, R.2    Das, V.3
  • 20
    • 0034059243 scopus 로고    scopus 로고
    • Abnormal vertical optokinetic nystagmus in infants and children
    • Garbutt S., and Harris C. Abnormal vertical optokinetic nystagmus in infants and children. Br J Ophthalmol 84 (2000) 451-455
    • (2000) Br J Ophthalmol , vol.84 , pp. 451-455
    • Garbutt, S.1    Harris, C.2
  • 21
    • 0015548903 scopus 로고
    • A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients
    • Neville B., Lake B., Stephens R., and Sanders M. A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients. Brain 96 (1973) 97-120
    • (1973) Brain , vol.96 , pp. 97-120
    • Neville, B.1    Lake, B.2    Stephens, R.3    Sanders, M.4
  • 22
    • 4744339285 scopus 로고    scopus 로고
    • Therapy of Niemann-Pick disease, type C
    • Patterson M., and Platt F. Therapy of Niemann-Pick disease, type C. Biochim Biophys Acta 1685 (2004) 77-82
    • (2004) Biochim Biophys Acta , vol.1685 , pp. 77-82
    • Patterson, M.1    Platt, F.2
  • 24
    • 0028176432 scopus 로고
    • N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis
    • Platt F., Neises G., Dwek R., and Butters T. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem 269 (1994) 8362-8365
    • (1994) J Biol Chem , vol.269 , pp. 8362-8365
    • Platt, F.1    Neises, G.2    Dwek, R.3    Butters, T.4
  • 25
    • 33744951603 scopus 로고    scopus 로고
    • Emerging strategies for the treatment of hereditary metabolic storage disorders
    • Brady R. Emerging strategies for the treatment of hereditary metabolic storage disorders. Rejuvenation Res 9 (2006) 237-244
    • (2006) Rejuvenation Res , vol.9 , pp. 237-244
    • Brady, R.1
  • 26
    • 25144442267 scopus 로고    scopus 로고
    • Storage solutions: treating lysosomal disorders of the brain
    • Jeyakumar M., Dwek R., Butters T., and Platt F. Storage solutions: treating lysosomal disorders of the brain. Nat Rev Neurosci 6 (2005) 713-725
    • (2005) Nat Rev Neurosci , vol.6 , pp. 713-725
    • Jeyakumar, M.1    Dwek, R.2    Butters, T.3    Platt, F.4
  • 27
    • 0035928841 scopus 로고    scopus 로고
    • Critical role for glycosphingolipids in Niemann-Pick disease type C
    • Zervas M., Somers K., Thrall M., and Walkley S. Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr Biol 11 (2001) 1283-1287
    • (2001) Curr Biol , vol.11 , pp. 1283-1287
    • Zervas, M.1    Somers, K.2    Thrall, M.3    Walkley, S.4
  • 28
    • 3242741280 scopus 로고    scopus 로고
    • Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C
    • Lachmann R., te Vruchte D., Lloyd-Evans E., et al. Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiol Dis 16 (2004) 654-658
    • (2004) Neurobiol Dis , vol.16 , pp. 654-658
    • Lachmann, R.1    te Vruchte, D.2    Lloyd-Evans, E.3
  • 29
    • 0034728914 scopus 로고    scopus 로고
    • A novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
    • Cox T., Lachmann R., Hollak C., et al. A novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 355 (2000) 1481-1485
    • (2000) Lancet , vol.355 , pp. 1481-1485
    • Cox, T.1    Lachmann, R.2    Hollak, C.3
  • 30
    • 7244254360 scopus 로고    scopus 로고
    • Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease
    • Elstein D., Hollak C., Aerts J., et al. Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Metab Dis 27 (2004) 757-766
    • (2004) J Inherit Metab Dis , vol.27 , pp. 757-766
    • Elstein, D.1    Hollak, C.2    Aerts, J.3
  • 31
    • 25844512590 scopus 로고    scopus 로고
    • An open-label, noncomparative study of miglustat in Type I Gaucher disease: efficacy and tolerability over 24 months of treatment
    • Pastores G., Barnett N., and Kolodny E. An open-label, noncomparative study of miglustat in Type I Gaucher disease: efficacy and tolerability over 24 months of treatment. Clin Ther 27 (2005) 1215-1227
    • (2005) Clin Ther , vol.27 , pp. 1215-1227
    • Pastores, G.1    Barnett, N.2    Kolodny, E.3
  • 32
    • 0032611586 scopus 로고    scopus 로고
    • [Eye movement abnormalities as a sign for the diagnosis in Niemann-Pick disease type C]
    • Lengyel D., Weissert M., Schmid L., and Gottlob I. [Eye movement abnormalities as a sign for the diagnosis in Niemann-Pick disease type C]. Klin Monatsbl Augenheilkd 214 (1999) 50-52
    • (1999) Klin Monatsbl Augenheilkd , vol.214 , pp. 50-52
    • Lengyel, D.1    Weissert, M.2    Schmid, L.3    Gottlob, I.4
  • 33
    • 0022269732 scopus 로고
    • On the identification and analysis of saccadic eye movements-a quantitative study of the processing procedures
    • Inchingolo P., and Spanio M. On the identification and analysis of saccadic eye movements-a quantitative study of the processing procedures. IEEE Trans Biomed Eng 32 (1985) 683-695
    • (1985) IEEE Trans Biomed Eng , vol.32 , pp. 683-695
    • Inchingolo, P.1    Spanio, M.2
  • 35
    • 33846412228 scopus 로고    scopus 로고
    • The natural history of Niemann-Pick disease type C in the UK
    • Imrie J., Dasgupta S., Besley G., et al. The natural history of Niemann-Pick disease type C in the UK. J Inherit Metab Dis 30 (2007) 51-59
    • (2007) J Inherit Metab Dis , vol.30 , pp. 51-59
    • Imrie, J.1    Dasgupta, S.2    Besley, G.3
  • 36
    • 33947314170 scopus 로고    scopus 로고
    • The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat
    • Treiber A., Morand O., and Clozel M. The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat. Xenobiotica 37 (2007) 298-314
    • (2007) Xenobiotica , vol.37 , pp. 298-314
    • Treiber, A.1    Morand, O.2    Clozel, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.