메뉴 건너뛰기




Volumn 9, Issue , 2015, Pages 4639-4647

Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease

Author keywords

Eliglustat tartrate; Gaucher disease; Glucocerebrosidase; Glucosylceramide synthase; Substrate reduction therapy

Indexed keywords

ELIGLUSTAT; MIGLUSTAT; CERAMIDE GLUCOSYLTRANSFERASE; CYTOCHROME P450 2D6; ENZYME INHIBITOR; GLUCOSYLCERAMIDE; GLUCOSYLTRANSFERASE; PYRROLIDINE DERIVATIVE;

EID: 84981531896     PISSN: None     EISSN: 11778881     Source Type: Journal    
DOI: 10.2147/DDDT.S77760     Document Type: Review
Times cited : (34)

References (77)
  • 1
    • 33748980122 scopus 로고    scopus 로고
    • Epidemiology and natural history of Gaucher’s disease
    • Mehta A. Epidemiology and natural history of Gaucher’s disease. Eur J Intern Med. 2006;17: S2-S5.
    • (2006) Eur J Intern Med , vol.17 , pp. S2-S5
    • Mehta, A.1
  • 2
    • 84867369035 scopus 로고    scopus 로고
    • An evidence-based review of the potential benefits of taliglucerase alfa in the treatment of patients with Gaucher disease
    • Hollak CE. An evidence-based review of the potential benefits of taliglucerase alfa in the treatment of patients with Gaucher disease. Core Evid. 2012;7: 15-20.
    • (2012) Core Evid , vol.7 , pp. 15-20
    • Hollak, C.E.1
  • 3
    • 82255179519 scopus 로고    scopus 로고
    • Therapeutic approaches to bone pathology in Gaucher disease: Past, present and future
    • Goker-Alpan O. Therapeutic approaches to bone pathology in Gaucher disease: past, present and future. Mol Genet Metab. 2011;104: 438-447.
    • (2011) Mol Genet Metab , vol.104 , pp. 438-447
    • Goker-Alpan, O.1
  • 4
    • 0023911180 scopus 로고
    • Reactions of vessel walls and brain parenchyma to the accumulation of Gaucher cells in the Norrbottnian type (type III) of Gaucher disease
    • Conradi NG, Kalimo H, Sourander P. Reactions of vessel walls and brain parenchyma to the accumulation of Gaucher cells in the Norrbottnian type (type III) of Gaucher disease. Acta Neuropathol. 1988;75: 385-390.
    • (1988) Acta Neuropathol , vol.75 , pp. 385-390
    • Conradi, N.G.1    Kalimo, H.2    Sourander, P.3
  • 5
    • 2342571710 scopus 로고    scopus 로고
    • Gaucher disease: Lessons from a decade of therapy
    • Grabowski GA. Gaucher disease: lessons from a decade of therapy. J Pediatr. 2004;144: S15-S19.
    • (2004) J Pediatr , vol.144 , pp. S15-S19
    • Grabowski, G.A.1
  • 6
    • 0020526134 scopus 로고
    • Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies
    • Barneveld RA, Keijzer W, Tegelaers FP, et al. Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies. Hum Genet. 1983;64: 227-231.
    • (1983) Hum Genet , vol.64 , pp. 227-231
    • Barneveld, R.A.1    Keijzer, W.2    Tegelaers, F.P.3
  • 7
    • 0038100163 scopus 로고    scopus 로고
    • Biochemistry of glycosphingolipid storage disorders: Implications for therapeutic intervention
    • Aerts JM, Hollak C, Boot R, Groener A. Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention. Philos Tran R Soc Lond B Biol Sci. 2003;358: 905-914.
    • (2003) Philos Tran R Soc Lond B Biol Sci , vol.358 , pp. 905-914
    • Aerts, J.M.1    Hollak, C.2    Boot, R.3    Groener, A.4
  • 8
    • 4244206245 scopus 로고    scopus 로고
    • Available from:, Accessed June 8, 2015
    • Pastores GM, Hughes DA. Gaucher disease. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1269/?report. Accessed June 8, 2015.
    • Gaucher disease
    • Pastores, G.M.1    Hughes, D.A.2
  • 9
    • 78650826302 scopus 로고    scopus 로고
    • Lipid storage diseases
    • Lichtman MA, Kipps T, Seligsohn U, Kaushansky K, Prchal JT, editors, 8th ed. New York, NY, USA: McGraw-Hill
    • Zimran A, Elstein D. Lipid storage diseases. In: Lichtman MA, Kipps T, Seligsohn U, Kaushansky K, Prchal JT, editors. Williams Hematology. 8th ed. New York, NY, USA: McGraw-Hill; 2010.
    • (2010) Williams Hematology
    • Zimran, A.1    Elstein, D.2
  • 10
    • 84930481254 scopus 로고    scopus 로고
    • Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups
    • Lee JY, Lee BH, Kim GH, et al. Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups. Korean J Pediatr. 2012;55: 48-53.
    • (2012) Korean J Pediatr , vol.55 , pp. 48-53
    • Lee, J.Y.1    Lee, B.H.2    Kim, G.H.3
  • 11
    • 70249092205 scopus 로고    scopus 로고
    • Recommendations on diagnosis, treatment, and monitoring for Gaucher disease
    • Martins AM, Valadares ER, Porta G, et al. Recommendations on diagnosis, treatment, and monitoring for Gaucher disease. J Pediatr. 2009;155: S10-S18.
    • (2009) J Pediatr , vol.155 , pp. S10-S18
    • Martins, A.M.1    Valadares, E.R.2    Porta, G.3
  • 12
    • 84981494392 scopus 로고    scopus 로고
    • Available from:, Accessed June 1, 2015
    • National Gaucher Foundation Inc. Available from: http://www.gaucherdisease.org/. Accessed June 1, 2015.
  • 13
    • 4244206245 scopus 로고    scopus 로고
    • Available from:, Accessed June 1, 2015
    • National Organization of Rare Disorders. Gaucher disease. Available from: http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewFullReport. Accessed June 1, 2015.
    • Gaucher disease
  • 14
    • 0033730925 scopus 로고    scopus 로고
    • Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease
    • Altarescu G, Schiffmann R, Parker CC, et al. Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease. Blood Cells Mol Dis. 2000;26: 285-290.
    • (2000) Blood Cells Mol Dis , vol.26 , pp. 285-290
    • Altarescu, G.1    Schiffmann, R.2    Parker, C.C.3
  • 15
    • 0141732470 scopus 로고    scopus 로고
    • Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease
    • No authors listed
    • [No authors listed]. Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. JAMA. 1996;275: 548-553.
    • (1996) JAMA , vol.275 , pp. 548-553
  • 16
    • 0025948896 scopus 로고
    • High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews
    • Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet. 1991;49: 855-889.
    • (1991) Am J Hum Genet , vol.49 , pp. 855-889
    • Zimran, A.1    Gelbart, T.2    Westwood, B.3    Grabowski, G.A.4    Beutler, E.5
  • 17
    • 79959945443 scopus 로고    scopus 로고
    • Gaucher disease: Clinical profile and therapeutic developments
    • Cox TM. Gaucher disease: clinical profile and therapeutic developments. Biologics. 2010;4: 299-213.
    • (2010) Biologics , vol.4 , pp. 213-299
    • Cox, T.M.1
  • 18
    • 53449086596 scopus 로고    scopus 로고
    • Gaucher disease: New developments in treatment and etiology
    • Harmanci O, Bayraktar Y. Gaucher disease: new developments in treatment and etiology. World J Gastroenterol. 2008;14: 3968-3973.
    • (2008) World J Gastroenterol , vol.14 , pp. 3968-3973
    • Harmanci, O.1    Bayraktar, Y.2
  • 19
    • 78650352199 scopus 로고    scopus 로고
    • A reappraisalofGaucher disease - Diagnosis anddisease managementalgorithms
    • Mistry PK, Cappellini MD, Lukina E, et al. A reappraisalofGaucher disease - diagnosis anddisease managementalgorithms. Am J Hematol. 2011;86: 110-115.
    • (2011) Am J Hematol , vol.86 , pp. 110-115
    • Mistry, P.K.1    Cappellini, M.D.2    Lukina, E.3
  • 20
    • 0003098985 scopus 로고
    • Bone involvement in Gaucher disease
    • Desnick R, Gatt S, Grabowski G, editors, New York, NY, USA: Alan R Liss
    • Beighton P, Goldblatt J, Sacks S. Bone involvement in Gaucher disease. In: Desnick R, Gatt S, Grabowski G, editors. Gaucher Disease: A Century of Delineation. New York, NY, USA: Alan R Liss; 1982.
    • (1982) Gaucher Disease: A Century of Delineation
    • Beighton, P.1    Goldblatt, J.2    Sacks, S.3
  • 21
    • 77956930534 scopus 로고    scopus 로고
    • Type 1 Gaucher disease: Significant disease manifestations in "asymptomatic" homozygotes
    • Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ. Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes. Arch Intern Med. 2010;170: 1463-1469.
    • (2010) Arch Intern Med , vol.170 , pp. 1463-1469
    • Balwani, M.1    Fuerstman, L.2    Kornreich, R.3    Edelmann, L.4    Desnick, R.J.5
  • 22
    • 82955235006 scopus 로고    scopus 로고
    • Gaucher disease and bone: Best practice and clinical research
    • Mikosch P. Gaucher disease and bone: best practice and clinical research. Rheumatology. 2011;21: 665-681.
    • (2011) Rheumatology , vol.21 , pp. 665-681
    • Mikosch, P.1
  • 23
    • 34347394965 scopus 로고    scopus 로고
    • Hyper-immunoglobulinemia in pediatric onset type 1 Gaucher disease and effects of enzyme replacement
    • Wine E, Yaniv I, Cohen IJ. Hyper-immunoglobulinemia in pediatric onset type 1 Gaucher disease and effects of enzyme replacement. J Pediatr Hematol Oncol. 2007;29: 451-457.
    • (2007) J Pediatr Hematol Oncol , vol.29 , pp. 451-457
    • Wine, E.1    Yaniv, I.2    Cohen, I.J.3
  • 25
    • 36048962945 scopus 로고    scopus 로고
    • Gaucher disease: Forging a new path to the lysosomes
    • Griffiths GM. Gaucher disease: forging a new path to the lysosomes. Cell. 2007;131: 647-649.
    • (2007) Cell , vol.131 , pp. 647-649
    • Griffiths, G.M.1
  • 26
    • 0042354624 scopus 로고    scopus 로고
    • X-ray structure of human acid-beta glucosidase, the defective enzyme in Gaucher disease
    • Dvir H, Harel M, McCarthy AA, et al. X-ray structure of human acid-beta glucosidase, the defective enzyme in Gaucher disease. EMBO Rep. 2003;4: 704-709.
    • (2003) EMBO Rep , vol.4 , pp. 704-709
    • Dvir, H.1    Harel, M.2    McCarthy, A.A.3
  • 27
    • 0026637316 scopus 로고
    • Structure and function of the mannose 6-phosphate/insulin like growth factor II receptors
    • KornfeldS. Structure and function of the mannose 6-phosphate/insulin like growth factor II receptors. Annu Rev Biochem. 1992;61: 307-330.
    • (1992) Annu Rev Biochem , vol.61 , pp. 307-330
    • Kornfeld, S.1
  • 28
    • 36048935960 scopus 로고    scopus 로고
    • LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta glucocerebrosidase
    • ReczekD, SchwakeM, SchröderJ, et al. LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta glucocerebrosidase. Cell. 2007;131: 770-783.
    • (2007) Cell , vol.131 , pp. 770-783
    • Reczek, D.1    Schwake, M.2    Schröder, J.3
  • 29
    • 17644422131 scopus 로고    scopus 로고
    • Gaucher disease: Pathological mechanisms and modern management
    • Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management. Br J Hematol. 2005;129: 178-188.
    • (2005) Br J Hematol , vol.129 , pp. 178-188
    • Jmoudiak, M.1    Futerman, A.H.2
  • 30
    • 79959803398 scopus 로고    scopus 로고
    • Biomarkers in the diagnosis of lysosomal storage disorders: Proteins, lipids, and inhibodies
    • Aerts JM, Kallemeijn WW, Wegdam W, et al. Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. J Inherit Metab Dis. 2011;34: 605-619.
    • (2011) J Inherit Metab Dis , vol.34 , pp. 605-619
    • Aerts, J.M.1    Kallemeijn, W.W.2    Wegdam, W.3
  • 31
    • 0014882816 scopus 로고
    • The diagnosis of the adult type of Gaucher’s disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes
    • Beutler E, Kuhl W. The diagnosis of the adult type of Gaucher’s disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes. J Lab Clin Med. 1970;76: 747-755.
    • (1970) J Lab Clin Med , vol.76 , pp. 747-755
    • Beutler, E.1    Kuhl, W.2
  • 32
    • 80051624253 scopus 로고    scopus 로고
    • How I treat Gaucher disease
    • Zimran A. How I treat Gaucher disease. Blood. 2011;118: 1463-1471.
    • (2011) Blood , vol.118 , pp. 1463-1471
    • Zimran, A.1
  • 33
    • 0022255512 scopus 로고
    • The occurrence of two immunologically distinguishable beta glucocerebrosidases in human spleen
    • Aerts JM, Donker-Koopman WE, van der Vliet MK, et al. The occurrence of two immunologically distinguishable beta glucocerebrosidases in human spleen. Eur J Biochem. 1985;150: 565-574.
    • (1985) Eur J Biochem , vol.150 , pp. 565-574
    • Aerts, J.M.1    Donker-Koopman, W.E.2    van der Vliet, M.K.3
  • 35
    • 0031464244 scopus 로고    scopus 로고
    • Plasma and metabolic abnormalities in Gaucher’s disease
    • Aerts JM, Hollak CE. Plasma and metabolic abnormalities in Gaucher’s disease. Baillieres Clin Haematol. 1997;10: 691-709.
    • (1997) Baillieres Clin Haematol , vol.10 , pp. 691-709
    • Aerts, J.M.1    Hollak, C.E.2
  • 36
    • 0034284271 scopus 로고    scopus 로고
    • Pathologic gene expression in Gaucher disease: Upregulation of cysteine proteinases including osteoclastic cathepsin K
    • Moran MT, Schofield JP, Hayman AR, Shi GP, Young E, CoxTM. Pathologic gene expression in Gaucher disease: upregulation of cysteine proteinases including osteoclastic cathepsin K. Blood. 2000;96: 1969-1978.
    • (2000) Blood , vol.96 , pp. 1969-1978
    • Moran, M.T.1    Schofield, J.P.2    Hayman, A.R.3    Shi, G.P.4    Young, E.5    Cox, T.M.6
  • 37
    • 50049134612 scopus 로고    scopus 로고
    • Potential artifacts in proteome analysis of plasma of Gaucher patients due to protease abnormalities
    • van Breemen MJ, Aerts JM, Sprenger RR, Speijer D. Potential artifacts in proteome analysis of plasma of Gaucher patients due to protease abnormalities. Clin Chim Acta. 2008;396: 26-32.
    • (2008) Clin Chim Acta , vol.396 , pp. 26-32
    • van Breemen, M.J.1    Aerts, J.M.2    Sprenger, R.R.3    Speijer, D.4
  • 38
  • 39
    • 34250001946 scopus 로고    scopus 로고
    • Increased plasma macrophage inflammatory protein (MIP)-1 alpha and MIP-1 beta levels in type 1 Gaucher disease
    • van Breemen MJ, de Fost M, Voerman JS, et al. Increased plasma macrophage inflammatory protein (MIP)-1 alpha and MIP-1 beta levels in type 1 Gaucher disease. Biochim Biophys Acta. 2007;1772: 788-796.
    • (2007) Biochim Biophys Acta , vol.1772 , pp. 788-796
    • van Breemen, M.J.1    de Fost, M.2    Voerman, J.S.3
  • 40
    • 0742269462 scopus 로고    scopus 로고
    • Plasma level of macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher’s disease
    • Moller HJ, de Frost M, Aerts H, Hollak C, Noetrup SK. Plasma level of macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher’s disease. Eur J Haematol. 2004;72: 135-139.
    • (2004) Eur J Haematol , vol.72 , pp. 135-139
    • Moller, H.J.1    de Frost, M.2    Aerts, H.3    Hollak, C.4    Noetrup, S.K.5
  • 41
    • 0027505001 scopus 로고
    • Human cartilage gp-39, a major secretory product of articular chondrocytes and synovial cells, is a mammalian member of a chitinase protein family
    • Hakala BE, White C, Recklies AD. Human cartilage gp-39, a major secretory product of articular chondrocytes and synovial cells, is a mammalian member of a chitinase protein family. J Biol Chem. 1993;268: 25803-25810.
    • (1993) J Biol Chem , vol.268 , pp. 25803-25810
    • Hakala, B.E.1    White, C.2    Recklies, A.D.3
  • 42
    • 0033964511 scopus 로고    scopus 로고
    • Identification of a novel eosinophil chemotactic cytokine (ECF-L) as a chitinase family protein
    • Owhashi M, Arita H, Hayai N. Identification of a novel eosinophil chemotactic cytokine (ECF-L) as a chitinase family protein. J Biol Chem. 2000;275: 1279-1286.
    • (2000) J Biol Chem , vol.275 , pp. 1279-1286
    • Owhashi, M.1    Arita, H.2    Hayai, N.3
  • 43
    • 0035152361 scopus 로고    scopus 로고
    • Clinically relevant therapeutic endpoints in type 1 Gaucher disease
    • Hollak CE, Maas M, Aerts JM. Clinically relevant therapeutic endpoints in type 1 Gaucher disease. J Inherit Metab Dis. 2001;24 Suppl 2: 97-105.
    • (2001) J Inherit Metab Dis , vol.24 , pp. 97-105
    • Hollak, C.E.1    Maas, M.2    Aerts, J.M.3
  • 44
    • 48749087616 scopus 로고    scopus 로고
    • A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease
    • DiRocco M, Giona F, Carubbi F, et al. A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease. Haematologica. 2008;93: 1211-1218.
    • (2008) Haematologica , vol.93 , pp. 1211-1218
    • DiRocco, M.1    Giona, F.2    Carubbi, F.3
  • 45
    • 9144222696 scopus 로고    scopus 로고
    • Marked elevation of the chemokine CCL18/PARC in Gaucher disease: A novel surrogate marker for assessing therapeutic interventions
    • Boot RG, Verhoek M, de Fost M, et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic interventions. Blood. 2004;103: 33-39.
    • (2004) Blood , vol.103 , pp. 33-39
    • Boot, R.G.1    Verhoek, M.2    de Fost, M.3
  • 46
    • 24644469894 scopus 로고    scopus 로고
    • Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease
    • Deegan B, Moran MT, McFarlane I, et al. Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol Dis. 2005;35: 259-267.
    • (2005) Blood Cells Mol Dis , vol.35 , pp. 259-267
    • Deegan, B.1    Moran, M.T.2    McFarlane, I.3
  • 47
    • 33746875515 scopus 로고    scopus 로고
    • CCL18: A urinary marker of Gaucher cell burden in Gaucher patients
    • Boot RG, Verhoek M, Langeveld M, et al. CCL18: a urinary marker of Gaucher cell burden in Gaucher patients. J Inherit Metab Dis. 2006;29: 564-571.
    • (2006) J Inherit Metab Dis , vol.29 , pp. 564-571
    • Boot, R.G.1    Verhoek, M.2    Langeveld, M.3
  • 48
    • 45849102732 scopus 로고    scopus 로고
    • Management of non-neuropathic Gaucher disease with special reference to pregnancy, splenectomy, biphosphonate therapy, use of biomarkers and bone disease monitoring
    • Cox TM, Aerts JM, Belmatoug N, et al. Management of non-neuropathic Gaucher disease with special reference to pregnancy, splenectomy, biphosphonate therapy, use of biomarkers and bone disease monitoring. J Inherit Metab Dis. 2008;31: 319-336.
    • (2008) J Inherit Metab Dis , vol.31 , pp. 319-336
    • Cox, T.M.1    Aerts, J.M.2    Belmatoug, N.3
  • 49
    • 84894280298 scopus 로고    scopus 로고
    • Glucosylsphingosine is highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients
    • Rolfs A, Giese AK, Grittner U, et al. Glucosylsphingosine is highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients. PLoS One. 2013;8: e79732.
    • (2013) PLoS One , vol.8
    • Rolfs, A.1    Giese, A.K.2    Grittner, U.3
  • 50
    • 84981559507 scopus 로고    scopus 로고
    • Search word: velaglucerase alfa, Accessed July 24
    • http://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=ca02f7a4-ae4f-43c1-a06a-259fe4fcf9cf. Search word: velaglucerase alfa. Accessed July 24, 2015.
    • (2015)
  • 51
    • 84981546336 scopus 로고    scopus 로고
    • Search word: taliglucerase alfa. Accessed December 28
    • http://dailymed.nlm.gov/dailymed/lookup.cfm? Search word: taliglucerase alfa. Accessed December 28, 2012.
    • (2012)
  • 52
    • 84952989751 scopus 로고    scopus 로고
    • Eliglustat tartrate: Glucosylceramide synthase inhibitor treatment of type 1 Gaucher disease
    • Shayman JA. Eliglustat tartrate: glucosylceramide synthase inhibitor treatment of type 1 Gaucher disease. Drugs Future. 2010;35: 613-620.
    • (2010) Drugs Future , vol.35 , pp. 613-620
    • Shayman, J.A.1
  • 53
    • 84895855941 scopus 로고    scopus 로고
    • The design and clinical development of inhibitors of glycosphingolipid synthesis: Will invention be the mother of necessity?
    • Shayman JA. The design and clinical development of inhibitors of glycosphingolipid synthesis: will invention be the mother of necessity? Trans Am Clin Climatol Assoc. 2013;124: 46-60.
    • (2013) Trans Am Clin Climatol Assoc , vol.124 , pp. 46-60
    • Shayman, J.A.1
  • 54
    • 0037401639 scopus 로고    scopus 로고
    • The roles of ceramide and complex sphingolipids in neuronal cell function
    • Buccoliero R, Futerman AH. The roles of ceramide and complex sphingolipids in neuronal cell function. Pharmacol Res. 2003;47: 409-419.
    • (2003) Pharmacol Res , vol.47 , pp. 409-419
    • Buccoliero, R.1    Futerman, A.H.2
  • 55
    • 84981512608 scopus 로고    scopus 로고
    • Accessed July 24
    • http://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=817892d1-ee12-4632-85fc-57ccdf16d7b8. Search word: miglustat. Accessed July 24, 2015.
    • (2015) Search word: Miglustat
  • 56
    • 57749100376 scopus 로고    scopus 로고
    • Randomized controlled trial of miglustat in Gaucher’s disease type 3
    • Schiffmann R, Fitzgibbon EJ, Harris C, et al. Randomized controlled trial of miglustat in Gaucher’s disease type 3. Ann Neurol. 2008;64: 514-522.
    • (2008) Ann Neurol , vol.64 , pp. 514-522
    • Schiffmann, R.1    Fitzgibbon, E.J.2    Harris, C.3
  • 58
    • 4444309565 scopus 로고    scopus 로고
    • The complex life of simple sphingolipids
    • Futerman AH, Hannun YA. The complex life of simple sphingolipids. EMBO Rep. 2004;5: 777-782.
    • (2004) EMBO Rep , vol.5 , pp. 777-782
    • Futerman, A.H.1    Hannun, Y.A.2
  • 59
    • 0033591332 scopus 로고    scopus 로고
    • Improved inhibitors of glucosylceramide synthase
    • Lee L, Abe A, Shayman JA. Improved inhibitors of glucosylceramide synthase. J Biol Chem. 1999;274: 14662-14669.
    • (1999) J Biol Chem , vol.274 , pp. 14662-14669
    • Lee, L.1    Abe, A.2    Shayman, J.A.3
  • 60
    • 34249306894 scopus 로고    scopus 로고
    • A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease
    • McWachern KA, Fung J, Komarnitsky S, et al. A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Mol Genet Metab. 2007;91: 259-267.
    • (2007) Mol Genet Metab , vol.91 , pp. 259-267
    • McWachern, K.A.1    Fung, J.2    Komarnitsky, S.3
  • 61
    • 77953229219 scopus 로고    scopus 로고
    • Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy
    • Marshall J, McEachern KA, Chuang WL, et al. Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy. J Inherit Metab Dis. 2010;33: 281-289.
    • (2010) J Inherit Metab Dis , vol.33 , pp. 281-289
    • Marshall, J.1    McEachern, K.A.2    Chuang, W.L.3
  • 62
    • 84916227639 scopus 로고    scopus 로고
    • Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy
    • Pavlova EV, Archer J, Wang SZ, et al. Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy. J Pathol. 2015;235: 113-124.
    • (2015) J Pathol , vol.235 , pp. 113-124
    • Pavlova, E.V.1    Archer, J.2    Wang, S.Z.3
  • 63
    • 77957605619 scopus 로고    scopus 로고
    • Eliglustat tartrate, an orally glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases
    • Cox TM. Eliglustat tartrate, an orally glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases. Curr Opin Invest Drugs. 2010;11: 1169-1181.
    • (2010) Curr Opin Invest Drugs , vol.11 , pp. 1169-1181
    • Cox, T.M.1
  • 64
    • 84981559470 scopus 로고    scopus 로고
    • August 19, Available from:, Accessed July 12, 2015
    • US Food and Drug Administration. FDA approves new orphan drug to treat a form of Gaucher disease. August 19, 2014. Available from: http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm302549.htm. Accessed July 12, 2015.
    • (2014) FDA approves new orphan drug to treat a form of Gaucher disease
  • 65
    • 84981546292 scopus 로고    scopus 로고
    • Available from:, Accessed June 23, 2015
    • Genzyme Corporation. Cerdelga (eliglustat). Available from: http://cerdelga.com/pdf/cerdelga_prescribing-information.pdf. Accessed June 23, 2015.
    • Cerdelga (eliglustat)
  • 66
    • 84922070865 scopus 로고    scopus 로고
    • Eliglustat: First global approval
    • Poole RM. Eliglustat: first global approval. Drugs. 2014;74: 1829-1836.
    • (2014) Drugs , vol.74 , pp. 1829-1836
    • Poole, R.M.1
  • 67
    • 77957601016 scopus 로고    scopus 로고
    • Safety, tolerability, and pharmacokinetics of eliglustat tartrate (Genz-112638) after single dose, multiple doses, and food in healthy volunteers
    • Peterschmitt MJ, Burke A, Blankstein L, et al. Safety, tolerability, and pharmacokinetics of eliglustat tartrate (Genz-112638) after single dose, multiple doses, and food in healthy volunteers. J Clin Pharmacol. 2011;51: 695-705.
    • (2011) J Clin Pharmacol , vol.51 , pp. 695-705
    • Peterschmitt, M.J.1    Burke, A.2    Blankstein, L.3
  • 68
    • 77954538917 scopus 로고    scopus 로고
    • A Phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1
    • Lukina E, Watman N, Arreguin EA, et al. A Phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1. Blood. 2010;116: 893-899.
    • (2010) Blood , vol.116 , pp. 893-899
    • Lukina, E.1    Watman, N.2    Arreguin, E.A.3
  • 69
    • 77957551053 scopus 로고    scopus 로고
    • Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (GENZ-112638) treatment: 2-year results of a Phase 2 study
    • Lukina E, Watman N, Arreguin EA, et al. Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (GENZ-112638) treatment: 2-year results of a Phase 2 study. Blood. 2010;116: 4095-4098.
    • (2010) Blood , vol.116 , pp. 4095-4098
    • Lukina, E.1    Watman, N.2    Arreguin, E.A.3
  • 70
    • 84908086749 scopus 로고    scopus 로고
    • Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4years of treatment
    • Lukina E, Watman N, Dragosky M, et al. Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4years of treatment. Blood Cells Mol Dis. 2014;53: 274-276.
    • (2014) Blood Cells Mol Dis , vol.53 , pp. 274-276
    • Lukina, E.1    Watman, N.2    Dragosky, M.3
  • 71
    • 84906934849 scopus 로고    scopus 로고
    • Skeletal improvement in patients with Gaucher disease type 1: A Phase 2 trial of oral eliglustat
    • Kamath RS, Lukina E, Watman N, et al. Skeletal improvement in patients with Gaucher disease type 1: a Phase 2 trial of oral eliglustat. Skeletal Radiol. 2014;43: 1353-1360.
    • (2014) Skeletal Radiol , vol.43 , pp. 1353-1360
    • Kamath, R.S.1    Lukina, E.2    Watman, N.3
  • 72
    • 84923186347 scopus 로고    scopus 로고
    • Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1
    • Mistry PK, Lukina E, Turkia HB, et al. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1. JAMA. 2015;313: 695-706.
    • (2015) JAMA , vol.313 , pp. 695-706
    • Mistry, P.K.1    Lukina, E.2    Turkia, H.B.3
  • 73
    • 84930932122 scopus 로고    scopus 로고
    • Eliglustat compared with imiglucerase in patients with Gaucher’s disease type 1 stabilized on enzyme replacement therapy: A Phase 3, randomised, open-label non-inferiority trial
    • Cox TM, Drelichman G, Cravo R, et al. Eliglustat compared with imiglucerase in patients with Gaucher’s disease type 1 stabilized on enzyme replacement therapy: a Phase 3, randomised, open-label non-inferiority trial. Lancet. 2015;385: 2355-2362.
    • (2015) Lancet , vol.385 , pp. 2355-2362
    • Cox, T.M.1    Drelichman, G.2    Cravo, R.3
  • 75
    • 4444328072 scopus 로고    scopus 로고
    • Gaucher disease: Alendronate disodium improves bone mineral density in adults receiving enzyme therapy
    • Wenstup RJ, Bailey L, Grabowski GA, et al. Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy. Blood. 2004;104: 1253-1257.
    • (2004) Blood , vol.104 , pp. 1253-1257
    • Wenstup, R.J.1    Bailey, L.2    Grabowski, G.A.3
  • 76
    • 0027964334 scopus 로고
    • Amino hydroxy propylidene biphosphonate (APD) treatment improve the clinical skeletal manifestations of Gaucher’s disease
    • Sanuel R, Katz K, Papapoulos SE, Yosipovitch Z, Zaizov R, LibermanUA. Amino hydroxy propylidene biphosphonate (APD) treatment improve the clinical skeletal manifestations of Gaucher’s disease. Pediatrics. 1994;94: 385-389.
    • (1994) Pediatrics , vol.94 , pp. 385-389
    • Sanuel, R.1    Katz, K.2    Papapoulos, S.E.3    Yosipovitch, Z.4    Zaizov, R.5    Liberman, U.A.6
  • 77
    • 84981531852 scopus 로고    scopus 로고
    • Available from:, Accessed June 22
    • Available from: http://www.goodrx.com/cerdelga. Accessed June 22, 2015.
    • (2015)


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.