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Volumn 6, Issue 12, 2011, Pages

Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease

Author keywords

[No Author keywords available]

Indexed keywords

CEREBROSIDE SULFATASE; VIRUS LARGE T ANTIGEN;

EID: 83755229176     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0029504     Document Type: Article
Times cited : (13)

References (40)
  • 1
    • 77954954109 scopus 로고    scopus 로고
    • Cell-based assays for high-throughput screening
    • An WF, Tolliday N, (2010) Cell-based assays for high-throughput screening. Mol Biotechnol 45: 180-186.
    • (2010) Mol Biotechnol , vol.45 , pp. 180-186
    • An, W.F.1    Tolliday, N.2
  • 2
    • 76749161255 scopus 로고    scopus 로고
    • Genetic interventions in mammalian cells; applications and uses in high-throughput screening and drug discovery
    • Hampton SL, Kinnaird AI, (2010) Genetic interventions in mammalian cells; applications and uses in high-throughput screening and drug discovery. Cell Biol Toxicol 26: 43-55.
    • (2010) Cell Biol Toxicol , vol.26 , pp. 43-55
    • Hampton, S.L.1    Kinnaird, A.I.2
  • 5
    • 0242524418 scopus 로고    scopus 로고
    • Enzyme therapy for lysosomal storage disease: principles, practice, and prospects
    • Grabowski GA, Hopkin RJ, (2003) Enzyme therapy for lysosomal storage disease: principles, practice, and prospects. Annu Rev Genomics Hum Genet 4: 403-436.
    • (2003) Annu Rev Genomics Hum Genet , vol.4 , pp. 403-436
    • Grabowski, G.A.1    Hopkin, R.J.2
  • 6
    • 34247859067 scopus 로고    scopus 로고
    • Pyrimethamine as a Potential Pharmacological Chaperone for Late-onset Forms of GM2 Gangliosidosis
    • Maegawa GH, Tropak M, Buttner J, Stockley T, Kok F, et al. (2007) Pyrimethamine as a Potential Pharmacological Chaperone for Late-onset Forms of GM2 Gangliosidosis. J Biol Chem 282: 9150-9161.
    • (2007) J Biol Chem , vol.282 , pp. 9150-9161
    • Maegawa, G.H.1    Tropak, M.2    Buttner, J.3    Stockley, T.4    Kok, F.5
  • 7
    • 69949119548 scopus 로고    scopus 로고
    • Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease
    • Maegawa GH, Tropak MB, Buttner JD, Rigat BA, Fuller M, et al. (2009) Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J Biol Chem 284: 23502-23516.
    • (2009) J Biol Chem , vol.284 , pp. 23502-23516
    • Maegawa, G.H.1    Tropak, M.B.2    Buttner, J.D.3    Rigat, B.A.4    Fuller, M.5
  • 8
    • 77955877098 scopus 로고    scopus 로고
    • Emerging drugs for lysosomal storage diseases
    • Beck M, (2010) Emerging drugs for lysosomal storage diseases. Expert Opin Emerg Drugs 15: 495-507.
    • (2010) Expert Opin Emerg Drugs , vol.15 , pp. 495-507
    • Beck, M.1
  • 9
    • 3042540232 scopus 로고    scopus 로고
    • Pharmacological chaperones: potential treatment for conformational diseases
    • Bernier V, Lagace M, Bichet DG, Bouvier M, (2004) Pharmacological chaperones: potential treatment for conformational diseases. Trends Endocrinol Metab 15: 222-228.
    • (2004) Trends Endocrinol Metab , vol.15 , pp. 222-228
    • Bernier, V.1    Lagace, M.2    Bichet, D.G.3    Bouvier, M.4
  • 10
    • 33847032037 scopus 로고    scopus 로고
    • High-throughput screening for human lysosomal beta-N-Acetyl hexosaminidase inhibitors acting as pharmacological chaperones
    • Tropak MB, Blanchard JE, Withers SG, Brown ED, Mahuran D, (2007) High-throughput screening for human lysosomal beta-N-Acetyl hexosaminidase inhibitors acting as pharmacological chaperones. Chem Biol 14: 153-164.
    • (2007) Chem Biol , vol.14 , pp. 153-164
    • Tropak, M.B.1    Blanchard, J.E.2    Withers, S.G.3    Brown, E.D.4    Mahuran, D.5
  • 11
    • 34548650256 scopus 로고    scopus 로고
    • Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease
    • Zheng W, Padia J, Urban DJ, Jadhav A, Goker-Alpan O, et al. (2007) Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease. Proc Natl Acad Sci U S A 104: 13192-13197.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , pp. 13192-13197
    • Zheng, W.1    Padia, J.2    Urban, D.J.3    Jadhav, A.4    Goker-Alpan, O.5
  • 12
    • 65649118646 scopus 로고    scopus 로고
    • A new resorufin-based alpha-glucosidase assay for high-throughput screening
    • Motabar O, Shi ZD, Goldin E, Liu K, Southall N, et al. (2009) A new resorufin-based alpha-glucosidase assay for high-throughput screening. Anal Biochem 390: 79-84.
    • (2009) Anal Biochem , vol.390 , pp. 79-84
    • Motabar, O.1    Shi, Z.D.2    Goldin, E.3    Liu, K.4    Southall, N.5
  • 13
    • 50249175120 scopus 로고    scopus 로고
    • Chemical and biological approaches synergize to ameliorate protein-folding diseases
    • Mu TW, Ong DS, Wang YJ, Balch WE, Yates JR 3rd, et al. (2008) Chemical and biological approaches synergize to ameliorate protein-folding diseases. Cell 134: 769-781.
    • (2008) Cell , vol.134 , pp. 769-781
    • Mu, T.W.1    Ong, D.S.2    Wang, Y.J.3    Balch, W.E.4    Yates III, J.R.5
  • 14
    • 41049102552 scopus 로고    scopus 로고
    • Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options
    • Gieselmann V, (2008) Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. Acta Paediatr Suppl 97: 15-21.
    • (2008) Acta Paediatr Suppl , vol.97 , pp. 15-21
    • Gieselmann, V.1
  • 15
    • 0018903866 scopus 로고
    • Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight
    • Hasilik A, Neufeld EF, (1980) Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight. J Biol Chem 255: 4937-4945.
    • (1980) J Biol Chem , vol.255 , pp. 4937-4945
    • Hasilik, A.1    Neufeld, E.F.2
  • 16
    • 0014352329 scopus 로고
    • Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts
    • Fratantoni JC, Hall CW, Neufeld EF, (1968) Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science 162: 570-572.
    • (1968) Science , vol.162 , pp. 570-572
    • Fratantoni, J.C.1    Hall, C.W.2    Neufeld, E.F.3
  • 17
    • 0024375008 scopus 로고
    • Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase
    • Neufeld EF, (1989) Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase. J Biol Chem 264: 10927-10930.
    • (1989) J Biol Chem , vol.264 , pp. 10927-10930
    • Neufeld, E.F.1
  • 18
    • 0026516595 scopus 로고
    • Uptake and metabolism of a fluorescent sulfatide analogue in cultured skin fibroblasts
    • Monti E, Preti A, Novati A, Aleo MF, Clemente ML, et al. (1992) Uptake and metabolism of a fluorescent sulfatide analogue in cultured skin fibroblasts. Biochim Biophys Acta 1124: 80-87.
    • (1992) Biochim Biophys Acta , vol.1124 , pp. 80-87
    • Monti, E.1    Preti, A.2    Novati, A.3    Aleo, M.F.4    Clemente, M.L.5
  • 19
    • 49749198315 scopus 로고
    • The assay of arylsulphatases A and B in human urine
    • Baum H, Dodgson KS, Spencer B, (1959) The assay of arylsulphatases A and B in human urine. Clin Chim Acta 4: 453-455.
    • (1959) Clin Chim Acta , vol.4 , pp. 453-455
    • Baum, H.1    Dodgson, K.S.2    Spencer, B.3
  • 20
    • 0015580344 scopus 로고
    • The patterns of arylsulphatases A and B in human normal and metachromatic leucodystrophy tissues and their relationship to the cerebroside sulphatase activity
    • Harzer K, Stinshoff K, Mraz W, Jatzkewitz H, (1973) The patterns of arylsulphatases A and B in human normal and metachromatic leucodystrophy tissues and their relationship to the cerebroside sulphatase activity. J Neurochem 20: 279-287.
    • (1973) J Neurochem , vol.20 , pp. 279-287
    • Harzer, K.1    Stinshoff, K.2    Mraz, W.3    Jatzkewitz, H.4
  • 21
    • 0035118329 scopus 로고    scopus 로고
    • Simple absorbance-based assays for ultra-high throughput screening
    • Lavery P, Brown MJ, Pope AJ, (2001) Simple absorbance-based assays for ultra-high throughput screening. J Biomol Screen 6: 3-9.
    • (2001) J Biomol Screen , vol.6 , pp. 3-9
    • Lavery, P.1    Brown, M.J.2    Pope, A.J.3
  • 22
    • 21244499657 scopus 로고    scopus 로고
    • Miniaturization of absorbance assays using the fluorescent properties of white microplates
    • Zuck P, O'Donnell GT, Cassaday J, Chase P, Hodder P, et al. (2005) Miniaturization of absorbance assays using the fluorescent properties of white microplates. Anal Biochem 342: 254-259.
    • (2005) Anal Biochem , vol.342 , pp. 254-259
    • Zuck, P.1    O'Donnell, G.T.2    Cassaday, J.3    Chase, P.4    Hodder, P.5
  • 23
    • 33746789921 scopus 로고    scopus 로고
    • Quantitative high-throughput screening: a titration-based approach that efficiently identifies biological activities in large chemical libraries
    • Inglese J, Auld DS, Jadhav A, Johnson RL, Simeonov A, et al. (2006) Quantitative high-throughput screening: a titration-based approach that efficiently identifies biological activities in large chemical libraries. Proc Natl Acad Sci U S A 103: 11473-11478.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 11473-11478
    • Inglese, J.1    Auld, D.S.2    Jadhav, A.3    Johnson, R.L.4    Simeonov, A.5
  • 24
    • 64449085191 scopus 로고    scopus 로고
    • Pathogenic cascades in lysosomal disease-Why so complex?
    • Walkley SU, (2009) Pathogenic cascades in lysosomal disease-Why so complex? J Inherit Metab Dis 32: 181-189.
    • (2009) J Inherit Metab Dis , vol.32 , pp. 181-189
    • Walkley, S.U.1
  • 26
    • 34250888773 scopus 로고    scopus 로고
    • Functional characterization of cell lines for high-throughput screening of human neuromedin U receptor subtype 2 specific agonists using a luciferase reporter gene assay
    • Li X, Shen F, Zhang Y, Zhu J, Huang L, et al. (2007) Functional characterization of cell lines for high-throughput screening of human neuromedin U receptor subtype 2 specific agonists using a luciferase reporter gene assay. Eur J Pharm Biopharm 67: 284-292.
    • (2007) Eur J Pharm Biopharm , vol.67 , pp. 284-292
    • Li, X.1    Shen, F.2    Zhang, Y.3    Zhu, J.4    Huang, L.5
  • 27
    • 15744382282 scopus 로고    scopus 로고
    • Screening for cell migration inhibitors via automated microscopy reveals a Rho-kinase inhibitor
    • Yarrow JC, Totsukawa G, Charras GT, Mitchison TJ, (2005) Screening for cell migration inhibitors via automated microscopy reveals a Rho-kinase inhibitor. Chem Biol 12: 385-395.
    • (2005) Chem Biol , vol.12 , pp. 385-395
    • Yarrow, J.C.1    Totsukawa, G.2    Charras, G.T.3    Mitchison, T.J.4
  • 28
    • 12344288635 scopus 로고    scopus 로고
    • Parallel chemical genetic and genome-wide RNAi screens identify cytokinesis inhibitors and targets
    • Eggert US, Kiger AA, Richter C, Perlman ZE, Perrimon N, et al. (2004) Parallel chemical genetic and genome-wide RNAi screens identify cytokinesis inhibitors and targets. PLoS Biol 2: e379.
    • (2004) PLoS Biol , vol.2
    • Eggert, U.S.1    Kiger, A.A.2    Richter, C.3    Perlman, Z.E.4    Perrimon, N.5
  • 29
    • 0022416525 scopus 로고
    • Establishment of human fibroblast cell lines with lysosomal enzyme deficiency by transformation with origin-minus SV40 DNA
    • Furuya T, Momoi T, Suzuki Y, Sato H, Yamaguchi N, (1985) Establishment of human fibroblast cell lines with lysosomal enzyme deficiency by transformation with origin-minus SV40 DNA. J Inherit Metab Dis 8: 143-144.
    • (1985) J Inherit Metab Dis , vol.8 , pp. 143-144
    • Furuya, T.1    Momoi, T.2    Suzuki, Y.3    Sato, H.4    Yamaguchi, N.5
  • 30
    • 0026572112 scopus 로고
    • Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease
    • Leinekugel P, Michel S, Conzelmann E, Sandhoff K, (1992) Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. Hum Genet 88: 513-523.
    • (1992) Hum Genet , vol.88 , pp. 513-523
    • Leinekugel, P.1    Michel, S.2    Conzelmann, E.3    Sandhoff, K.4
  • 31
    • 0032819354 scopus 로고    scopus 로고
    • Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients
    • Gort L, Coll MJ, Chabas A, (1999) Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. Hum Mutat 14: 240-248.
    • (1999) Hum Mutat , vol.14 , pp. 240-248
    • Gort, L.1    Coll, M.J.2    Chabas, A.3
  • 32
    • 33748684424 scopus 로고    scopus 로고
    • Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype
    • Rauschka H, Colsch B, Baumann N, Wevers R, Schmidbauer M, et al. (2006) Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. Neurology 67: 859-863.
    • (2006) Neurology , vol.67 , pp. 859-863
    • Rauschka, H.1    Colsch, B.2    Baumann, N.3    Wevers, R.4    Schmidbauer, M.5
  • 33
    • 14644390973 scopus 로고    scopus 로고
    • Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum
    • Poeppel P, Habetha M, Marcao A, Bussow H, Berna L, et al. (2005) Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum. FEBS J 272: 1179-1188.
    • (2005) FEBS J , vol.272 , pp. 1179-1188
    • Poeppel, P.1    Habetha, M.2    Marcao, A.3    Bussow, H.4    Berna, L.5
  • 34
    • 13844286793 scopus 로고    scopus 로고
    • Miniaturization of intracellular calcium functional assays to 1536-well plate format using a fluorometric imaging plate reader
    • Hodder P, Mull R, Cassaday J, Berry K, Strulovici B, (2004) Miniaturization of intracellular calcium functional assays to 1536-well plate format using a fluorometric imaging plate reader. J Biomol Screen 9: 417-426.
    • (2004) J Biomol Screen , vol.9 , pp. 417-426
    • Hodder, P.1    Mull, R.2    Cassaday, J.3    Berry, K.4    Strulovici, B.5
  • 35
    • 37749050446 scopus 로고    scopus 로고
    • Comparison of miniaturized time-resolved fluorescence resonance energy transfer and enzyme-coupled luciferase high-throughput screening assays to discover inhibitors of Rho-kinase II (ROCK-II)
    • Schroter T, Minond D, Weiser A, Dao C, Habel J, et al. (2008) Comparison of miniaturized time-resolved fluorescence resonance energy transfer and enzyme-coupled luciferase high-throughput screening assays to discover inhibitors of Rho-kinase II (ROCK-II). J Biomol Screen 13: 17-28.
    • (2008) J Biomol Screen , vol.13 , pp. 17-28
    • Schroter, T.1    Minond, D.2    Weiser, A.3    Dao, C.4    Habel, J.5
  • 36
    • 70349335660 scopus 로고    scopus 로고
    • Enzyme assay design for high-throughput screening
    • Williams KP, Scott JE, (2009) Enzyme assay design for high-throughput screening. Methods Mol Biol 565: 107-126.
    • (2009) Methods Mol Biol , vol.565 , pp. 107-126
    • Williams, K.P.1    Scott, J.E.2
  • 37
    • 43049109870 scopus 로고    scopus 로고
    • Fluorescence spectroscopic profiling of compound libraries
    • Simeonov A, Jadhav A, Thomas CJ, Wang Y, Huang R, et al. (2008) Fluorescence spectroscopic profiling of compound libraries. J Med Chem 51: 2363-2371.
    • (2008) J Med Chem , vol.51 , pp. 2363-2371
    • Simeonov, A.1    Jadhav, A.2    Thomas, C.J.3    Wang, Y.4    Huang, R.5
  • 38
    • 0347511689 scopus 로고    scopus 로고
    • Fluorescence readouts in HTS: no gain without pain?
    • Gribbon P, Sewing A, (2003) Fluorescence readouts in HTS: no gain without pain? Drug Discov Today 8: 1035-1043.
    • (2003) Drug Discov Today , vol.8 , pp. 1035-1043
    • Gribbon, P.1    Sewing, A.2
  • 39
    • 0026353838 scopus 로고
    • Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient
    • Fluharty AL, Fluharty CB, Bohne W, von Figura K, Gieselmann V, (1991) Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. Am J Hum Genet 49: 1340-1350.
    • (1991) Am J Hum Genet , vol.49 , pp. 1340-1350
    • Fluharty, A.L.1    Fluharty, C.B.2    Bohne, W.3    von Figura, K.4    Gieselmann, V.5
  • 40
    • 0033003760 scopus 로고    scopus 로고
    • A Simple Statistical Parameter for Use in Evaluation and Validation of High Throughput Screening Assays
    • Zhang JH, Chung TD, Oldenburg KR, (1999) A Simple Statistical Parameter for Use in Evaluation and Validation of High Throughput Screening Assays. J Biomol Screen 4: 67-73.
    • (1999) J Biomol Screen , vol.4 , pp. 67-73
    • Zhang, J.H.1    Chung, T.D.2    Oldenburg, K.R.3


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