The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice

Brain and Development

Volumn 35, Issue 4, 2013, Pages 317-322

  Luan, Zhuo ^a   Li, Linjing ^a,b,d   Higaki, Katsumi ^b   Nanba, Eiji ^b   Suzuki, Yoshiyuki ^c   Ohno, Kousaku ^a  

^a TOTTORI UNIVERSITY   (Japan)

^b TOTTORI UNIVERSITY   (Japan)

^c INTERNATIONAL UNIVERSITY OF HEALTH AND WELFARE   (Japan)

^d UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

Author keywords

Glucosidase; Ambroxol; Chaperone therapy; Gaucher disease

Indexed keywords

AMBROXOL; BETA GLUCAN; CHAPERONE;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CEREBELLUM; CONTROLLED STUDY; CYTOTOXICITY; DRUG BIOAVAILABILITY; DRUG DISTRIBUTION; ENZYME ACTIVITY; FIBROBLAST; GAUCHER DISEASE; HUMAN; HUMAN CELL; MALE; MOUSE; MUTANT; NONHUMAN; URINALYSIS;

AMBROXOL; ANIMALS; BETA-GLUCOSIDASE; BODY WEIGHT; CELLS, CULTURED; COLORIMETRY; DOSE-RESPONSE RELATIONSHIP, DRUG; DRINKING; EXPECTORANTS; FIBROBLASTS; FLUORESCENT DYES; GALACTOSIDES; GAUCHER DISEASE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; HYMECROMONE; MICE; MICE, INBRED C57BL; MOLECULAR CHAPERONES; MUTATION; SKIN; TIME FACTORS;

EID: 84875549809     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2012.05.008     Document Type: Article

References (27)

1. Beutler E., Grabowski G.A. Gaucher disease. The metabolic and molecular bases of inherited disease 2001, 3635-3668. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
2. Butters T.D. Gaucher disease. Curr Opin Chem Biol 2007, 11:412-418.
3. Barton N.W., Brady R.O., Dambrosia J.M., Di Bisceglie A.M., Doppelt S.H., Hill S.C., et al. Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 1991, 324:1464-1470.
4. Cox T., Lachmann R., Hollak C., Aerts J., van Weely S., Hrebicek M., et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin(OGT918) to decrease substrate biosynthesis. Lancet 2000, 355:1481-1485.
5. Grabowski G.A., Leslie N., Wenstrup R. Enzyme therapy for Gaucher disease: the first 5 years. Blood Rev 1998, 12:115-133.
6. Platt F.M., Jeyakumar M., Andersson U., Priestman D.A., Dwek R.A., Butters T.D. Inhibition of substrate synthesis as a strategy for glycolipids lysosomal storage disease therapy. J Inherit Metab Dis 2001, 24:275-290.
7. Schiffmann R., Heyes M.P., Aerts J.M., Dambrosia J.M., Patterson M.C., DeGraba T., et al. Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease. Ann Neurol 1997, 42:613-621.
8. Prows C.A., Sanchez N., Daugherty C., Grabowski G.A. Gaucher disease: enzyme therapy in the acute neuronopathic variant. Am J Med Genet 1997, 71:16-21.
9. Aoki M., Takahashi Y., Miwa Y., Iida S., Sukegawa K., Horai T., et al. Improvement of neurological symptoms by enzyme replacement therapy for Gaucher disease type IIIb. Eur J Pediatr 2001, 160:63-64.
10. Aerts J.M., Hollak C.E., Boot R.G., Groener J.E., Maas M. Substrate reduction therapy of glycosphingolipid storage disorders. J Inherit Metab Dis 2006, 29:449-456.
11. Ron I., Horowitz M. ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum Mol Genet 2005, 14:2387-2398.
12. Ogawa S., Ashiura M., Uchida C., Watanabe S., Yamazaki C., Yamagishi K., et al. Synthesis of potent β-D-glucocerebrosidase inhibitors: N-alkyl-β-valienamines. Bioorg Med Chem Lett 1996, 6:929-932.
13. Lin H., Sugimoto Y., Ohsaki Y., Ninomiya H., Oka A., Taniguchi M., et al. N-Octyl-β-valienamine upregulates activity of F213I mutant β-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease. Biochim Biophys Acta 2004, 1689:219-228.
14. Lei K., Ninomiya H., Suzuki M., Inoue T., Sawa M., Iida M., et al. Enzyme enhancement activity of N-octyl-β-valienamine on β-glucosidase mutants associated with Gaucher disease. Biochim Biophys Acta 2007, 1772:587-596.
15. Luan Z., Higaki K., Aguilar-Moncayo M., Ninomiya H., Ohno K., García-Moreno M.I., et al. Chaperone activity of bicyclic nojirimycin analogues for Gaucher mutations in comparison with N-(n-nonyl)deoxynojirimycin. ChemBiochem 2009, 10:2780-2792.
16. Luan Z., Li L., Ninomiya H., Ohno K., Ogawa S., Kubo T., et al. The pharmacological chaperone effect of N-octyl-β-valienamine on human mutant acid β-glucosidases. Blood Cells Mol Dis 2010, 44:48-54.
17. Luan Z., Ninomiya H., Ohno K., Ogawa S., Kubo T., Iida M., et al. The effect of N-octyl-β-valienamine on β-glucosidase activity in tissues of normal mice. Brain Dev 2010, 32:805-809.
18. Luan Z., Higaki K., Aguilar-Moncayo M., Li L., Ninomiya H., Nanba E., et al. A Fluorescent sp2-iminosugar with pharmacological chaperone activity for Gaucher disease: synthesis and intracellular distribution studies. ChemBiochem 2010, 11:2453-2464.
19. Maegawa G.H., Tropak M.B., Buttner J.D., Rigat B.A., Fuller M., Pandit D., et al. Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J Biol Chem 2009, 284:23502-23516.
20. Sawkar A.R., Adamski-Werner S.L., Cheng W.C., Wong C.H., Beutler E., Zimmer K.P., et al. Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles. Chem Biol 2005, 12:1235-1244.
21. Kawasaki K., Nishio A., Nakamura H., Uchida K., Fukui T., Ohana M., et al. Helicobacter felis-induced gastritis was suppressed in mice overexpressing thioredoxin-1. Lab Invest 2005, 85:1104-1117.
22. Vaccaro A.M., Muscillo M., Tatti M., Salvioli R., Gallozzi E., Suzuki K. Effect of a heat-stable factor in human placenta on glucosylceramidase, glucosylsphingosine glucosyl hydrolase, and acid β-glucosidase activities. Clin Biochem 1987, 20:429-433.
23. Sawkar A.R., Cheng W.C., Beutler E., Wong C.H., Balch W.E., Kelly J.W. Chemical chaperones increase the cellular activity of N370S β-glucosidase: a therapeutic strategy for Gaucher disease. Proc Natl Acad Sci USA 2002, 99:15428-15433.
24. Schueler U.H., Kolter T., Kaneski C.R., Zirzow G.C., Sandhoff K., Brady R.O. Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease. J Inherit Metab Dis 2004, 27:649-658.
25. Beutler E., Kuhl W., Vaughan L.M. Failure of alglucerase infused into Gaucher disease patients to localize in marrow macrophages. Mol Med 1995, 1:320-324.
26. Oosterhuis B., Storm G., Cornelissen P.J., Su C.A., Sollie F.A., Jonkman J.H. Dose-dependent uricosuric effect of ambroxol. Eur J Clin Pharmacol 1993, 44:237-241.
27. Sun Y., Ran H., Liou B., Quinn B., Zamzow M., Zhang W., et al. Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse. PLoS One 2011, 6:e19037.