Candidate molecules for chemical chaperone therapy of GM1- gangliosidosis

Future Medicinal Chemistry

Volumn 5, Issue 13, 2013, Pages 1551-1558

  Higaki, Katsumi ^a   Ninomiya, Haruaki ^a   Suzuki, Yoshiyuki ^b   Nanba, Eiji ^a  

^a TOTTORI UNIVERSITY   (Japan)

^b INTERNATIONAL UNIVERSITY OF HEALTH AND WELFARE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

6S NBI DEOXYGALACTONOJIRIMYCIN; ALPHA GALACTOSIDASE; BETA GALACTOSIDASE; CHAPERONE; DLHEX DGJ; FLUOROUS IMINOALDITOLS; GALACTOSE; LYSOSOME ENZYME; N OCTYL 4 EPI BETA VALIENAMINE; NB DGJ; NN DNJ; PROTEIN P62; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOPHAGY; BLOOD BRAIN BARRIER; BRAIN CORTEX; BRAIN STEM; CONTROLLED STUDY; DRUG REPOSITIONING; ENDOPLASMIC RETICULUM; ENZYME REPLACEMENT; FABRY DISEASE; FIBROBLAST; GAUCHER DISEASE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GLYCOGEN STORAGE DISEASE TYPE 2; GM1 GANGLIOSIDOSIS; GOLGI COMPLEX; HUMAN; IC 50; IN VITRO STUDY; IN VIVO STUDY; MOUSE; NONHUMAN; PARKINSON DISEASE; PHASE 3 CLINICAL TRIAL (TOPIC); PHENOTYPE; PRIORITY JOURNAL; PROTEIN FOLDING; STRUCTURE ACTIVITY RELATION; THERAPY EFFECT;

1-DEOXYNOJIRIMYCIN; ANIMALS; BETA-GALACTOSIDASE; GANGLIOSIDOSIS, GM1; GENOTYPE; HEXOSAMINES; HUMANS; LYSOSOMES; MUTATION; SMALL MOLECULE LIBRARIES;

EID: 84884269282     PISSN: 17568919     EISSN: 17568927     Source Type: Journal    
DOI: 10.4155/fmc.13.123     Document Type: Article

References (72)

1. Balch WE, Morimoto RI, Kelly JW. Adapting proteostasis for disease intervention. Science 319(5865), 916-919 (.2009
2. Cohen FE, Kelly JW. Therapeutic approaches to protein-misfolding diseases. Nature 426(6968), 905-909 (.2003
3. Ong DS, Kelly JW. Chemical and/or biological therapeutic strategies to ameliorate protein misfolding disease. Curr. Opin. Cell Biol. 23(2), 231-238 (.2011
4. Platt FM, Walkley SU. Lysosomal defect and storage. In: Lysosomal Disorders of the Brain. Platt FM, Walkley SU (.Eds). Oxford University Press, Oxford, UK, 381-408 (.2004
5. Lieberman AP, Puertollano R, Raben N et al. Autophagy in lysosomal storage disorders. Autophagy 8(5), 719-730 (.2012
6. Platt FM, Boland B, van der Spoel AC. Lysosomal storage disorders: The cellular impact of lysosomal dysfunction. J. Cell Biol. 199(5), 723-734 (.2012
7. Braulke T, Banifacino JS. Sorting of lysosomal proteins. Biochim. Biophys. Acta 1793(4), 605-614 (.2009
8. Beck M. Therapy for lysosomal storage disorders. IUBMB Life 62(1), 33-40 (.2010
9. Brady RO, Schiffmann R. Enzyme-replacement therapy for metabolic storage disorders. Lancet Neurol. 3(12), 752-756 (.2004
10. Desnick RJ, Schuchman EH. Enzyme replacement therapy for lysosomal storage diseases: Lessons from 20 years of experience and remaining challenges. Ann. Rev. Genomics Hum. Genet. 13, 307-335 (.2012
11. Mehta A, Beck M, Elliott P et al. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: An analysis of registry data. Lancet 374(9706), 1986-1996 (.2009
12. Kraoua I, Sedel F, Caillaud C et al. A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients. Brain Dev. 33, 131-139 (.2011
13. Dickson P, McEntee M, Vogler C et al. Intrathecal enzyme replacement therapy: Successful treatment of brain disease via the cerebrospinal fluid. Mol. Genet. Metab. 91(1), 61-68 (.2007
14. Grubb JH, Volger C, Levy B, Galvin N, Tan Y, Sly WS. Chemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII. Proc. Natl. Acad. Sci. USA 105(7), 2616-2621 (.2008
15. Byrne BJ, Falk DJ, Clément N, Mah CS. Gene therapy approach for lysosomal storage disease: Next-generation treatment. Hum. Gene Ther. 23(8), 808-815 (.2012
16. Butters TD, Dwek RA, Platt FM. Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses. Glycobiology 15(10), 43R-52R (.2005
17. 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 116(20), 4095-4098 (.2010
18. Suzuki Y. Chaperone therapy for GM1- gangliosidosis. Cell Mol. Life Sci. 65(3), 351-353 (.2008
19. Fan JQ, Ishii S, Asano N, Suzuki Y. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat. Med. 5(1), 112-115 (.1999
20. Wu X, Katz E, Della Valle MC et al. A pharmacogenetic approach to identify mutant forms of a-galactosidase A that respond to a pharmacological chaperone for Fabry disease. Hum. Mutat. 32(8), 965-977 (.2011
21. Suzuki Y, Nanba E, Matsuda J, Higaki K, Oshima A. b-galactosidase deficiency (.b-galactosidosis): GM1 gangliosidosis and Morquio B disease. In: The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, NY, USA, 1-101 (.2008
22. Brunetti-Pierri N, Scaglia F. GM1- gangliosidosis: Review of clinical, molecular, and therapeutic aspects. Mol. Genet. Metab. 94, 391-396 (.2008
23. Caciotti A, Garman SC, Rivera-Colón Y et al. GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings. Biochim. Biophys. Acta 1812(7), 782-790 (.2011
24. Paschke E, Milos I, Kreimer-Erlacher H et al. Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: Three novel point mutations and high correlation of mutation W273L with Morquio disease type B. Hum. Mutat. 109(2), 159-166 (.2001
25. Santamaria R, Chabás A, Coll MJ, Miranda CS, Vilageliu L, Grinberg D. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B: Possible common origin for the prevalent p.R59H mutation among gypsies. Hum. Mutat. 27(10), 1060 (.2006
26. Hofer D, Paul K, Beck M et al. GM1 gangliosidosis and Morquio B disease: Expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. Hum. Mutat. 30(8), 1214-1221 (.2009
27. Sperb F, Vairo F, Burin M, Mayer FQ, Matte U, Giugliani R. Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis. Gene 512(1), 113-116 (.2013
28. Oshima A, Tsuji A, Nagao Y, Sakuraba H, Suzuki Y. Cloning, sequencing, and expression of cDNA for human beta-galactosidase. Biochem. Biophys. Res. Commun. 157(1), 238-244 (.1988
29. Callahan JW. Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein. Biochim. Biophys. Acta 1455(2-3), 85-103 (.1998
30. Oshima A, Yoshida K, Itoh K, Kase R, Sakuraba H, Suzuki Y. Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (.beta-galactosidosis). Hum. Genet. 93(2), 109-114 (.1994
31. Ohto U, Usui K, Ochi T, Yuki K, Satow Y, Shimizu T. Crystal structure of human b-galactosidase. J. Biol. Chem. 287(3), 1801-1812 (.2012
32. Tominaga L, Ogawa Y, Taniguchi M et al. Galactonojirimycin derivatives restore mutant human b-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse. Brain Dev. 23(5), 284-287 (.2001
33. Ogawa S, Matsunaga YK, Suzuki Y. Chemichal modification of the b-glucocerebrosidase inhibitor N-octyl-b-valienamine: Synthesis and biological evaluation of 4-epimeric and 4-O-(b-D-galactopyranosyl) derivatives. Bioorg. Med. Chem. 10(6), 1967-1972 (.2002
34. Matsuda J, Suzuki O, Oshima A et al. Chemical chaperone therapy for brain pathology in GM1-gangliosidosis. Proc. Natl Acad. Sci. USA 100(26), 15912-15917 (.2003
35. Iwasaki H, Watanabe H, Iida M et al. Fibroblast screening for chaperone therapy in b-galactosidosis. Brain Dev. 28(8), 482-486 (.2006
36. Higaki K, Linjing L, Bahrudin U et al. Chemical chaperone therapy: Chaperone effect on mutant enzyme and cellular pathophysiology in b-galactosidase deficiency. Hum. Mutat. 32(7), 843-852 (.2011
37. Matsuda J, Suzuki O, Oshima A et al. Beta-galactosidase-deficient mouse as an animal model for GM1-gangliosidosis. Glycoconj. J. 14(6), 729-736 (.1997
38. Takamura A, Higaki K, Ninomiya H et al. Lysosomal accumulation of Trk protein in brain of GM1 gangliosidosis mouse and its restoration by chemical chaperone. J. Neurochem. 118(3), 399-406 (.2011
39. Suzuki Y, Ichinomiya S, Kurosawa M et al. Chemical chaperone therapy: Clinical effect in murine GM1-gangliosidosis. Ann. Neurol. 62(6), 671-675 (.2007
40. Suzuki Y, Ichinomiya S, Kurosawa M et al. Therapeutic chaperone effect of N-octyl 4-epi-beta-valienamine on murine GM1- gangliosidosis. Mol. Genet. Metab. 106(1), 92-98 (.2012
41. Luan Z, Higaki K, Aguilar-Moncayo M et al. A fluorescent sp2-iminosugar with pharmacological chaperone activity for Gaucher disease: Cellular uptake and intracellular distribution studies. ChemBioChem 11(17), 2453-2464 (.2010
42. Luan Z, Higaki K, Aguilar-Moncayo M et al. Chaperone activity of bicyclic nojirimycin analogues for Gaucher mutations in comparison with N-(n-nonyl)- deoxynojirimycin. ChemBioChem 10(17), 2780-2792 (.2009
43. Brumshtein B, Aguilar-Moncayo M, Benito JM et al. Cyclodextrin-mediated crystallization of acid b-glucosidase in complex with amphiphilic bicyclic nojirimycin analogues. Org. Biomol. Chem. 9(10), 4160-4167 (.2011
44. Aguilar-Moncayo M, Takai T, Higaki K et al. Tuning glycosidase inhibition through aglycone interactions: Pharmacological chaperones for Fabry disease and GM1 gangliosidosis. Chem. Commun. 48(52), 6514-6516 (.2012
45. Takai T, Aguilar-Moncayo M, Higaki K et al. A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. Mol. Ther. 21(3), 526-532 (.2013
46. Suzuki Y. Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease. Brain Dev. 35(6), 515-523 (.2013
47. Takamura A, Higaki K, Kajimaki K et al. Enhanced autophagy and mitochondrial aberrations in murine GM1 gangliosidosis. Biochem. Biophys. Res. Commun. 367(3), 616-22 (.2008
48. Fantur K, Hofer D, Schitter G et al. DLHex- DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human GM1-gangliosiodis fibroblasts. Mol. Genet. Metab. 100(3), 262-268 (.2010
49. Schitter G, Steiner AJ, Pototschnig G et al. Pluorous iminoalditols: A new family of glycosidase inhibitors and pharmacological chaperones. ChemBioChem 11(14), 2026-2033 (.2010
50. Rigat BA, Tropak MB, Buttner J et al. Evaluation of N-nonyl- deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy. Mol. Genet. Metab. 107(1-2), 203-2012 (.2012
51. Maegawa GH, Tropak M, Buttner J et al. Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. J. Biol. Chem. 282(12), 9150-9161 (.2007
52. Maegawa GH, Tropak M, Buttner J et al. Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J. Biol. Chem. 284(35), 23502-23516 (.2009
53. Clarke JT, Mahuran DJ, Sathe S et al. An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (.Tay-Sachs or Sandhoff variants). Mol. Genet. Metab. 102(1), 6-12 (.2011
54. Luan Z, Higaki K, Nanba E, Suzuki Y, Ohno K. The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice. Brain Dev. 35(4), 317-322 (.2013
55. Zimran A, Altarescu G, Elstein D. Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease. Blood Cells Mol. Dis. 50(2), 134-137 (.2013
56. Offman MN, Krol M, Silman I, Sussman JL, Futerman AH. Molecular basis of reduced glucosylceramidase activity in the most common Gaucher disease mutant N370S. J. Biol. Chem. 285(53), 42105-42114 (.2010
57. Jo H, Yugi K, Ogawa S, Suzuki Y, Sakakibara Y. Molecular basis of chemical chaperone effects of N-octyl-b-valienamine on human b-glucosidase in low/neutral pH conditions. J. Proteomics Bioinform. 3(4), 104-112 (.2010
58. Guce AI, Clark NE, Rogich JJ, Garman SC. The molecular basis of pharmacological chaperoning in human a-galactosidase. Chem. Biol. 18(12), 1521-1526 (.2011
59. Porto C, Ferrara MC, Meli M et al. Pharmacological enhancement of a-glucosidase by the allosteric chaperone N-acetylcysteine. Mol. Ther. 20(12), 2201-2211 (.2012
60. Patnaik S, Zheng W, Choi JH et al. Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase. J. Med. Chem. 55(12), 5734-48 (.2012
61. Xiao J, Westbroek W, Motabar O et al. Discovery of a novel nonimunosugar acid a glucosidase chaperone series. J. Med. Chem. 55(17), 7546-7559 (.2012
62. Tiscornia G, Lorenzo Vivas E, Matalonga L et al. Neuronopathic Gaucher's disease: Induced pluripotent stem cells for disease modeling and testing chaperone activity of small compounds. Hum. Mol. Genet. 22(4), 633-645 (.2013
63. Germain DP, Giugliani R, Hughes DA et al. Safety and pharmacodynamic effects of a pharmacological chaperone on a-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: Report from two Phase 2 clinical studies. Orphanet J. Rare Dis. 7, 91 (.2012
64. Porto C, Pisani A, Rosa M et al. Pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts with Fabry disease. J. Inherit. Metab. Dis. 35(3), 513-520 (.2012
65. Benjamin ER, Khanna R, Schilling A et al. Co-administration with the pharmacological chaperone AT1001 increases recombinant human a-galactosidase A tissue uptake and improves substrate reduction in Fabry mice. Mol. Ther. 20(4), 717-726 (.2012
66. Khanna R, Flanagan JJ, Feng J et al. The pharmacological chaperone AT2220 increases recombinant human acid a-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease. PLoS ONE 7(7), e40776 (.2012
67. Aharon-Peretz J, Rosenbaum H, Gershoni- Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Eng. J. Med. 351(19), 1972-1977 (.2004
68. Mitusi J, Mizuta I, Toyoda A et al. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch. Neurol. 66(5), 571-576 (.2009
69. Westbloek W, Gustafson AM, Sidransky E. Exploring the link between glucocerebrosidase mutations and parkinsonism. Trends Mol. Med. 17(9), 485-493 (.2011
70. Ziesch B, Weigel J, Thiele A et al. Tetrahydrobiopterin (.BH4) in PKU: Effect on dietary treatment, metabolic control, and quality of life. J. Inherit. Metab. Dis. 35(6), 983-992 (.2012
71. Kaus JP, Janosik M, Kizich V et al. Cystathionine beta-synthase mutations in homocyctinuria. Hum. Mutat. 13(5), 362-375 (.1999
72. Caciotti A, Donati MA, d'Azzo A et al. The potential action of galactose as a 'chemical chaperone': Increase of beta galactosidase activity in fibroblasts from an adult GM1- gangliosidosis patient. Eur. J. Paediatr. Neurol. 13(2), 160-164 (.2009