Transgenic mice expressing human glucocerebrosidase variants: Utility for the study of Gaucher disease

Blood Cells, Molecules, and Diseases

Volumn 51, Issue 2, 2013, Pages 109-115

  Sanders, Angela ^a   Hemmelgarn, Harmony ^a   Melrose, Heather L ^b   Hein, Leanne ^c   Fuller, Maria ^c   Clarke, Lorne A ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b MAYO GRADUATE SCHOOL   (United States)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

Gaucher disease; Glucocerebrosidase; Pharmacological chaperones; Sphingolipids; Transgenics

Indexed keywords

AMBROXOL; CHAPERONE; GLUCOSYLCERAMIDASE; SPHINGOLIPID;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL INFILTRATION; CONTROLLED STUDY; ENZYME SYNTHESIS; EXPERIMENTAL MODEL; GAUCHER DISEASE; GENE MUTATION; GENETIC TRAIT; HUMAN; LIPID METABOLISM; MOUSE; MOUSE STRAIN; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN TARGETING; SPLEEN CELL; TISSUE LEVEL; TRANSGENIC MOUSE; TREATMENT DURATION;

AMBROXOL; ANIMALS; CEREBELLUM; CEREBRAL CORTEX; DISEASE MODELS, ANIMAL; ENZYME ACTIVATION; FEMALE; GAUCHER DISEASE; GENE EXPRESSION; GENETIC VARIATION; GENOTYPE; GLUCOSYLCERAMIDASE; HUMANS; IMINO PYRANOSES; LIVER; MALE; MICE; MICE, TRANSGENIC; MUTATION; PHENOTYPE; SPLEEN;

ANIMALIA; MURINAE; MUS; MUS MUSCULUS;

EID: 84878398412     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2013.03.006     Document Type: Article

References (32)

1. Farfel-Becker T., Vitner E.B., Futerman A.H. Animal models for Gaucher disease research. Dis. Model Mech. 2011, 4:746-752.
2. Grabowski G.A., Petsko G.A., Kolodny E.H. Gaucher disease. Scriver's Online Metabolic and Molecular Bases of Inherited Disease 2010, (http://dx.doi.org/10.1036/ommbid.172. Published January 2006. Chapter 146: revised). D. Valle, A.L. Beaudet, B. Vogelstein, K.W. Kinzler (Eds.).
3. Grabowski G.A. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet 2008, 372:1263-1271.
4. Sidransky E., Nalls M.A., Aasly J.O., Aharon-Peretz J., Annesi G., Barbosa E.R., et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N. Engl. J. Med. 2009, 361:1651-1661.
5. Mazzulli J.R., Xu Y.-H., Sun Y., Knight A.L., McLean P.J., Caldwell G.A., et al. Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 2011, 146:37-52.
6. Cox T.M. Gaucher disease: clinical profile and therapeutic developments. Biologics 2010, 4:299-313.
7. Pastores G.M., Barnett N.L., Kolodny E.H. An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24months of treatment. Clin. Ther. 2005, 27:1215-1227.
8. Tybulewicz V.L., Tremblay M.L., LaMarca M.E., Willemsen R., Stubblefield B.K., Winfield S., et al. Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature 1992, 357:407-410.
9. Sinclair G.B., Jevon G., Colobong K.E., Randall D.R., Choy F.Y.M., Clarke L.A. Generation of a conditional knockout of murine glucocerebrosidase: utility for the study of Gaucher disease. Mol. Genet. Metab. 2007, 90:148-156.
10. Enquist I.B., Nilsson E., Ooka A., Månsson J.-E., Olsson K., Ehinger M., et al. Effective cell and gene therapy in a murine model of Gaucher disease. Proc. Natl. Acad. Sci. U. S. A. 2006, 103:13819-13824.
11. Mistry P.K., Liu J., Yang M., Nottoli T., McGrath J., Jain D., et al. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc. Natl. Acad. Sci. U. S. A. 2010, 107:19473-19478.
12. Liu Y., Suzuki K., Reed J.D., Grinberg A., Westphal H., Hoffmann A., et al. Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure. Proc. Natl. Acad. Sci. U. S. A. 1998, 95:2503-2508.
13. Mizukami H., Mi Y., Wada R., Kono M., Yamashita T., Liu Y., et al. Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage. J. Clin. Invest. 2002, 109:1215-1221.
14. Xu Y.-H., Quinn B., Witte D., Grabowski G.A. Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease. Am. J. Pathol. 2003, 163:2093-2101.
15. Sun Y., Quinn B., Witte D.P., Grabowski G.A. Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants. J. Lipid Res. 2005, 46:2102-2113.
16. Bernier V., Lagacé M., Bichet D.G., Bouvier M. Pharmacological chaperones: potential treatment for conformational diseases. Trends Endocrinol. Metab. 2004, 15:222-228.
17. Morello J.P., Salahpour A., Laperrière A., Bernier V., Arthus M.F., Lonergan M., et al. Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants. J. Clin. Invest. 2000, 105:887-895.
18. Suzuki Y., Ogawa S., Sakakibara Y. Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activities. Perspect. Med. Chem. 2008, 3:7-19.
19. Ellgaard L., Molinari M., Helenius A. Setting the standards: quality control in the secretory pathway. Science 1999, 286:1882-1888.
20. Khanna R., Benjamin E.R., Pellegrino L., Schilling A., Rigat B.A., Soska R., et al. The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase. FEBS J. 2010, 277:1618-1638.
21. Maegawa G.H.B., 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.
22. Bendikov-Bar I., Ron I., Filocamo M., Horowitz M. Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant. Blood Cells Mol. Dis. 2011, 46:4-10.
23. Ron I., Horowitz M. ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum. Mol. Genet. 2005, 14:2387-2398.
24. Kornhaber G.J., Tropak M.B., Maegawa G.H., Tuske S.J., Coales S.J., Mahuran D.J., et al. Isofagomine induced stabilization of glucocerebrosidase. ChemBioChem 2008, 9:2643-2649.
25. Lieberman R.L., D'aquino J.A., Ringe D., Petsko G.A. Effects of pH and iminosugar pharmacological chaperones on lysosomal glycosidase structure and stability. Biochemistry 2009, 48:4816-4827.
26. Tropak M.B., Kornhaber G.J., Rigat B.A., Maegawa G.H., Buttner J.D., Blanchard J.E., et al. Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry. ChemBioChem 2008, 9:2650-2662.
27. Zimran A., Altarescu G., Elstein D. Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease. Blood Cells Mol. Dis. 2013, 50:134-137.
28. Giasson B.I., Uryu K., Trojanowski J.Q., Lee V.M. Mutant and wild type human alpha-synucleins assemble into elongated filaments with distinct morphologies in vitro. J. Biol. Chem. 1999, 274:7619-7622.
29. Fujiwara H., Hasegawa M., Dohmae N., Kawashima A., Masliah E., Goldberg M.S., et al. Alpha-synuclein is phosphorylated in synucleinopathy lesions. Nat. Cell Biol. 2002, 4:160-164.
30. Matsuda T., Cepko C.L. Electroporation and RNA interference in the rodent retina in vivo and in vitro. Proc. Natl. Acad. Sci. U. S. A. 2004, 101:16-22.
31. Camper S.A. Research applications of transgenic mice. Biotechniques 1987, 5:638-650.
32. Folch J., Lees M., Sloane Stanley G.H. A simple method for the isolation and purification of total lipids from animal tissues. J. Biol. Chem. 1957, 226:497-509.