Stabilising normal and mis-sense variant α-glucosidase

FEBS Letters

Volumn 580, Issue 18, 2006, Pages 4365-4370

  Kakavanos, Revecca ^a,b   Hopwood, John J ^a,b   Lang, Debbie ^a   Meikle, Peter J ^a,b   Brooks, Doug A ^a,b  

^a Lysosomal Diseases Research Unit   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

Glucosidase; Enzyme enhancement; Enzyme stability; Pompe disease

Indexed keywords

ALPHA GLUCOSIDASE; GLUCOSE;

ANIMAL CELL; ARTICLE; CELL FUNCTION; CLINICAL ARTICLE; CONTROLLED STUDY; CULTURE MEDIUM; ENZYME ACTIVITY; ENZYME INHIBITION; ENZYME STRUCTURE; ENZYME THERAPY; FEMALE; GENETIC STABILITY; GENETIC VARIABILITY; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN CELL; NONHUMAN; PRIORITY JOURNAL; PROTEIN SYNTHESIS;

ALPHA-GLUCOSIDASES; ANIMALS; BUTYRIC ACID; CHO CELLS; CRICETINAE; CRICETULUS; ENZYME STABILITY; FIBROBLASTS; GLUCOSE; GLYCOGEN STORAGE DISEASE TYPE II; IDURONIDASE; KINETICS; MUTATION, MISSENSE; RECOMBINANT PROTEINS; SULFATASES;

EID: 33746343030     PISSN: 00145793     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.febslet.2006.06.096     Document Type: Article

References (29)

1. Brown B.I., Brown D.H., and Jeffrey P.L. Simultaneous absence of alpha-1,4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease. Biochemistry 9 (1970) 1423-1428
2. Hers H.G. α-Glucosidase deficiency in generalised glycogen-storage disease (Pompe's disease). Biochem. J. 86 (1963) 11-16
3. Hirschhorn R., and Reuser A.J.J. Glycogen storage disease type II; acid α-glucosidase (acid maltase) deficiency. In: Scriver C.R., Beaudet A.L., Valle D., and Sly W.S. (Eds). The Metabolic and Molecular Bases of Inherited Diseases. 8th edn. Vol. 3 (2001), McGraw-Hill, New York 3389-3420
4. Hermans M.M.P., van Leenen D., Kroos M.A., Beesley C.E., van der Ploeg A.T., Sakuraba H., Wevers R., Kleijer W., Michelakakis H., Kirk E.P., et al. Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. Hum. Mutat. 23 (2004) 47-56
5. Reuser A.J., Koster J.F., Hoogeveen A., and Galjaard H. Biochemical, immunological, and cell genetic studies in glycogenesis type II. Am. J. Hum. Genet. 30 (1978) 132-143
6. Umapathysivam K., Hopwood J.J., and Meikle P.J. Correlation of acid α-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease. Clin. Chim. Acta 361 (2005) 191-198
7. Van den Hout J.M., Kamphoven J.H., Winkel L.P., Arts W.F., De Klerk J.B., Loonen M.C., Vulto A.G., Cromme-Dijkhuis A., Weisglas-Kuperus N., Hop W., et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 113 (2004) 448-457
8. Kishnani P., Voit T., Nicolino M., Tsai C.-H., Herman G., Waterson J., Amalfitano A., Charrow J., Tiller G., Schaefer B., et al. Enzyme replacement therapy for infantile onset Pompe disease: long term follow-up results. Mol. Gen. Metab. 81 (2004) 169
9. Winkel L.P., Van den Hout J.M., Kamphoven J.H., Disseldorp J.A., Remmerswaal M., Arts W.F., Loonen M.C., Vulto A.G., Van Doorn P.A., De Jong G., et al. Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann. Neurol. 55 (2004) 495-502
10. Klinge L., Straub V., Neudorf U., Schaper J., Bosbach T., Gorlinger K., Wallot M., Richards S., and Voit T. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul. Disord. 15 (2005) 24-31
11. Fuller M., Van der Ploeg A., Reuser A.J., Anson D.S., and Hopwood J.J. Isolation and characterisation of a recombinant, precursor form of lysosomal acid alpha-glucosidase. Eur. J. Biochem. 234 (1995) 903-909
12. Van Hove J.L., Yang H.W., Wu J.Y., Brady R.O., and Chen Y.T. High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease. Proc. Natl. Acad. Sci. USA 93 (1996) 65-70
13. Van Hove J.L., Yang H.W., Oliver L.M., Pennybacker M.F., and Chen Y.T. Purification of recombinant human precursor acid alpha-glucosidase. Biochem. Mol. Biol. Int. 43 (1997) 613-623
14. Sawkar A.R., Cheng W.C., Beutler E., Wong C.H., Balch W.E., and Kelly J.W. Chemical chaperones increase the cellular activity of N370S beta-glucosidase: a therapeutic strategy for Gaucher disease. Proc. Natl. Acad. Sci. USA 99 (2002) 15428-15433
15. Matsuda J., Suzuki O., Oshima A., Yamamoto Y., Noguchi A., Takimoto K., Itoh M., Matsuzaki Y., Yasuda Y., Ogawa S., et al. Chemical chaperone therapy for brain pathology in GM1-gangliosidosis. Proc. Natl. Acad. Sci. USA 100 (2003) 15912-15917
16. Okumiya T., Ishii S., Takenaka T., Kase R., Kamei S., Sakuraba H., and Suzuki Y. Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease. Biochem. Biophys. Res. Commun. 214 (1995) 1219-1224
17. Fan J.Q., Ishii S., Asano N., and Suzuki Y. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat. Med. 5 (1999) 112-115
18. Tropak M.B., Reid S.P., Guiral M., Withers S.G., and Mahuran D. Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients. J. Biol. Chem. 279 (2004) 13478-13487
19. Desnick R.J. Enzyme replacement and enhancement therapies for lysosomal diseases. J. Inherit. Metab. Dis. 27 (2004) 385-410
20. Conzelmann E., and Sandhoff K. Partial enzyme deficiencies: residual activities and the development of neurological disorders. Dev. Neurosci. 6 (1983-84) 58-71
21. Umapathysivam K., Whittle A.M., Ranieri E., Bindloss C., Ravenscroft E.M., van Diggelen O.P., Hopwood J.J., and Meikle P.J. Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders. Clin. Chem. 46 (2000) 1318-1325
22. Unger E.G., Durrant J., Anson D.S., and Hopwood J.J. Recombinant alpha-l-iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts. Biochem. J. 304 (1994) 43-49
23. Anson D.S., Muller V., Bielicki J., Harper G.S., and Hopwood J.J. Overexpression of N-acetylgalactosamine-4-sulphatase induces a multiple sulphatase deficiency in mucopolysaccharidosis-type-VI fibroblasts. Biochem. J. 294 (1993) 657-662
24. Fujimoto A., and Fluharty A.L. The change in the pH 4 and pH 6 forms of alpha-glucosidase in cultured amniotic fluid cells and its implication in prenatal diagnosis of Pompe's disease. Clin. Chim. Acta 90 (1978) 157-161
25. Clements P.R., Muller V., and Hopwood J.J. Human alpha-l-iduronidase. 2. Catalytic properties. Eur. J. Biochem. 152 (1985) 29-34
26. r values. Biochem. J. 248 (1987) 755-764
27. Oude Elferink R.P., Brouwer-Kelder E.M., Surya I., Strijland A., Kroos M., Reuser A.J.J., and Tager J.M. Isolation and characterization of a precursor form of lysosomal alpha-glucosidase from human urine. Eur. J. Biochem. 139 (1984) 489-495
28. Lowry O.H., Rosebrough N.J., Farr A.L., and Randall R.J. Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193 (1951) 265-275
29. Frustaci A., Chimenti C., Ricci R., Natale L., Russo M.A., Pieroni M., Eng C.M., and Desnick R.J. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N. Engl. J. Med. 345 (2001) 25-32