The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation

Blood Cells, Molecules, and Diseases

Volumn 46, Issue 1, 2011, Pages 19-26

  Dekker, Nick ^a   Voorn Brouwer, Tineke ^a   Verhoek, Marri ^a   Wennekes, Tom ^b   Narayan, Ravi S ^a   Speijer, Dave ^a   Hollak, Carla E M ^a   Overkleeft, Hermen S ^b   Boot, Rolf G ^a   Aerts, Johannes M F G ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b LEIDEN UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDE; HYMECROMONE GLUCURONIDE; RECOMBINANT ENZYME;

ALPHA HELIX; ARTICLE; CELL CULTURE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME DEGRADATION; ENZYME INHIBITION; GAUCHER DISEASE; GAUCHER DISEASE TYPE 1; GENETIC TRANSFECTION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYDROLYSIS; MAJOR CLINICAL STUDY; MOLECULAR CLONING; OPEN READING FRAME; PRIORITY JOURNAL; WILD TYPE;

ANIMALS; BETA-GLUCOSIDASE; CELL LINE; CERCOPITHECUS AETHIOPS; COS CELLS; GAUCHER DISEASE; HEK293 CELLS; HUMANS; MODELS, MOLECULAR; SUBSTRATE SPECIFICITY;

EID: 78650824268     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2010.07.009     Document Type: Article

References (32)

1. Glew R.H., Peters S.P., Christopher A.R. Isolation and characterization of β-glucosidase from the cytosol of rat kidney cortex. Biochim. Biophys. Acta 1976, 422:179-1992.
2. Daniels L.B., Coyle P.J., Chiao Y.B., Glew R.H., Labow R.S. Purification and characterization of a cytosolic broad specificity β-glucosidase from human liver. J. Biol. Chem. 1981, 256:13004-13013.
3. Gopalan V., Pastuszyn A., Galey W.R., Glew R.H. Exolytic hydrolysis of toxic plant glucosides by guinea pig liver cytosolic β-glucosidase. J. Biol. Chem. 1992, 267:14027-14032.
4. Yahata K., Mori K., Arai H., Koide S., Ogawa Y., Mukoyama M., Sugawara A., Ozaki S., Tanaka I., Nabeshima Y., Nakao K. Molecular cloning and expression of a novel klotho-related protein. J. Mol. Med. 2000, 78:389-394.
5. Gopalan V., Daniels L.B., Glew R.H., Claeyssens M. Kinetic analysis of the interaction of alkyl glycosides with two human β-glucosidases. Biochem. J. 1989, 262:541-548.
6. Hayashi Y., Okino N., Kakuta Y., Shikanai T., Tani M., Narimatsu H., Ito M. Klotho-related protein is a novel cytosolic neutral β-glycosylceramidase. J. Biol. Chem. 2007, 282:30889-30900.
7. de Graaf M., van Veen I.C., van der Meulen-Muileman I.H., Gerritsen W.R., Pinedo H.M., Haisma H.J. Cloning and characterization of human liver cytosolic β-glycosidase. Biochem. J. 2001, 356:907-910.
8. Henrissat B. A classification of glycosyl hydrolases based on amino-acid sequence similarities. Biochem. J. 1991, 280(Pt 2):309-316.
9. Tribolo S., Berrin J.G., Kroon P.A., Czjzek M., Juge N. The crystal structure of human cytosolic β-glucosidase unravels the substrate aglycone specificity of a family 1 glycoside hydrolase. J. Mol. Biol. 2007, 370:964-975.
10. Németh K., Plumb G.W., Berrin J.G., Juge N., Jacob R., Naim H.Y., Williamson G., Swallow D.M., Kroon P.A. Deglycosylation by small intestinal epithelial cell β-glucosidases is a critical step in the absorption and metabolism of dietary flavonoid glycosides in humans. Eur. J. Nutr. 2003, 42:29-42.
11. Henry-Vitrac C., Desmouliere A., Girard D., Merillon J.M., Krisa S. Transport, deglycosylation, and metabolism of trans-piceid by small intestinal epithelial cells. Eur. J. Nutr. 2006, 45:376-382.
12. Barranger J.A., Ginns E.I. The metabolic basis of inherited disease 1989, 1677-1698. McGraw-Hill, New York. 2nd Ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
13. Hollak C.E., van Weely S., van Oers M.H., Aerts J.M. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J. Clin. Invest. 1994, 93:1288-1292.
14. Boot R.G., Verhoek M., de Fost M., Hollak C.E., Maas M., Bleijlevens B., van Breemen M.J., van Meurs M., Boven L.A., Laman J.D., Moran M.T., Cox T.M., Aerts J.M. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood 2004, 103:33-39.
15. Boven L.A., van Meurs M., Boot R.G., Mehta A., Boon L., Aerts J.M., Laman J.D. Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am. J. Clin. Pathol. 2004, 122:359-369.
16. van Weely S., Brandsma M., Strijland A., Tager J.M., Aerts J.M. Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease. Biochim. Biophys. Acta 1993, 1181:55-62.
17. Boot R.G., Verhoek M., Donker-Koopman W., Strijland A., van Marle J., Overkleeft H.S., Wennekes T., Aerts J.M. Identification of the non-lysosomal glucosylceramidase as β-glucosidase 2. J. Biol. Chem. 2007, 282:1305-1312.
18. Yildiz Y., Matern H., Thompson B., Allegood J.C., Warren R.L., Ramirez D.M., Hammer R.E., Hamra F.K., Matern S., Russell D.W. Mutation of β-glucosidase 2 causes glycolipid storage disease and impaired male fertility. J. Clin. Invest. 2006, 116:2985-2994.
19. Owada M., Sakiyama T., Kitagawa T. Neuropathic Gaucher's disease with normal 4-methylumbelliferyl-β-glucosidase activity in the liver. Pediatr. Res. 1977, 11:641-646.
20. Forsyth G.W., Romero K.M., Alverson J., van der Jagt D.J., Glew R.H. Variable expression of leukocyte cytosolic broad-specificity β-glucosidase activity. Clin. Chim. Acta 1993, 216:11-21.
21. Beutler E., Beutler L., West C. Mutations in the gene encoding cytosolic β-glucosidase in Gaucher disease. J. Lab. Clin. Med. 2004, 144:65-68.
22. van Weely S., van Leeuwen M.B., Jansen I.D., de Bruijn M.A., Brouwer-Kelder E.M., Schram A.W., Sa Miranda M.C., Barranger J.A., Petersen E.M., Goldblatt J., Stotz H., Schwarzmann G., Sandhoff K., Svennerholm L., Erikson A., Tager J.M., Aerts J.M.F.G. Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts. Biochim. Biophys. Acta 1991, 1096:301-311.
23. Boot R.G., Hollak C.E., Verhoek M., Sloof P., Poorthuis B.J., Kleijer W.J., Wevers R.A., van Oers M.H., Mannens M.M., Aerts J.M., van Weely S. Glucocerebrosidase genotype of Gaucher patients in the Netherlands: limitations in prognostic value. Hum. Mutat. 1997, 10:348-358.
24. Zimran A., Sorge J., Gross E., Kubitz M., West C., Beutler E. Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet 1989, 2:349-352.
25. Zimran A., Kay A., Gelbart T., Garver P., Thurston D., Saven A., Beutler E. Gaucher disease: clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine (Baltimore) 1992, 71:337-353.
26. Overkleeft H.S., Renkema G.H., Neele J., Vianello P., Hung I.O., Strijland A., van der Burg A.M., Koomen G.J., Pandit U.K., Aerts J.M. Generation of specific deoxynojirimycin-type inhibitors of the non-lysosomal glucosylceramidase. J. Biol. Chem. 1998, 273:26522-26527.
27. Compain P., Martin O.R., Boucheron C., Godin G., Yu L., Ikeda K., Asano N. Design and synthesis of highly potent and selective pharmacological chaperones for the treatment of Gaucher's disease. ChemBioChem 2006, 7:1356-1359.
28. Wennekes T., van den Berg R.J.B.H.N., Boltje T.J., Donker-Koopman W.E., Kuijper B., van der Marel G.A., Strijland A., Verhagen C.P., Aerts J.M.F.G., Overkleeft H.S. Synthesis and evaluation of lipophilic aza-c-glycosides as inhibitors of glucosylceramide metabolism. Eur. J. Org. Chem. 2010, 1258-1283.
29. Groener J.E., Poorthuis B.J., Kuiper S., Helmond M.T., Hollak C.E., Aerts J.M. HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma. Clin. Chem. 2007, 53:742-747.
30. LaMarco K.L., Glew R.H. Galactosylsphingosine inhibition of the broad-specificity cytosolic β-glucosidase of human liver. Arch. Biochem. Biophys. 1985, 236:669-676.
31. Nilsson O., Svennerholm L. Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J. Neurochem. 1982, 39:709-718.
32. Orvisky E., Park J.K., Lamarca M.E., Ginns E.I., Martin B.M., Tayebi N., Sidransky E. Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype. Mol. Genet. Metab. 2002, 76:262-270.