In vitro accumulation of glucocerebroside in neuroblastoma cells: A model for study of Gaucher disease pathobiology

Journal of Neuroscience Research

Volumn 43, Issue 3, 1996, Pages 365-371

  Prence, E M ^a,b,c   Chaturvedi, P ^a,b   Newburg, D S ^a,b  

^a Shriver Ctr for Mental Retardation   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

Author keywords

glucosidase; glycosphingolipids; neuronal cells; SH SY5Y cells

Indexed keywords

BETA GLUCOSIDASE; GLUCOSYLCERAMIDE; GLYCOSPHINGOLIPID; LYSOSOME ENZYME;

ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GAUCHER DISEASE; GENE MUTATION; HUMAN; HUMAN CELL; LIPID METABOLISM; LYSOSOME STORAGE DISEASE; NEUROBLASTOMA CELL; NEUROPATHOLOGY; PRIORITY JOURNAL;

ALPHA-MANNOSIDASE; BETA-GALACTOSIDASE; BETA-GLUCOSIDASE; CELL LINE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDES; GLYCOLIPIDS; HUMANS; INOSITOL; KINETICS; LYSOSOMES; MANNOSIDASES; MICROSCOPY, ELECTRON; MODELS, BIOLOGICAL; NEUROBLASTOMA; TUMOR CELLS, CULTURED;

EID: 0030020497     PISSN: 03604012     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4547(19960201)43:3<365::AID-JNR11>3.0.CO;2-4     Document Type: Article

References (32)

1. Atsumi S, Nosaka C, Iinuma H, Umezawa K (1992): Inhibition of glucocerebrosidase and induction of neural abnormality by cyclophellitol in mice. Arch Biochem Biophys 297:362-367.
2. Barranger JA, Ginns EI (1989): Glucosylceramide lipidoses: Gaucher disease. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): "The Metabolic Basis of Inherited Disease." New York: McGraw-Hill, pp 1677-1698.
3. Beutler E (1993): Gaucher disease as a paradigm of current issues regarding single gene mutations in humans. Proc Natl Acad Sci USA 90:5384-5390.
4. Biedler JL, Helson L, Spengler BA (1973): Morphology and growth, tumorgenicity, and cytogenetics of human neuroblastoma cells in continuous culture. Cancer Res 33:2643-2652.
5. Conradi NG, Sourander P, Nilsson O, Svennerholm L, Erikson A (1984): Neuropathology of the Norrbottnian type of Gaucher disease. Acta Neuropathol (Berl) 65:99-109.
6. Daniels LB, Glew RH, Radin NS, Vunnam RR (1980): A revised fluorometric assay for Gaucher's disease using conduritol-β-epoxide with liver as the source of β-glucosidase. Clin Chim Acta 106:155-163.
7. Erikson A (1995): Norrbottnian patients with Gaucher disease. In Sidransky E, Elliot JM (eds): "Proceedings of the NIH Technology Assessment Conference on Gaucher Disease." Bethesda, MD: National Institutes of Health, pp 67-68.
8. Folch J, Lees M, Sloane Stanley GH (1957): A simple method for the isolation and purification of total lipides from animal tissues J Biol Chem 226:497-509.
9. Gery I, Zigler JS Jr, Brady RO, Barranger JA (1981): Selective effects of glucocerebroside (Gaucher's storage material) on macrophage cultures. J Clin Invest 68:1182-1189.
10. Glew RH, Basu A, LaMarco KL, Prence EM (1988): Biology of disease. Mammalian glucocerebrosidase: Implications for Gaucher's disease. Lab Invest 58:5-25.
11. Grafe M, Thomas C, Schneider J, Katz B, Wiley C (1988): Infantile Gaucher's disease: A case with neuronal storage. Ann Neurol 23:300-303.
12. Hannun YA (1994): The sphingomyelin cycle and the second messenger function of ceramide. J Biol Chem 269:3125-3128.
13. Hannun YA, Bell RM (1989): Functions of sphingolipids and sphingolipid breakdown products in cellular regulation. Science 243: 500-507.
14. Kanfer JN, Legler G, Sullivan J, Raghavan SS, Mumford RA (1975): The Gaucher mouse. Biochem Biophys Res Commun 67:85-90.
15. Knudson AG Jr, Kaplan WD (1962): Genetics of glycosphingolipidoses. In Aronson SM, Volk BW (eds): "Cerebral Sphingolipidoses. A Symposium on Tay-Sachs' Disease and Allied Disorders." New York: Academic Press, pp 395-411.
16. Legler G (1966): Untersuchungen zum Wirkungsmechanisms glykosidspaltender Enzyme, I. Darstellung und Eigenschaften spezifischer Inaktivatoren. Hoppe-Seylers Z Physiol Chem 345: 197-214.
17. Lowry O, Rosebrough N, Farr A, Randall R (1951): Protein measurement with the Folin phenol reagent. J Biol Chem 193:265-275.
18. McKinney CE, LaMarca ME, Yoshikawa H, Stubblefield BK, Winfield S, Cannon L, Martin BM, Sidransky E, Ginns EI (1994): Murine models of Gaucher disease: Generation of chimeric mice carrying the N370S point mutation by homologous recombination in embryonic stem cells. In Whelan WJ et al. (eds): "Proceedings of Miami 1994 Bio/Technology Winter Symposia. Advances in Gene Technology: Molecular Biology and Human Disease." Oxford: IRL Press, p 49.
19. Newburg DS, Chaturvedi P (1992): Neutral glycolipids of human and bovine milk. Lipids 27:923-927.
20. Newburg DS, Shea TB, Yatziv S, Raghavan SS, McCluer RH (1988): Macrophages exposed in vitro to conduritol B epoxide resemble Gaucher cells Exp Mol Pathol 48:317-323.
21. Newburg DS, Yatziv S, McCluer RH, Raghavan S (1986): β-glucosidase inhibition in murine peritoneal macrophages by conduritol-B-epoxide: An in vitro model of the Gaucher cell. Biochim Biophys Acta 877:121-126.
22. O'Brien JS, Carson GS, Seo H-C, Hiraiwa M, Kishimoto Y (1994): Identification of prosaposin as a neurotrophic factor. Proc Natl Acad Sci USA 91:9593-9596.
23. Prence EM, Natowicz MR (1992): Diagnosis of α-mannosidosis by measuring α-mannosidase in plasma. Clin Chem 38:501-503.
24. Prence EM, Natowicz MR, Zalewski I (1993): Unusual thermolability properties of leukocyte β-hexosaminidase: Implications in screening for carriers of Tay-Sachs disease. Clin Chem 39: 1811-1814.
25. Saito M, Rosenberg A (1985): The fate of glucosylceramide (glucocerebroside) in genetically impaired (lysosomal β-glucosidase deficient) Gaucher disease diploid human fibroblasts. J Biol Chem 260:2295-2300.
26. Sato T (1967): A modified method for lead staining of thin sections. J Electron Microsc 16:133-136.
27. Shea TB, Beermann ML, Leli U, Nixon RA (1992): Opposing influences of protein kinase activities on neurite outgrowth in human neuroblastoma cells: Initiation by kinase A and restriction by kinase C. J Neurosci Res 33:398-407.
28. M1-gangliosidosis. In Glew RH, Peters SP (eds): "Practical Enzymology of the Sphingolipidoses." Laboratory Research Methods in Biology and Medicine, Vol. 1., New York: Alan R. Liss, Inc. pp 101-136.
29. Svennerholm L, Dreborg S, Erikson A, Groth CG, Hillborg PO, Hakansson G, Nilsson O, Tibblin E (1982): Gaucher disease of the Norrbottnian type (type III). Phenotypic manifestations. In Desnick RJ, Gatt S, Grabowski GA (eds): ''Gaucher Disease: A Century of Delineation and Research." New York: Alan R. Liss, Inc., pp 67-94.
30. Tybulewicz VLJ, Tremblay ML, LaMarca ME, Willensen R, Stubblefield BK, Winfield S, Zablocka B, Sidransky E, Martin BM, Huang SP, Mintzer KA, Westphal H, Mulligan RC, Ginns EI (1992): Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature 357:407-410.
31. Yatziv S, Newburg DS, Livni N, Barfi G, Kolodny EH (1988): Gaucher-like changes in human blood-derived macrophages induced by β-glucocerebrosidase inhibition. J Lab Clin Med 111: 416-420.
32. Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E (1991): High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet 49:855-859.