Abnormal expression ofα-L-fucosidase in lymphoid cell lines of fucosidosis patients (original) (raw)
References
Bozon, D., Tarentino, A. L., Trimble, R. B., and Maley, F. E. (1986). Characterization of cellular oligosaccharides from normal and cystic fibrotic fibroblasts using sequential endoglycosidase digestions.Arch. Biochem. Biophys.249546. Google Scholar
Bradford, M. (1976). A rapid and sensitive method for quantitation of microgram quantities of protein utilizing the principle of protein-dye binding.Anal. Biochem.72248. Google Scholar
Darby, J. K., Willems, P. J., Nakashima, P., Johnson, J., Ferrell, R. E., Wijsman, E. M., Gerhard, D., Dracopoli, N. C., Housman, D., Henke, J., Fowler, M. L., Shows, T. B., O'Brien, J. S., and Cavalli-Sforza, L. L. (1988). Restriction analysis of the structural_α_-L-fucosidase gene and its linkage to fucosidosis.Am. J. Hum. Genet.43749. Google Scholar
DiCioccio, R. A., and Brown, K. S. (1988). Biosynthesis, processing and extracellular release of_α_-L-fucosidase in lymphoid cell lines of different genetic origins.Biochem. Genet.26401. Google Scholar
DiCioccio, R. A., Barlow, J. J., and Matta, K. L. (1986). Specific activity of_α_-L-fucosidase in sera with phenotypes of either low, intermediate, or high total enzyme activity and in a fucosidosis serum.Biochem. Genet.24115. Google Scholar
Durand, P., Gatti, R., and Borrone, C. (1982). Fucosidosis. In Durand, P., and O'Brien, J. S. (eds.),Genetic Errors of Glycoprotein Metabolism Edi Ermes, Milano, Italy, pp. 49–87. Google Scholar
Fahey, J. L., Buell, D. N., and Sox, H. C. (1971). Proliferation and differentiation of lymphoid cells: Studies with human lymphoid cell lines and immunoglobulin synthesis.Ann. N.Y. Acad. Sci.190221. Google Scholar
Gatti, R., Cavalieri, S., and Romeo, G. (1979). Relationship between_α_-L-fucosidase deficiency in plasma and_α_-L-fucosidase in leucocytes.Hum. Genet.4823. Google Scholar
Johnson, K., and Dawson, G. (1985). Molecular defect in processing of_α_-L-fucosidase in fucosidosis.Biochem. Biophys. Res. Commun.13390. Google Scholar
Kornfeld, S. (1986). Trafficking of lysosomal enzymes in normal and disease states.J. Clin. Invest.771. Google Scholar
Kretz, K. A., Darby, J. K., Willems, P. J., and O'Brien, J. S. (1988). Characterization of the Eco R1 mutation in fucosidosis patients: A stop codon in the reading frame.J. Mol. Neuroscience, in press.
Ng, W. G., Donnell, G. N., Koch, R., and Bergren, W. R. (1976). Biochemical and genetic studies of plasma and leucocyte_α_-L-fucosidase.Am. J. Hum. Genet.2842. Google Scholar
Tarentino, A. L., Gomez, C. M., and Plummer, T. H. (1985). Deglycosylation of asparagine linked glycans by peptide: N-Glycanase F.Biochemistry244665. Google Scholar
Turner, B. M., Beraitis, N. G., Turner, V. S., and Hirschhorn, K. (1975). Silent allele as genetic basis of fucosidosis.Nature27391. Google Scholar
Van Hoof, F., and Hers, H. G. (1968). Mucopolysaccharidosis by absence of_α_-L-fucosidase.Lancet11198. Google Scholar
Willems, P. J., Darby, J. K., DiCioccio, R. A., Nakashima, P., Eng, C., Kretz, K. A., Cavalli-Sforza, L. L., Shooter, E. M., and O'Brien, J. S. (1988). Identification of a mutation in the structural_α_-L-fucosidase gene in fucosidosis.Am. J. Hum. Genet.43756. Google Scholar
Wood, S. (1979). Human_α_-L-fucosidase: A common, polymorphic variant for low serum enzyme activity, studies of serum and leucocyte enzyme.Hum. Hered.29226. Google Scholar