Abstract
In fibroblasts newly synthesized lysosomal enzymes are transported to the lysosomes by means of the mannose 6-phosphate markerreceptor system [1]. This transport mechanism is defective in fibroblasts from patients with Mucolipidosis II (I-cell disease), since most of the precursor forms of the lysosomal enzymes are missing the mannose-6-phosphate recognition site. The primary defect in I-cell disease is a deficiency of UDP-N-acetylglucosamine-l-phosphotransferase [2, 3]. This enzyme catalyzes the transfer of N-acetylglucosamine phosphate to some of the mannose residues of lysosomal precursors.
Collaborators for some of the work: Dr. J.M. Tager (Medical Enzymology & Metabolism Section, Academic Medical Centre, University of Amsterdam) and Dr. J.A. Barranger (Molecular & Medical Genetics Section, NIH, Bethesda, MD).
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References
Sly, W.S. & Fisher, H.D. (1982) J. Cell Biochem. 18, 67–85.
Hasilik, A., Waheed, A. & van Figura, K. (1981) Biochem. Biophys. Res. Comm. 98, 761–767.
Reitman, M.L., Varki, A. & Kornfeld, S. (1981) J. Clin. Invest. 67, 1574–1579.
Leroy, J.G., Ho, M.W., MacBrinn, M.C., Zielke, K., Jacob, J. & O’Brien, J.S. (1972) Pediat. Res. 6, 752–757.
Hickman. S. & Neufeld, E.F. (1972) Biochem. Biophys. Res. Comm. 49, 992–999.
van Dongen, J.M., Willemsen, R., Ginns, E.I., Sips, H., Tager, J.M., Barranger, J.A. & Reuser, A.J.J. (1985) Eur. J. Cell Biol. 39, 179–189.
Griffiths, G., Brands, R., Burke, S., Louvard, D. & Warren, G. (1982) J. Cell Biol. 95, 781–782.
Reuser, A.J.J., Kroos, M., Oude Elferink, R.P.J. & Tager, J.M. (1985)J. Biol. Chem. 260, 8336–8342.
Ginns, E.I., Brady, R.O., Pirrucello, S., Moore, C., Sorrell, S., Furbish, F.S., Murray, G.J., Tager, J.M. & Barranger, J.A. (1982) Proc. Nat. Acad. Sci. 79, 5607–5610.
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© 1987 Plenum Press, New York
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Willemsen, R., Hoogeveen, A.T., Reuser, A.J.J., van Dongen, J.M. (1987). Immunoelectron Microscopical Localization of Lysosomal Hydrolases in Normal and I-Cell Fibroblasts. In: Reid, E., Cook, G.M.W., Luzio, J.P. (eds) Cells, Membranes, and Disease, Including Renal. Methodological Surveys in Biochemistry and Analysis, vol 17. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-1283-3_13
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DOI: https://doi.org/10.1007/978-1-4684-1283-3_13
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