Abstract
GM1-GANGLIOSIDOSIS is an inherited lysosomal storage disease which is due to a deficiency of the acid hydrolase GM1-β-galactosidase1. During the past few years several clinical variants have been described2–6 that differ in time of onset of symptoms, involvement of visceral organs or skeletal tissue and in the degree of neuronal and mental deterioration. Some of these variants have been related to different properties of the deficient β-galactosidases5,7 but the significance of the experimental data8 has been questioned. Several investigators have speculated on the genetic background of the different variants2,8,9 but no experimental evidence has been provided to support the hypotheses.
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References
Okada, S., and O'Brien, J. S., Science, 160, 1002–1004 (1968).
Wolfe, L. S., Callahan, J., Fawcett, J. S., Andermann, F., and Scriver, C. R., Neurology, 20, 23–44 (1970).
O'Brien, J. S., in Advances in Human Genetics (edit. by Harris, H., and Hirschhorn, K.), 3, 39–98 (Plenum, New York, 1972).
Lowden, J. A., Callahan, J. W., Norman, M. G., Thain, M., and Pritchard, J. S., Archs. Neurol, 31, 200–203 (1974).
Pinsky, L., Miller, J., Stanfield, B., Watters, G., and Wolfe, L. S., Am. J. hum. Genet., 26, 563–577 (1974).
Loonen, M. C. B., Lugt, van der L., and Franke, C. L., Lancet, ii, 785 (1974).
Pinsky, L., Powell, E., and Callahan, J., Nature, 228, 1093–1095 (1970).
Suzuki, Y., and Suzuki, K., J. biol. Chem., 249, 2113–2117 (1974).
O'Brien, J. S., Clin. Genet. (in the press).
Weerd-Kastelein, E. A., de, Keijzer, W., and Bootsma, D., Nature, 238, 80–83 (1972).
Galjaard, H., Hoogeveen, A., Wit-Verbeek, H. A. de, Reuser, A. J. J., Keijzer, W., Westerveld, A., and Bootsma, D., Expl Cell Res., 87, 444–448 (1974).
Thomas, G. H., Taylor, H. A., Miller, C. S., Axelman, J., and Migeon, B. R., Nature, 250, 580–582 (1974).
Harris, H., and Watkins, J. F., Nature, 105, 640–646 (1965).
Lowry, O. H., Rosebrough, N. J., Farr, A. L., and Randall, R. J., J. biol. Chem., 193, 265–275 (1951).
Galjaard, H., Hoogeveen, A., Keijzer, W., Wit-Verbeek, H. A. de, and Vlek-Noot, C., Histochem. J., 491–509 (1974).
Ho, M. W., Cheetham, P., and Robinson, D., Biochem. J., 136, 351–359 (1973).
Galjaard, H., Reuser, A. J. J., Heukels-Dully, M. J., Hoogeveen, A., Keijzer, W., Wit-Verbeek, H. A. de, and Niermeijer, M. F., in Enzyme Therapy in Lysosomal Storage Disease (edit. by Tager, J. M., Hooghwinkel, G. J. M., and Daems, W. T.), 35–51 (North Holland, Amsterdam, 1974).
Galjaard, H., Hoogstraten, J. J. van, Josselin de Jong, J. E. de, and Muldcr, M. P., Histochem J., 6, 409–429 (1974).
Killander, D., and Zetterberg, A., Expl Cell Res., 38, 272–284 (1965).
Norden, A. G. W., and O'Brien, J. S., Archs. Biochem., 159, 383–392 (1973).
Norden, A. G. W., Tennant, L., and O'Brien, J. S., J. biol. Chem., 249, 7969–7976 (1974).
Meisler, M., and Ratazzi, M. C., Am. J. hum. Genet., 26, 683–691 (1974).
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GALJAARD, H., HOOGEVEEN, A., KEIJZER, W. et al. Genetic heterogeneity in GM1-gangliosidosis. Nature 257, 60–62 (1975). https://doi.org/10.1038/257060a0
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DOI: https://doi.org/10.1038/257060a0
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