Impaired degradation of keratan sulfate in GM1-gangliosidosis |
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Authors: | T Yutaka S Okada T Kato H Yabuuchi |
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Institution: | Department of Pediatrics, Osaka University Medical School, Fukushima, Osaka 553 Japan |
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Abstract: | We have prepared a new radiolabeled substrate (galactose-N-acetylglucosamine 6-sulfate-1-3H]galactitol), from shark cartilage keratan sulfate, for an assay of acid β-galactosidase activity. Using this substrate, we found that there was a striking deficiency of β-galactosidase activity in the cultured skin fibroblasts of patients with GM1-gangliosidosis. However, there seemed to be no quantitative differences in residual enzyme activity between type 1 and type 2 GM1-gangliosidosis. |
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Keywords: | To whom correspondence should be addressed |
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