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Immunological studies on lysosomal sphingomyelinase: Identification of a 28 000-Da component deficient in urine from patients with Niemann-Pick disease types A and B

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Bioscience Reports

Abstract

The immunoblotting technique was used to identify sphingomyeJinase protein in samples of tissue and urine after subjection to poIyacrylamide-gel etectrophoresis in the presence of sodium dodecyl sulphate. In a sphingomyelinase preparation purified from control urine a prominent band was seen with an Mr of 28 000 Da. Glycoprotein fractions from urine and placenta, a membrane extract from spleen, and a partially purified sphingomyelinase preparation from placenta contained the 28 000-Da band plus additional, higher-Mr bands. The 28 000-Da band was detectable in urine from a patient with Niemann-Pick disease type C, but not in urine from patients with Niemann-Pick disease types A and B. It is concluded t h a t sphingomyeJinase is composed of at least one polypeptide with an Mr of 28 000 Da and that this polypeptide is deficient in the urine of patients with Niemann-Pick disease types A and B.

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Authors and Affiliations

  1. Section for Medical Enzymology and Metabolism, Laboratory of Biochemistry, University of Amsterdam, P.O. Box 20151, 1000 HD, Amsterdam, The Netherlands

    André W. Schram, Marianne Dreissen, Johan Bastiaannet, Wilma E. Donker-Koopman, Elisabeth M. Brouwer-Kelder & Joseph M. Tager

  2. Institute of Organic Chemistry and Biochemistry, University of Bonn, Gerhard-Domagkstrasse 1, D-5300, Bonn, Germany

    Gabriele Weitz & Konrad Sandhoff

  3. Developmental and Metabolic Neurology Branch, National Institute of Neurological and Communicative Diseases and Stroke, National Institutes of Health, 20205, Bethesda, MD, USA

    John A. Barranger

Authors
  1. André W. Schram
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  2. Marianne Dreissen
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  3. Johan Bastiaannet
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  4. Wilma E. Donker-Koopman
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  5. Elisabeth M. Brouwer-Kelder
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  6. Gabriele Weitz
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  7. John A. Barranger
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  8. Konrad Sandhoff
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  9. Joseph M. Tager
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Schram, A.W., Dreissen, M., Bastiaannet, J. et al. Immunological studies on lysosomal sphingomyelinase: Identification of a 28 000-Da component deficient in urine from patients with Niemann-Pick disease types A and B. Biosci Rep 4, 1051–1057 (1984). https://doi.org/10.1007/BF01116698

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  • DOI: https://doi.org/10.1007/BF01116698

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