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Sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses: an immunological study

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Abstract

The molecular defects underlying neuronal ceroid-lipofuscinoses (NCL) are still unknown. However, more data exist on the composition of the hydrophobic storage material characteristic of NCL. Accumulation of subunit c of the mitochondrial ATP synthase has been shown in most forms of human NCL with the exception of the infantile NCL (INCL) for which we have recently demonstrated storage of sphingolipid activator proteins (SAP). In the present study we raised an antiserum against storage cytosomes purified from INCL brain. Using the anti-INCL antiserum and monospecific SAP antisera, we studied storage material isolated from the brains of patients affected with NCL by Western analysis, and found a 12-kDa protein showing a SAP-like immunoreactivity not only in INCL, but also in all the childhood forms of NCL. Furthermore, using the anti-sap-D antiserum for immunohistochemistry, we observed strong immunoreactivity of the storage cytosomes in all major forms of NCL, and also in tissues of non-neuroectodermal origin. From these data we conclude that the presence of SAP within the storage bodies is a phenomenon common to all major forms of human NCL.

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Authors and Affiliations

  1. Department of Medical Chemistry, University of Helsinki, P.O.Box 8, FIN-00014, Helsinki, Finland

    Jaana Tyynelä & Marc Baumann

  2. Institute for Organic Chemistry and Biochemistry, University of Bonn, Gerhard-Domagk-Strasse 1, D-53 121, Bonn, Germany

    Margarete Henseler & Konrad Sandhoff

  3. Department of Pathology, University of Helsinki, P.O.Box 21, FIN-00014, Helsinki, Finland

    Matti Haltia

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  1. Jaana Tyynelä
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  2. Marc Baumann
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  3. Margarete Henseler
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  4. Konrad Sandhoff
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  5. Matti Haltia
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Tyynelä, J., Baumann, M., Henseler, M. et al. Sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses: an immunological study. Acta Neuropathol 89, 391–398 (1995). https://doi.org/10.1007/BF00307641

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  • DOI: https://doi.org/10.1007/BF00307641

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