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- W2054588762 abstract "The storage material isolated from the brains of patients with infantile neuronal ceroid-lipofuscinosis (INCL) contains, on average, 43% protein and 35% lipids on a dry weight basis. Recently we identified the major storage proteins as sphingolipid activator proteins (SAPs) A and D by direct sequencing. In the present study we used monospecific anti-sap-B-, anti-sap-C, and anti-sap-D-antisera in immunohistochemical and Western analyses to show that sap-D is, indeed, an integral component of the storage bodies. In contrast, no (or little) immunoreactivity for sap-B or sap-C was detected in the INCL storage granules. This observation is of interest for an understanding of the pathogenesis because the four SAPs are produced from a single precursor protein by proteolytic cleavage. Furthermore, we analysed the stored lipids on high performance thin layer chromatography combined with different staining techniques. In this preliminary analysis we found two glycosphingolipids, yet to be identified, to be common for all INCL patients." @default.
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- W2054588762 date "1995-06-01" @default.
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- W2054588762 title "Sphingolipid activator proteins (SAPS) are stored together with glycosphingolipids in the infantile neuronal ceroid-lipofuscinosis (INCL)" @default.
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- W2054588762 doi "https://doi.org/10.1002/ajmg.1320570236" @default.
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