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  • Title: Immunological studies on sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses.
    Author: Haltia M, Tyynelä J, Baumann M, Henseler M, Sandhoff K.
    Journal: Gerontology; 1995; 41 Suppl 2():239-48. PubMed ID: 8821335.
    Abstract:
    The neuronal ceroid-lipofuscinoses constitute an important group of progressive encephalopathies leading to severe psychomotor retardation, blindness, and early death. They are characterized by accumulation of autofluorescent, electron-dense storage bodies within the cytoplasm of neurons and many other cell types. We have recently identified sphingolipid activator proteins A and D as major components of the storage cytosomes in the infantile form of NCL. Using an immunological approach we have shown that sphingolipid activator proteins also constitute an integral component of the storage bodies in the other major forms of the disease.
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