Studies on Lysosomal Storage Diseases in Cell Culture: Niemann-Pick Disease Type D
The Niemann-Pick group of diseases are characterized by varying degrees of central nervous system involvement, hepatosplenomegaly, foam-cells in the bone marrow, and variably increased amounts of sphingomyelin, cholesterol, glycosphingolipids and bis(monoacylglycero) phosphate in visceral organs (1–6). In some forms of the disease, the primary defect is a deficiency of the lysosomal sphingomyelinase (EC 188.8.131.52 sphingomyelin choline phosphohydrolase) with activity levels less than 10% of normal (2,6,7). In other forms of the disease, sphingomyelin storage is less marked (2,3,5), sphingomyelinase activities are normal or variably reduced (3–7), and abnormalities in cholesterol esterification have been noted in some (8).
KeywordsCholesterol Hydrolysis Phosphorus Chloroform Trypsin
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