Article
Pathological study of mice with total deficiency of sphingolipid activator proteins (SAP knockout mice).
Acta neuropathologica - 1 Jul 1998
Oya Y, Nakayasu H, Fujita N, Suzuki K, Suzuki K
Abstract excerpt
Sphingolipid activator proteins (SAPs) A to D are lysosomal factors required in degradation of sphingolipids with short hydrophilic head groups and are derived from a precursor protein. Sap-B deficiency causes a variant of metachromatic leukodystrophy and sap-C deficiency causes a variant of Gaucher disease. Human total SAP deficiency has been reported in two patients in a single family. In these cases, various...
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