Sandhoff K, Kolter T
Institut für Organische Chemie und Biochemie der Universität, Bonn.
Naturwissenschaften. 1995 Sep;82(9):403-13.
Glycosphingolipids (GSL) form cell-type-specific patterns on the surface of eukaryotic cells. For the maintenance of these patterns, biosynthesis, intracellular transport, and degradation of GSL are thought to proceed in a coordinated fashion. After transport from the plasma membrane to the lysosomes the degradation of GSL requires protein cofactors to solubilize the membrane-bound substrates of the degradative enzymes. Inborn errors of metabolism leading to defective hydrolases or activator proteins give rise to sphingolipid storage diseases; in some cases the residual enzyme activity can be correlated with the clinical manifestations.
糖鞘脂（GSL）在真核细胞表面形成细胞类型特异性模式。为维持这些模式，人们认为GSL的生物合成、细胞内运输和降解以协调的方式进行。从质膜运输到溶酶体后，GSL的降解需要蛋白质辅因子来溶解降解酶的膜结合底物。导致水解酶或激活蛋白缺陷的先天性代谢错误会引发鞘脂贮积病；在某些情况下，残余酶活性可与临床表现相关联。
