Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.
J Neurochem. 2019 Mar;148(5):600-611. doi: 10.1111/jnc.14540. Epub 2018 Aug 16.
Ceramide, sphingomyelin, and glycosphingolipids (both neutral and acidic) are characterized by the presence in the lipid moiety of an aliphatic base known as sphingosine. Altogether, they are called sphingolipids and are particularly abundant in neuronal plasma membranes, where, via interactions with the other membrane lipids and membrane proteins, they play a specific role in modulating the cell signaling processes. The metabolic pathways determining the plasma membrane sphingolipid composition are thus the key point for functional changes of the cell properties. Unnatural changes of the neuronal properties are observed in sphingolipidoses, lysosomal storage diseases occurring when a lysosomal sphingolipid hydrolase is not working, leading to the accumulation of the substrate and to its distribution to all the cell membranes interacting with lysosomes. Moreover, secondary accumulation of sphingolipids is a common trait of other lysosomal storage diseases. This article is part of the Special Issue "Lysosomal Storage Disorders".
神经酰胺、鞘磷脂和糖脂（中性和酸性）的特点是在脂质部分存在一种称为神经鞘氨醇的脂族碱基。它们统称为鞘脂，在神经元质膜中特别丰富，通过与其他膜脂和膜蛋白相互作用，它们在调节细胞信号转导过程中发挥特定作用。因此，决定质膜鞘脂组成的代谢途径是细胞特性功能变化的关键点。在溶酶体贮积病中观察到神经元特性的异常变化，当溶酶体鞘脂水解酶不能正常工作时，就会发生溶酶体贮积病，导致底物积累，并分布到所有与溶酶体相互作用的细胞膜上。此外，鞘脂的继发性积累是其他溶酶体贮积病的共同特征。本文是“溶酶体贮积症特刊”的一部分。
