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Biochim Biophys Acta. 2008 Apr;1781(4):145-83. doi: 10.1016/j.bbalip.2008.01.004. Epub 2008 Feb 2.

Functions of sphingolipid metabolism in mammals--lessons from genetic defects.

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INSERM, U858, Toulouse, France.


Much is known about the pathways that control the biosynthesis, transport and degradation of sphingolipids. During the last two decades, considerable progress has been made regarding the roles this complex group of lipids play in maintaining membrane integrity and modulating responses to numerous signals. Further novel insights have been provided by the analysis of newly discovered genetic diseases in humans as well as in animal models harboring mutations in the genes whose products control sphingolipid metabolism and action. Through the description of the phenotypic consequences of genetic defects resulting in the loss of activity of the many proteins that synthesize, transport, bind, or degrade sphingolipids, this review summarizes the (patho)physiological functions of these lipids.

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