Glycosphingolipids disorders

Sandhoff, R, HepbildMer, ST, Jennemann, R, Geyer, R, Giesehnann, V, Proia, RL, Wiegandt, H and Grdne, HI (2002) Kidney sulfatides in mouse models of inherited glycosphingolipid disorders. Determination by nano-electrospray ionization tandem mass spectrometry. J Biol Chem, 277, 20386-20398. 

Platt, F. M. and Butters, T. D. Inhibition of substrate synthesis a pharmacological approach for glycosphingolipid storage disease therapy. In F. M. Platt and S. U. Walkley (eds), Lysosomal Disorders of the Brain. New York Oxford University Press, 2004, pp. 381 108. 

Sulfation of the carbohydrate chain occurs after the monosaccharide to be sulfated has been incorporated into the growing carbohydrate j chain. The source of the sulfate is 3 -phosphoadenosyl-5 -phospho-sulfate (PAPS, a molecule of AMP with a sulfate group attached to the 5-phosphate). Sulfotransferases cause the sulfation of the carbohydrate chain at specific sites. [Note An example of the synthesis of a sulfated glycosaminoglycan, chondroitin sulfate, is shown in Figure 14.11.] PAPS is also the sulfur donor in glycosphingolipid synthesis. [Note A defect in the sulfation process results in one of several autosomal recessive disorders that affect the proper development and maintenance of the skeletal system. This illustrates Ihe importance of the sulfation step.]... 

Aerts JM, Hollak CE, Boot RG, Groener JE, Maas M. Substrate reduction therapy of glycosphingolipid storage disorders. 

Glycosphingolipid Ganglioside Biosynthesis Catabolism Nervous system Endoplasmic reticulum Golgi Glycosyltransferase Glycosidase Lipid-storage disorder... 

P. Fredman and A. Lekman Glycosphingolipids as potential diagnostic markers and/or antigens in neurological disorders. Neurochemical Research 22 1071 (1997). 

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