Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD develop cytoplasmic, aberrant glycogen inclusions in nearly all tissues that more closely resemble plant starch than human glycogen. This Minireview discusses the unique window into glycogen metabolism that LD research offers. It also highlights recent discoveries, including that glycogen contains covalently bound phosphate and that neurons synthesize glycogen and express both glycogen synthase and glycogen phosphorylase.
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This work was supported by the National Institutes of Health under Award Numbers R01NS070899 (to M. S. G.), P01NS097197 (to M. S. G.), R01NS056454 (to P. J. R.), and R01DK037221 (to P. J. R.); a Mitzutani Foundation for Glycoscience award 130095 (to M. S. G.); a National Science Foundation CAREER award MCB-1252345 (to M. S. G.); and Ministerio de Economia de Spain, Industria y Competitividad Grants SAF2014-59594-R (to J. M. S.) and SAF2014-55525-P (to J. J. G.).
Gentry, Matthew S.; Guinovart, Joan J.; Minassian, Berge A.; Roach, Peter J.; and Serratosa, Jose M., "Lafora Disease Offers a Unique Window into Neuronal Glycogen Metabolism" (2018). Molecular and Cellular Biochemistry Faculty Publications. 137.