Gentry, Matthew S.Guinovart, Joan J.Minassian, Berge A.Roach, Peter J.Serratosa, Jose M.2019-08-152019-08-152018-05-11Gentry, M. S., Guinovart, J. J., Minassian, B. A., Roach, P. J., & Serratosa, J. M. (2018). Lafora disease offers a unique window into neuronal glycogen metabolism. The Journal of biological chemistry, 293(19), 7117–7125. doi:10.1074/jbc.R117.803064https://hdl.handle.net/1805/20399Lafora 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.en-USPublisher PolicyE3 ubiquitin ligaseEpilepsyGlycogenGlycogen storage diseaseLafora disease (Lafora progressive myoclonic epilepsy, MELF)PhosphatasePhosphorylationCarbohydrate binding moduleArticle