Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease.

@article{Nitschke2013HyperphosphorylationOG,
  title={Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease.},
  author={Felix Nitschke and Peixiang Wang and Peter Schmieder and Jean-Marie Girard and Donald E. Awrey and Tony Wang and Johan Israelian and Xiaochu Zhao and Julie Turnbull and Matthias Heydenreich and Erich Kleinpeter and Martin Steup and Berge A Minassian},
  journal={Cell metabolism},
  year={2013},
  volume={17 5},
  pages={
          756-67
        }
}
Laforin or malin deficiency causes Lafora disease, characterized by altered glycogen metabolism and teenage-onset neurodegeneration with intractable and invariably fatal epilepsy. Plant starches possess small amounts of metabolically essential monophosphate esters. Glycogen contains similar phosphate amounts, which are thought to originate from a glycogen synthase error side reaction and therefore lack any specific function. Glycogen is also believed to lack monophosphates at glucosyl carbon C6… CONTINUE READING

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Dimeric quaternary structure of human laforin.

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Glycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, Lafora disease.

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