Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease

@inproceedings{VallesOrtega2011NeurodegenerationAF,
  title={Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease},
  author={Jordi Valles-Ortega and Jordi Dur{\'a}n and Mar Garc{\'i}a-Rocha and Carles Bosch and Isabel Saez and Llu{\'i}s Pujadas and Anna M. Serafin and Xavier Ca{\~n}as and Eduardo Soriano and Jos{\'e} Mar{\'i}a Delgado-Garc{\'i}a and Agn{\`e}s Gruart and Joan J. Guinovart},
  booktitle={EMBO molecular medicine},
  year={2011}
}
Lafora disease (LD) is caused by mutations in either the laforin or malin gene. The hallmark of the disease is the accumulation of polyglucosan inclusions called Lafora Bodies (LBs). Malin knockout (KO) mice present polyglucosan accumulations in several brain areas, as do patients of LD. These structures are abundant in the cerebellum and hippocampus. Here, we report a large increase in glycogen synthase (GS) in these mice, in which the enzyme accumulates in LBs. Our study focused on the… CONTINUE READING
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