Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease.

  title={Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease.},
  author={Jordi Dur{\'a}n and Agn{\`e}s Gruart and Mar Garc{\'i}a-Rocha and Jos{\'e} Mar{\'i}a Delgado-Garc{\'i}a and Joan J. Guinovart},
  journal={Human molecular genetics},
  volume={23 12},
Lafora disease is a fatal neurodegenerative condition characterized by the accumulation of abnormal glycogen inclusions known as Lafora bodies. It is an autosomal recessive disorder caused by mutations in either the laforin or malin gene. To study whether glycogen is primarily responsible for the neurodegeneration in Lafora disease, we generated malin knockout mice with impaired (totally or partially) glycogen synthesis. These animals did not show the increase in markers of neurodegeneration… CONTINUE READING
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