Increased Oxidative Stress and Impaired Antioxidant Response in Lafora Disease

  title={Increased Oxidative Stress and Impaired Antioxidant Response in Lafora Disease},
  author={C. Rom{\'a}-Mateo and C. Aguado and J. L. Garc{\'i}a-Gim{\'e}nez and J. S. Ib{\'a}{\~n}ez-Cabellos and M. Seco-Cervera and F. Pallard{\'o} and E. Knecht and P. Sanz},
  journal={Molecular Neurobiology},
  • C. Romá-Mateo, C. Aguado, +5 authors P. Sanz
  • Published 2014
  • Biology, Medicine
  • Molecular Neurobiology
  • Lafora disease (LD, OMIM 254780, ORPHA501) is a fatal neurodegenerative disorder characterized by the presence of glycogen-like intracellular inclusions called Lafora bodies and caused, in the vast majority of cases, by mutations in either EPM2A or EPM2B genes, encoding respectively laforin and malin. In the last years, several reports have revealed molecular details of these two proteins and have identified several processes affected in LD, but the pathophysiology of the disease still remains… CONTINUE READING
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