Article
Increased oxidative stress and impaired antioxidant response in Lafora disease.
Molecular neurobiology - 1 Jan 2015
Romá-Mateo Carlos, Aguado Carmen, García-Giménez José Luis, Ibáñez-Cabellos José Santiago, Seco-Cervera Marta, Pallardó Federico V, Knecht Erwin, Sanz Pascual
Abstract excerpt
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...
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