Article
Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease.
Human molecular genetics - 15 Jun 2014
Duran Jordi, Gruart Agnès, García-Rocha Mar, Delgado-García José M, Guinovart Joan J
Abstract excerpt
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...
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