This thesis was an investigation of laforin, malin, and AMPK and the possible relationships
these proteins share with glycogen content. Rats underwent a 24 h fast followed by a 24 h re …

Lafora disease, a progressive myoclonus epilepsy, is an autosomal recessive disease
caused in about 45% of cases by mutation of the EPM2A gene, which encodes a dual …

This thesis examined laforin and malin responses to exercise in human skeletal muscle and
possible relationships with glycogen content. As well relationships between AMP-activated …

Lafora disease (LD) is an autosomal recessive neurodegenerative disease that results in
progressive myoclonus epilepsy and death. LD is caused by mutations in either the E3 …

Lafora disease (LD) is a rare autosomal recessive disorder manifesting as a progressive
myoclonic epilepsy. LD is characterized by the formation of Lafora bodies, insoluble …

Glycogen, the repository of glucose in many cell types, contains small amounts of covalent
phosphate, of uncertain function and poorly understood metabolism. Loss-of-function …

Lafora disease is a progressive myoclonus epilepsy caused by mutations in the EPM2A or
EPM2B genes that encode a glycogen phosphatase, laforin, and an E3 ubiquitin ligase …

Lafora disease is a fatal, progressive myoclonus epilepsy caused in∼ 90% of cases by
mutations in the EPM2A or EPM2B genes. Characteristic of the disease is the formation of …

In the human body, glycogen is a branched polymer of glucose stored mainly in the liver and
the skeletal muscle that supplies glucose to the blood stream during fasting periods and to …

Lafora progressive myoclonus epilepsy (LD) is a fatal autosomal recessive
neurodegenerative disorder characterized by the presence of glycogen-like intracellular …