Targeting pathogenic Lafora bodies in Lafora disease using an antibody-enzyme fusion

Abstract excerpt

Lafora disease (LD) is a fatal childhood epilepsy and a non-classical glycogen storage disorder with no effective therapy or cure. LD is caused by recessive mutations in the EPM2A or EPM2B genes that encode the glycogen phosphatase laforin and an E3 ubiquitin ligase malin, respectively. A hallmark of LD is the intracellular accumulation of abnormal and insoluble α-linked polysaccharide deposits known as Lafora b...

Topics

Open a Topic to create a Post that cites this publication.

• Autophagy
• Dual-Specificity Phosphatases
• Lafora Disease
• Mice, Inbred C57BL
• Mice, Knockout
• Mice, Transgenic
• Phosphorylation
• Protein Tyrosine Phosphatases, Non-Receptor

Identifiers and source

Literature Corpus work

96128388-9aac-53ff-9af8-29ecbc8aa269

DOI

10.1101/679407