Abstract
Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD develop cytoplasmic, aberrant glycogen inclusions in nearly all tissues that more closely resemble plant starch than human glycogen. This Minireview discusses the unique window into glycogen metabolism that LD research offers. It also highlights recent discoveries, including that glycogen contains covalently bound phosphate and that neurons synthesize glycogen and express both glycogen synthase and glycogen phosphorylase.
Original language | English |
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Pages (from-to) | 7117-7125 |
Number of pages | 9 |
Journal | Journal of Biological Chemistry |
Volume | 293 |
Issue number | 19 |
DOIs | |
State | Published - May 11 2018 |
Bibliographical note
Publisher Copyright:© 2018 by The American Society for Biochemistry and Molecular Biology, Inc.
ASJC Scopus subject areas
- Biochemistry
- Molecular Biology
- Cell Biology