Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease
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DOI: 10.15252/emmm.201707608
Abstract: Lafora disease (LD) is a fatal progressive epilepsy essentially caused by loss‐of‐function mutations in the glycogen phosphatase laforin or the ubiquitin E3 ligase malin. Glycogen in LD is hyperphosphorylated and poorly hydrosoluble. It precipitates and… read more here.
Keywords: chain; phosphatase; glycogen; laforin ... See more keywords