The unique evolution of the carbohydrate‐binding module CBM20 in laforin
Sign Up to like & getrecommendations! Published in 2018 at "FEBS Letters"
DOI: 10.1002/1873-3468.12994
Abstract: Laforin catalyses glycogen dephosphorylation. Mutations in its gene result in Lafora disease, a fatal progressive myoclonus epilepsy, the hallmark being water‐insoluble, hyperphosphorylated carbohydrate inclusions called Lafora bodies. Human laforin consists of an N‐terminal carbohydrate‐binding module… read more here.
Keywords: cbm20 laforin; carbohydrate binding; binding module; laforin ... See more keywords
Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease
Sign Up to like & getrecommendations! Published in 2017 at "EMBO Molecular Medicine"
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