Global ETD Search
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Showing 1 to 3 of 3 for “"Lafora disease"”.
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Glycogen metabolism in Lafora disease
… and has been a point of interest with respect to Lafora disease, a fatal form of juvenile myoclonus epilepsy. Mutations in either the EPM2A or EPM2B genes, which encode laforin and malin respectively, account for ~90% of disease cases. A characteristic of Lafora disease is the formation of Lafora …
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Multimethodological approaches to tackle glycogen: therapeutic and modelling opportunities in Lafora disease
… pathological hallmark of many neurodegenerative diseases. However, such a paradigm does not universally prevail. Indeed, some neurological glycogen storage disorders manifest through the accumulation of aberrant glycogen into polyglucosan bodies (PGBs). These include Lafora disease (LD), a lethal …
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Phosphorylation of polyglycans, especially glycogen and starch
… the progressive neurodegenerative epilepsy, Lafora disease, is the result of a defective enzyme (laforin) that is functional equivalent to the starch phosphatase SEX4 and capable of glycogen dephosphorylation. Patients lacking laforin progressively accumulate unphysiologically structured …