Global ETD Search
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Showing 1 to 3 of 3 for “"Laforin"”.
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Glycogen metabolism in Lafora disease
… 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 bodies, which are mainly composed of an excess amount of abnormal glycogen that is poorly branched and insoluble. …
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Multimethodological approaches to tackle glycogen: therapeutic and modelling opportunities in Lafora disease
… in either EPM2A or NHLRC1 genes encoding laforin or malin, respectively. In physiological conditions, malin ubiquitinates its substrates, among which protein targeting to glycogen (PTG), in a laforin-dependent manner. PTG emerged as a master regulator of brain glycogen synthesis. In LD, …
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Phosphorylation of polyglycans, especially glycogen and starch
… 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 insoluble glycogen-derived particles (Lafora bodies) in …