Glycogen metabolism in tissues from a mouse model of Lafora disease
نویسندگان
چکیده
منابع مشابه
Inhibiting glycogen synthesis prevents Lafora disease in a mouse model.
Lafora disease (LD) is a fatal progressive myoclonus epilepsy characterized neuropathologically by aggregates of abnormally structured glycogen and proteins (Lafora bodies [LBs]), and neurodegeneration. Whether LBs could be prevented by inhibiting glycogen synthesis and whether they are pathogenic remain uncertain. We genetically eliminated brain glycogen synthesis in LD mice. This resulted in ...
متن کاملNeurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease
Lafora disease (LD) is caused by mutations in either the laforin or malin gene. The hallmark of the disease is the accumulation of polyglucosan inclusions called Lafora Bodies (LBs). Malin knockout (KO) mice present polyglucosan accumulations in several brain areas, as do patients of LD. These structures are abundant in the cerebellum and hippocampus. Here, we report a large increase in glycoge...
متن کاملBRIEF COMMUNICATION Inhibiting Glycogen Synthesis Prevents Lafora Disease in a Mouse Model
Lafora disease (LD) is a fatal progressive myoclonus epilepsy characterized neuropathologically by aggregates of abnormally structured glycogen and proteins (Lafora bodies [LBs]), and neurodegeneration. Whether LBs could be prevented by inhibiting glycogen synthesis and whether they are pathogenic remain uncertain. We genetically eliminated brain glycogen synthesis in LD mice. This resulted in ...
متن کاملGlycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, Lafora disease.
Glycogen is a branched polymer of glucose that acts as an energy reserve in many cell types. Glycogen contains trace amounts of covalent phosphate, in the range of 1 phosphate per 500-2000 glucose residues depending on the source. The function, if any, is unknown, but in at least one genetic disease, the progressive myoclonic epilepsy Lafora disease, excessive phosphorylation of glycogen has be...
متن کاملLafora progressive myoclonus epilepsy: glycogen storage disease vs neurodegenerative disease.
Neurology 2012;79:21–22 Two disease mechanisms operate in Lafora progressive myoclonus epilepsy (Lafora PME) to produce 3 phenotypes (epilepsy, rapid neurologic deterioration, and Lafora polyglucosan inclusion bodies). These 2 disease mechanisms are 1) an error in glycogen metabolism and 2) neurodegeneration. The question is, which comes first and which is primary and more important in disease ...
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ژورنال
عنوان ژورنال: Archives of Biochemistry and Biophysics
سال: 2007
ISSN: 0003-9861
DOI: 10.1016/j.abb.2006.10.017