Abnormal Metabolism of Glycogen Phosphate as a Cause for Lafora Disease

Lafora disease is a progressive myoclonus epilepsy with onset in the teenage years followed by neurodegeneration and death within 10 years. A characteristic is the widespread formation of poorly branched, insoluble glycogen-like polymers (polyglucosan) known as Lafora bodies, which accumulate in neu...

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Hlavní autoři: Tagliabracci, Vincent S., Girard, Jean Marie, Segvich, Dyann, Meyer, Catalina, Turnbull, Julie, Zhao, Xiaochu, Minassian, Berge A., DePaoli-Roach, Anna A., Roach, Peter J.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2008
Témata:
Metabolism and Bioenergetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2590708/
https://ncbi.nlm.nih.gov/pubmed/18852261
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M807428200
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