VS Tagliabracci, C Heiss, C Karthik, CJ Contreras… - Cell Metabolism, 2011 - Elsevier Glycogen is a branched polymer of glucose that serves as an energy store. Phosphate, a trace constituent of glycogen, has profound effects on glycogen structure, and phosphate hyperaccumulation is linked to Lafora disease, a fatal progressive myoclonus epilepsy that can be caused by ... Cited by 3 - All 2 versions
[HTML] from plos.orgVV Dukhande, DM Rogers, C Romá-Mateo… - PloS one, 2011 - dx.plos.org Lafora Disease (LD) is a fatal neurodegenerative epileptic disorder that presents as a neurological deterioration with the accumulation of insoluble, intracellular, hyperphosphorylated carbohydrates called Lafora bodies (LBs). LD is caused by mutations in either the gene encoding laforin ... Cached
[HTML] from plos.orgJ Turnbull, AA DePaoli-Roach, X Zhao, MA Cortez… - 2011 - dx.plos.org Lafora disease (LD) is a fatal epilepsy that afflicts previously normal teenagers. It is caused by mutations in the EPM2A or EPM2B genes encoding the laforin carbohydrate-binding phosphatase and the malin E3 ubiquitin ligase. LD is the most common neurodegenerative epilepsy of ... Cited by 1 - Related articles - Cached - All 5 versions
[PDF] from biochemj.orgC Romá-Mateo, M del Carmen Solaz-Fuster… - The Biochemical …, 2011 - biochemj.org 1 Instituto de Biomedicina de Valencia, CSIC and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Jaime Roig 11, 46010-Valencia, Spain. 2 Centro de Investigaciones Biológicas, CSIC and Centro de Investigación Biomédica en Red de Enfermedades ... Cited by 1 - Related articles - View as HTML - All 3 versions
S Vernia, M Heredia, O Criado… - Human Molecular …, 2011 - Oxford Univ Press Laforin is a dual specificity protein phosphatase involved in Lafora disease (LD), a fatal form of progressive myoclonus epilepsy characterized by neurodegeneration and the presence of intracellular polyglucosan inclusions (Lafora bodies) in different tissues. In this work, we ... Related articles - All 4 versions
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