The phosphatase activity of laforin is dispensable to rescue Epm2a.-/- mice from Lafora disease

Lafora progressive myoclonus epilepsy (Lafora disease) is a fatal autosomal recessive neurodegenerative disorder characterized by the presence of glycogen-like intracellular inclusions called Lafora bodies. The vast majority of patients carry mutations in either the EPM2A or EPM2B genes, encoding la...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2014-03, Vol.137 (Pt 3), p.806-818
Hauptverfasser:	GAYARRE, Javier, DURAN-TRIO, Lara, CRIADO GARCIA, Olga, AGUADO, Carmen, JUANA-LOPEZ, Lucia, CRESPO, Inmaculada, KNECHT, Erwin, BOVOLENTA, Paola, DE CORDOBA, Santiago Rodríguez
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Autophagy - genetics Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Disease Models, Animal Dual-Specificity Phosphatases - deficiency Dual-Specificity Phosphatases - genetics Dual-Specificity Phosphatases - metabolism Female Lafora Disease - enzymology Lafora Disease - genetics Lafora Disease - metabolism Medical sciences Mice Mice, Inbred C57BL Mice, Knockout Mice, Transgenic Mutation Neurology Phosphorylation - genetics
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