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Article

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

Brain : a journal of neurology - 1 Mar 2014

Gayarre Javier, Duran-Trío Lara, Criado Garcia Olga, Aguado Carmen, Juana-López Lucia, Crespo Inmaculada, Knecht Erwin, Bovolenta Paola, Rodríguez de Córdoba Santiago

Abstract excerpt

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 laforin, a glucan phosphatase, and malin, an E3 ubiquitin ligase, respectively. Although the precise physiological...

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PMID: 24430976
DOI: 10.1093/brain/awt353

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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