Associated Papers
An empirical pipeline for personalized diagnosis of Lafora disease mutations.
Brewer MK et al.
Iscience, 2021
Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.
Raththagala M et al.
Molecular Cell, 2015
Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.
Singh S et al.
Human Mutation, 2009
Advances in lafora progressive myoclonus epilepsy.
Delgado-Escueta AV
Current Neurology and Neuroscience Reports, 2007
Glycogen metabolism in tissues from a mouse model of Lafora disease.
Wang W et al.
Archives of Biochemistry and Biophysics, 2007
Molecular characterization of laforin, a dual-specificity protein phosphatase implicated in Lafora disease.
Girard JM et al.
Biochimie, 2006
Glycogen and related polysaccharides inhibit the laforin dual-specificity protein phosphatase.
Wang W et al.
Biochemical and Biophysical Research Communications, 2004
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.
Ianzano L et al.
Human Mutation, 2004
Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.
Fernández-Sánchez ME et al.
Human Molecular Genetics, 2003
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.
Ganesh S et al.
Human Molecular Genetics, 2002
A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen.
Wang J et al.
The Journal of Biological Chemistry, 2002
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.
Gómez-Garre P et al.
European Journal of Human Genetics : Ejhg, 2000
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