Associated Papers
An empirical pipeline for personalized diagnosis of Lafora disease mutations.
Brewer MK et al.
Iscience, 2021
Lafora disease - from pathogenesis to treatment strategies.
Nitschke F et al.
Nature Reviews. Neurology, 2018
Molecular dynamics simulations and principal component analysis on human laforin mutation W32G and W32G/K87A.
Srikumar PS et al.
The Protein Journal, 2014
Exploring the structural insights on human laforin mutation K87A in Lafora disease--a molecular dynamics study.
Srikumar PS et al.
Applied Biochemistry and Biotechnology, 2013
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
Lesca G et al.
Epilepsia, 2010
Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress.
Liu Y et al.
Human Molecular Genetics, 2009
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
Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.
Ganesh S et al.
Journal of Human Genetics, 2006
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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