Associated Papers
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
Pondrelli F et al.
Orphanet Journal of Rare Diseases, 2023
Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models.
Upadhyay M et al.
Neurobiology of Disease, 2017
Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.
Raththagala M et al.
Molecular Cell, 2015
Malin and laforin are essential components of a protein complex that protects cells from thermal stress.
Sengupta S et al.
Journal of Cell Science, 2011
Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.
Puri R et al.
The Journal of Biological Chemistry, 2009
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
The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system.
Garyali P et al.
Human Molecular Genetics, 2009
Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment.
Mittal S et al.
Human Molecular Genetics, 2007
Molecular characterization of laforin, a dual-specificity protein phosphatase implicated in Lafora disease.
Girard JM et al.
Biochimie, 2006
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
Advances in the genetics of progressive myoclonus epilepsy.
Delgado-Escueta AV et al.
American Journal of Medical Genetics, 2001
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
Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes.
Ganesh S et al.
Human Molecular Genetics, 2000
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.
Minassian BA et al.
Neurology, 2000