Associated Papers
An empirical pipeline for personalized diagnosis of Lafora disease mutations.
Brewer MK et al.
Iscience, 2021
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
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
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
The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.
Ganesh S et al.
Biochemical and Biophysical Research Communications, 2004
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
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.
Minassian BA et al.
Neurology, 2000
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