Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Identification of mutations in five Pakistani families with Epilepsy.
Ahsan N et al.
Neurogenetics, 2025
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.
Haryanyan G et al.
Journal of Human Genetics, 2021
An empirical pipeline for personalized diagnosis of Lafora disease mutations.
Brewer MK et al.
Iscience, 2021
SOD1 in amyotrophic lateral sclerosis development - in silico analysis and molecular dynamics of A4F and A4V variants.
Da Silva ANR et al.
Journal of Cellular Biochemistry, 2019
Oligomerization and carbohydrate binding of glucan phosphatases.
Sharma S et al.
Analytical Biochemistry, 2018
Lafora disease - from pathogenesis to treatment strategies.
Nitschke F et al.
Nature Reviews. Neurology, 2018
A novel EPM2A mutation yields a slow progression form of Lafora disease.
Garcia-Gimeno MA et al.
Epilepsy Research, 2018
Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family.
Aslam Z et al.
Seizure, 2017
Biophysical characterization of laforin-carbohydrate interaction.
Dias DM et al.
The Biochemical Journal, 2016
Assessing the Biological Activity of the Glucan Phosphatase Laforin.
Romá-Mateo C et al.
Methods in Molecular Biology (clifton, N.j.), 2016
Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.
Raththagala M et al.
Molecular Cell, 2015
Conformational transition pathway in the inhibitor binding process of human monoacylglycerol lipase.
Chen H et al.
The Protein Journal, 2014
The carbohydrate-binding domain of overexpressed STBD1 is important for its stability and protein-protein interactions.
Zhu Y et al.
Bioscience Reports, 2014
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
Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease.
Tiberia E et al.
The Journal of Biological Chemistry, 2012
Starch binding domain-containing protein 1/genethonin 1 is a novel participant in glycogen metabolism.
Jiang S et al.
The Journal of Biological Chemistry, 2010
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
Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.
Tagliabracci VS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007
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
Relationship between glycogen accumulation and the laforin dual specificity phosphatase.
Wang W et al.
Biochemical and Biophysical Research Communications, 2006
Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.
Ganesh S et al.
Journal of Human Genetics, 2006
Glycogen and related polysaccharides inhibit the laforin dual-specificity protein phosphatase.
Wang W et al.
Biochemical and Biophysical Research Communications, 2004
The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.
Ganesh S et al.
Biochemical and Biophysical Research Communications, 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
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.
Minassian BA et al.
Neurology, 2000