Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.C266S
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EPM2A

NM_005670.4:p.C266S

Associated Papers

The biochemical dynamics of the glycogen phosphatase laforin directly impact brain metabolism.

Brewer MK et al.

The Journal of Biological Chemistry, 2025

Novel mutation of EPM2A causes progressive myoclonic epilepsy: a case report.

Liang T et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Generation and characterization of a laforin nanobody inhibitor.

Simmons ZR et al.

Clinical Biochemistry, 2021

Oligomerization and carbohydrate binding of glucan phosphatases.

Sharma S et al.

Analytical Biochemistry, 2018

Lafora Disease: A Ubiquitination-Related Pathology.

García-Gimeno MA et al.

Cells, 2018

Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan.

Sullivan MA et al.

International Journal of Molecular Sciences, 2017

Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease.

Nitschke F et al.

Embo Molecular Medicine, 2017

Incorporation of phosphate into glycogen by glycogen synthase.

Contreras CJ et al.

Archives of Biochemistry and Biophysics, 2016

Assessing the Biological Activity of the Glucan Phosphatase Laforin.

Romá-Mateo C et al.

Methods in Molecular Biology (clifton, N.j.), 2016

The laforin/malin E3-ubiquitin ligase complex ubiquitinates pyruvate kinase M1/M2.

Viana R et al.

Bmc Biochemistry, 2015

Dimeric quaternary structure of human laforin.

Sankhala RS et al.

The Journal of Biological Chemistry, 2015

Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.

Raththagala M et al.

Molecular Cell, 2015

The phosphatase activity of laforin is dispensable to rescue Epm2a-/- mice from Lafora disease.

Gayarre J et al.

Brain : a Journal of Neurology, 2014

Laforin, a protein with many faces: glucan phosphatase, adapter protein, et alii.

Gentry MS et al.

The Febs Journal, 2013

Dimerization of the glucan phosphatase laforin requires the participation of cysteine 329.

Sánchez-Martín P et al.

Plos One, 2013

Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy.

Dubey D et al.

Genomics, 2012

Phosphate incorporation during glycogen synthesis and Lafora disease.

Tagliabracci VS et al.

Cell Metabolism, 2011

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

Abnormal metabolism of glycogen phosphate as a cause for Lafora disease.

Tagliabracci VS et al.

The Journal of Biological Chemistry, 2008

Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy.

Dubey D et al.

Human Molecular Genetics, 2008

Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway.

Solaz-Fuster MC et al.

Human Molecular Genetics, 2008

Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG).

Worby CA et al.

The Journal of Biological Chemistry, 2008

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

A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.

Cheng A et al.

Genes & Development, 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

Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates.

Worby CA et al.

The Journal of Biological Chemistry, 2006

Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.

Ganesh S et al.

Journal of Human Genetics, 2006

Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.

Gentry MS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2005

Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy.

Chan EM et al.

Human Molecular Genetics, 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

The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain.

Ganesh S et al.

Human Molecular Genetics, 2003

A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen.

Wang J et al.

The Journal of Biological Chemistry, 2002

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