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Li, V. EPM2A Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5377 (accessed on 21 September 2026).
Li V. EPM2A Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5377. Accessed September 21, 2026.
Li, Vivi. "EPM2A Gene" Encyclopedia, https://encyclopedia.pub/entry/5377 (accessed September 21, 2026).
Li, V. (2020, December 24). EPM2A Gene. In Encyclopedia. https://encyclopedia.pub/entry/5377
Li, Vivi. "EPM2A Gene." Encyclopedia. Web. 24 December, 2020.
EPM2A Gene
Edit

EPM2A, laforin glucan phosphatase

genes

References

  1. Chan EM, Ackerley CA, Lohi H, Ianzano L, Cortez MA, Shannon P, Scherer SW,Minassian BA. Laforin preferentially binds the neurotoxic starch-likepolyglucosans, which form in its absence in progressive myoclonus epilepsy. HumMol Genet. 2004 Jun 1;13(11):1117-29.
  2. Ganesh S, Agarwala KL, Ueda K, Akagi T, Shoda K, Usui T, Hashikawa T, Osada H,Delgado-Escueta AV, Yamakawa K. Laforin, defective in the progressive myoclonusepilepsy of Lafora type, is a dual-specificity phosphatase associated withpolyribosomes. Hum Mol Genet. 2000 Sep 22;9(15):2251-61.
  3. Garyali P, Siwach P, Singh PK, Puri R, Mittal S, Sengupta S, Parihar R, GaneshS. The malin-laforin complex suppresses the cellular toxicity of misfoldedproteins by promoting their degradation through the ubiquitin-proteasome system. Hum Mol Genet. 2009 Feb 15;18(4):688-700. doi: 10.1093/hmg/ddn398.
  4. Girard JM, Lê KH, Lederer F. Molecular characterization of laforin, adual-specificity protein phosphatase implicated in Lafora disease. Biochimie.2006 Dec;88(12):1961-71.
  5. Liu R, Wang L, Chen C, Liu Y, Zhou P, Wang Y, Wang X, Turnbull J, MinassianBA, Liu Y, Zheng P. Laforin negatively regulates cell cycle progression throughglycogen synthase kinase 3beta-dependent mechanisms. Mol Cell Biol. 2008Dec;28(23):7236-44. doi: 10.1128/MCB.01334-08.
  6. Liu Y, Wang Y, Wu C, Liu Y, Zheng P. Deletions and missense mutations of EPM2Aexacerbate unfolded protein response and apoptosis of neuronal cells induced byendoplasm reticulum stress. Hum Mol Genet. 2009 Jul 15;18(14):2622-31. doi:10.1093/hmg/ddp196.
  7. Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead OC3rd, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW.Mutations in a gene encoding a novel protein tyrosine phosphatase causeprogressive myoclonus epilepsy. Nat Genet. 1998 Oct;20(2):171-4.
  8. Serratosa JM, Gómez-Garre P, Gallardo ME, Anta B, de Bernabé DB, Lindhout D,Augustijn PB, Tassinari CA, Malafosse RM, Topcu M, Grid D, Dravet C, Berkovic SF,de Córdoba SR. A novel protein tyrosine phosphatase gene is mutated inprogressive myoclonus epilepsy of the Lafora type (EPM2). Hum Mol Genet. 1999Feb;8(2):345-52.
  9. Singh S, Ganesh S. Lafora progressive myoclonus epilepsy: a meta-analysis ofreported mutations in the first decade following the discovery of the EPM2A andNHLRC1 genes. Hum Mutat. 2009 May;30(5):715-23. doi: 10.1002/humu.20954. Review.
  10. Solaz-Fuster MC, Gimeno-Alcañiz JV, Ros S, Fernandez-Sanchez ME, Garcia-FojedaB, Criado Garcia O, Vilchez D, Dominguez J, Garcia-Rocha M, Sanchez-Piris M,Aguado C, Knecht E, Serratosa J, Guinovart JJ, Sanz P, Rodriguez de Córdoba S.Regulation of glycogen synthesis by the laforin-malin complex is modulated by theAMP-activated protein kinase pathway. Hum Mol Genet. 2008 Mar 1;17(5):667-78.
  11. Tagliabracci VS, Turnbull J, Wang W, Girard JM, Zhao X, Skurat AV,Delgado-Escueta AV, Minassian BA, Depaoli-Roach AA, Roach PJ. Laforin is aglycogen phosphatase, deficiency of which leads to elevated phosphorylation ofglycogen in vivo. Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19262-6.
  12. Vilchez D, Ros S, Cifuentes D, Pujadas L, Vallès J, García-Fojeda B,Criado-García O, Fernández-Sánchez E, Medraño-Fernández I, Domínguez J,García-Rocha M, Soriano E, Rodríguez de Córdoba S, Guinovart JJ. Mechanismsuppressing glycogen synthesis in neurons and its demise in progressive myoclonusepilepsy. Nat Neurosci. 2007 Nov;10(11):1407-13.
  13. Worby CA, Gentry MS, Dixon JE. Laforin, a dual specificity phosphatase thatdephosphorylates complex carbohydrates. J Biol Chem. 2006 Oct 13;281(41):30412-8.
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