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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
EPM2A
gene.
Chan EM, Ackerley CA, Lohi H, Ianzano L, Cortez MA, Shannon P, Scherer SW, Minassian BA. Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy. Hum Mol Genet. 2004 Jun 1;13(11):1117-29. Epub 2004 Apr 21.
PubMed citation
Entrez
Gene
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 myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes. Hum Mol Genet. 2000 Sep 22;9(15):2251-61.
PubMed citation
Garyali P, Siwach P, Singh PK, Puri R, Mittal S, Sengupta S, Parihar R, Ganesh S. The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system. Hum Mol Genet. 2009 Feb 15;18(4):688-700. doi: 10.1093/hmg/ddn398. Epub 2008 Nov 25.
PubMed citation
Girard JM, Lê KH, Lederer F. Molecular characterization of laforin, a dual-specificity protein phosphatase implicated in Lafora disease. Biochimie. 2006 Dec;88(12):1961-71. Epub 2006 Sep 14.
PubMed citation
Liu R, Wang L, Chen C, Liu Y, Zhou P, Wang Y, Wang X, Turnbull J, Minassian BA, Liu Y, Zheng P. Laforin negatively regulates cell cycle progression through glycogen synthase kinase 3beta-dependent mechanisms. Mol Cell Biol. 2008 Dec;28(23):7236-44. doi: 10.1128/MCB.01334-08. Epub 2008 Sep 29.
PubMed citation
Liu Y, Wang Y, Wu C, Liu Y, Zheng P. Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress. Hum Mol Genet. 2009 Jul 15;18(14):2622-31. doi: 10.1093/hmg/ddp196. Epub 2009 Apr 29.
PubMed citation
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 OC 3rd, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet. 1998 Oct;20(2):171-4.
PubMed citation
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 in progressive myoclonus epilepsy of the Lafora type (EPM2). Hum Mol Genet. 1999 Feb;8(2):345-52.
PubMed citation
Singh S, Ganesh S. Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. Hum Mutat. 2009 May;30(5):715-23. doi: 10.1002/humu.20954. Review.
PubMed citation
Solaz-Fuster MC, Gimeno-Alcañiz JV, Ros S, Fernandez-Sanchez ME, Garcia-Fojeda B, 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 the AMP-activated protein kinase pathway. Hum Mol Genet. 2008 Mar 1;17(5):667-78. Epub 2007 Nov 20.
PubMed citation
Tagliabracci VS, Turnbull J, Wang W, Girard JM, Zhao X, Skurat AV, Delgado-Escueta AV, Minassian BA, Depaoli-Roach AA, Roach PJ. Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo. Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19262-6. Epub 2007 Nov 26.
PubMed citation
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. Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy. Nat Neurosci. 2007 Nov;10(11):1407-13. Epub 2007 Oct 21.
PubMed citation
Worby CA, Gentry MS, Dixon JE. Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates. J Biol Chem. 2006 Oct 13;281(41):30412-8. Epub 2006 Aug 10.
PubMed citation
Reviewed: July 2009
Published: May 13, 2013
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