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A novel EPM2A mutation yields a slow progression form of Lafora disease.
Garcia-Gimeno MA, Rodilla-Ramirez PN, Viana R, Salas-Puig X, Brewer MK, Gentry MS, Sanz P. Garcia-Gimeno MA, et al. Among authors: sanz p. Epilepsy Res. 2018 Sep;145:169-177. doi: 10.1016/j.eplepsyres.2018.07.003. Epub 2018 Jul 21. Epilepsy Res. 2018. PMID: 30041081 Free PMC article.
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, Criado-García O, Heath KE, García-Fojeda B, Medraño-Fernández I, Gomez-Garre P, Sanz P, Serratosa JM, Rodríguez de Córdoba S. Fernández-Sánchez ME, et al. Among authors: sanz p. Hum Mol Genet. 2003 Dec 1;12(23):3161-71. doi: 10.1093/hmg/ddg340. Epub 2003 Oct 7. Hum Mol Genet. 2003. PMID: 14532330
435 results