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The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic.
Gentry MS, Afawi Z, Armstrong DD, Delgado-Escueta A, Goldberg YP, Grossman TR, Guinovart JJ, Harris F, Hurley TD, Michelucci R, Minassian BA, Sanz P, Worby CA, Serratosa JM. Gentry MS, et al. Among authors: sanz p. Epilepsy Behav. 2020 Feb;103(Pt A):106839. doi: 10.1016/j.yebeh.2019.106839. Epub 2020 Jan 10. Epilepsy Behav. 2020. PMID: 31932179 Free PMC article. Review.
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
Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway.
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. Solaz-Fuster MC, et al. Among authors: sanz p. Hum Mol Genet. 2008 Mar 1;17(5):667-78. doi: 10.1093/hmg/ddm339. Epub 2007 Nov 20. Hum Mol Genet. 2008. PMID: 18029386 Free article.
Laforin, the most common protein mutated in Lafora disease, regulates autophagy.
Aguado C, Sarkar S, Korolchuk VI, Criado O, Vernia S, Boya P, Sanz P, de Córdoba SR, Knecht E, Rubinsztein DC. Aguado C, et al. Among authors: sanz p. Hum Mol Genet. 2010 Jul 15;19(14):2867-76. doi: 10.1093/hmg/ddq190. Epub 2010 May 7. Hum Mol Genet. 2010. PMID: 20453062 Free PMC article.
Impaired autophagy in Lafora disease.
Knecht E, Aguado C, Sarkar S, Korolchuk VI, Criado-García O, Vernia S, Boya P, Sanz P, Rodríguez de Córdoba S, Rubinsztein DC. Knecht E, et al. Among authors: sanz p. Autophagy. 2010 Oct;6(7):991-3. doi: 10.4161/auto6.7.13308. Epub 2010 Oct 11. Autophagy. 2010. PMID: 20818165 Free PMC article.
A PTG variant contributes to a milder phenotype in Lafora disease.
Guerrero R, Vernia S, Sanz R, Abreu-Rodríguez I, Almaraz C, García-Hoyos M, Michelucci R, Tassinari CA, Riguzzi P, Nobile C, Sanz P, Serratosa JM, Gómez-Garre P. Guerrero R, et al. Among authors: sanz p, sanz r. PLoS One. 2011;6(6):e21294. doi: 10.1371/journal.pone.0021294. Epub 2011 Jun 30. PLoS One. 2011. PMID: 21738631 Free PMC article.
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