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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: serratosa jm. 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. 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.
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: serratosa jm. PLoS One. 2011;6(6):e21294. doi: 10.1371/journal.pone.0021294. Epub 2011 Jun 30. PLoS One. 2011. PMID: 21738631 Free PMC article.
Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.
Criado O, Aguado C, Gayarre J, Duran-Trio L, Garcia-Cabrero AM, Vernia S, San Millán B, Heredia M, Romá-Mateo C, Mouron S, Juana-López L, Domínguez M, Navarro C, Serratosa JM, Sanchez M, Sanz P, Bovolenta P, Knecht E, Rodriguez de Cordoba S. Criado O, et al. Among authors: serratosa jm. Hum Mol Genet. 2012 Apr 1;21(7):1521-33. doi: 10.1093/hmg/ddr590. Epub 2011 Dec 20. Hum Mol Genet. 2012. PMID: 22186026
Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease.
Knecht E, Criado-García O, Aguado C, Gayarre J, Duran-Trio L, Garcia-Cabrero AM, Vernia S, San Millán B, Heredia M, Romá-Mateo C, Mouron S, Juana-López L, Domínguez M, Navarro C, Serratosa JM, Sanchez M, Sanz P, Bovolenta P, Rodríguez de Córdoba S. Knecht E, et al. Among authors: serratosa jm. Autophagy. 2012 Apr;8(4):701-3. doi: 10.4161/auto.19522. Epub 2012 Apr 1. Autophagy. 2012. PMID: 22361617 Free article. Review.
Laforin and malin deletions in mice produce similar neurologic impairments.
García-Cabrero AM, Marinas A, Guerrero R, de Córdoba SR, Serratosa JM, Sánchez MP. García-Cabrero AM, et al. Among authors: serratosa jm. J Neuropathol Exp Neurol. 2012 May;71(5):413-21. doi: 10.1097/NEN.0b013e318253350f. J Neuropathol Exp Neurol. 2012. PMID: 22487859
Hyperexcitability and epileptic seizures in a model of frontotemporal dementia.
García-Cabrero AM, Guerrero-López R, Giráldez BG, Llorens-Martín M, Avila J, Serratosa JM, Sánchez MP. García-Cabrero AM, et al. Among authors: serratosa jm. Neurobiol Dis. 2013 Oct;58:200-8. doi: 10.1016/j.nbd.2013.06.005. Epub 2013 Jun 14. Neurobiol Dis. 2013. PMID: 23774255
140 results