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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. 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. 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: sanchez mp. 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: sanchez mp. Neurobiol Dis. 2013 Oct;58:200-8. doi: 10.1016/j.nbd.2013.06.005. Epub 2013 Jun 14. Neurobiol Dis. 2013. PMID: 23774255
Lafora Disease Is an Inherited Metabolic Cardiomyopathy.
Villalba-Orero M, Sánchez-Elexpuru G, López-Olañeta M, Campuzano O, Bello-Arroyo E, García-Pavía P, Serratosa JM, Brugada R, Sánchez MP, Lara-Pezzi E. Villalba-Orero M, et al. Among authors: sanchez elexpuru g, sanchez mp. J Am Coll Cardiol. 2017 Jun 20;69(24):3007-3009. doi: 10.1016/j.jacc.2017.04.029. J Am Coll Cardiol. 2017. PMID: 28619201 Free PMC article. No abstract available.
147 results