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Lafora Disease: A Ubiquitination-Related Pathology.
García-Gimeno MA, Knecht E, Sanz P. García-Gimeno MA, et al. Among authors: knecht e. Cells. 2018 Jul 26;7(8):87. doi: 10.3390/cells7080087. Cells. 2018. PMID: 30050012 Free PMC article. Review.
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: knecht e. 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. Autophagy. 2010 Oct;6(7):991-3. doi: 10.4161/auto6.7.13308. Epub 2010 Oct 11. Autophagy. 2010. PMID: 20818165 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: knecht e. 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.
Lafora disease fibroblasts exemplify the molecular interdependence between thioredoxin 1 and the proteasome in mammalian cells.
García-Giménez JL, Seco-Cervera M, Aguado C, Romá-Mateo C, Dasí F, Priego S, Markovic J, Knecht E, Sanz P, Pallardó FV. García-Giménez JL, et al. Among authors: knecht e. Free Radic Biol Med. 2013 Dec;65:347-359. doi: 10.1016/j.freeradbiomed.2013.07.001. Epub 2013 Jul 9. Free Radic Biol Med. 2013. PMID: 23850970 Free article.
157 results