Santiago Vernia

Affiliations: 
MRC Clinical Sciences Center, Imperial College 
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"Santiago Vernia"
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Rubio T, Vernia S, Sanz P. (2013) Sumoylation of AMPKβ2 subunit enhances AMP-activated protein kinase activity. Molecular Biology of the Cell. 24: 1801-11, S1-4
Knecht E, Criado-García O, Aguado C, et al. (2012) Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease. Autophagy. 8: 701-3
Criado O, Aguado C, Gayarre J, et al. (2012) Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy. Human Molecular Genetics. 21: 1521-33
Romá-Mateo C, Moreno D, Vernia S, et al. (2011) Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional level. Bmc Evolutionary Biology. 11: 225
Guerrero R, Vernia S, Sanz R, et al. (2011) A PTG variant contributes to a milder phenotype in Lafora disease. Plos One. 6: e21294
Couarch P, Vernia S, Gourfinkel-An I, et al. (2011) Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism. Journal of Molecular Medicine (Berlin, Germany). 89: 915-25
Vernia S, Heredia M, Criado O, et al. (2011) Laforin, a dual specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy balance in mice. Human Molecular Genetics. 20: 2571-84
Knecht E, Aguado C, Sarkar S, et al. (2010) Impaired autophagy in Lafora disease. Autophagy. 6: 991-3
Aguado C, Sarkar S, Korolchuk VI, et al. (2010) Laforin, the most common protein mutated in Lafora disease, regulates autophagy. Human Molecular Genetics. 19: 2867-76
Vernia S, Rubio T, Heredia M, et al. (2009) Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin. Plos One. 4: e5907
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