Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin.

par Santiago Vernia, Teresa Rubio, Miguel Heredia, Santiago Rodríguez de Córdoba, Pascual Sanz
Publié 2009

Dimerization of the glucan phosphatase laforin requires the participation of cysteine 329.

par Pablo Sánchez-Martín, Madushi Raththagala, Travis M Bridges, Satrio Husodo, Matthew S Gentry, Pascual Sanz, Carlos Romá-Mateo
Publié 2013

Laforin, a dual specificity phosphatase involved in Lafora disease, is present mainly as monomeric form with full phosphatase activity.

par Vikas V Dukhande, Devin M Rogers, Carlos Romá-Mateo, Jordi Donderis, Alberto Marina, Adam O Taylor, Pascual Sanz, Matthew S Gentry
Publié 2011

Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuite

par Fernando M. Jabato, José Córdoba-Caballero, Elena Rojano, Carlos Romá-Mateo, Pascual Sanz, Belén Pérez, Diana Gallego, Pedro Seoane, Juan A. G. Ranea, James R. Perkins
Publié 2021

A PTG variant contributes to a milder phenotype in Lafora disease.

par Rosa Guerrero, Santiago Vernia, Raúl Sanz, Irene Abreu-Rodríguez, Carmen Almaraz, María García-Hoyos, Roberto Michelucci, Carlo Alberto Tassinari, Patrizia Riguzzi, Carlo Nobile, Pascual Sanz, José M Serratosa, Pilar Gómez-Garre
Publié 2011

An empirical pipeline for personalized diagnosis of Lafora disease mutations

par M. Kathryn Brewer, Maria Machio-Castello, Rosa Viana, Jeremiah L. Wayne, Andrea Kuchtová, Zoe R. Simmons, Sarah Sternbach, Sheng Li, Maria Adelaida García-Gimeno, Jose M. Serratosa, Pascual Sanz, Craig W. Vander Kooi, Matthew S. Gentry
Publié 2021