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

por Santiago Vernia, Teresa Rubio, Miguel Heredia, Santiago Rodríguez de Córdoba, Pascual Sanz
Publicado 2009

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

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

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

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

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

por 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
Publicado 2021

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

por 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
Publicado 2011

An empirical pipeline for personalized diagnosis of Lafora disease mutations

por 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
Publicado 2021