Increased Endoplasmic Reticulum Stress and Decreased Proteasomal Function in Lafora Disease Models Lacking the Phosphatase Laforin

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

Laforin, the most common protein mutated in Lafora disease, regulates autophagy

por Aguado, Carmen, Sarkar, Sovan, Korolchuk, Viktor I., Criado, Olga, Vernia, Santiago, Boya, Patricia, Sanz, Pascual, de Córdoba, Santiago Rodríguez, Knecht, Erwin, Rubinsztein, David C.
Publicado 2010

Case report: lupus nephritis with autoantibodies to complement alternative pathway proteins and C3 gene mutation

por Nozal, Pilar, Garrido, Sofía, Martínez-Ara, Jorge, Picazo, María Luz, Yébenes, Laura, Álvarez-Doforno, Rita, Pinto, Sheila, de Córdoba, Santiago Rodríguez, López-Trascasa, Margarita
Publicado 2015

Sensitive and specific assays for C3 nephritic factors clarify mechanisms underlying complement dysregulation

por Paixão-Cavalcante, Danielle, López-Trascasa, Margarita, Skattum, Lillemor, Giclas, Patricia C, Goodship, Timothy H, de Córdoba, Santiago Rodríguez, Truedsson, Lennart, Morgan, B Paul, Harris, Claire L
Publicado 2012

Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains

por Pickering, Matthew C., de Jorge, Elena Goicoechea, Martinez-Barricarte, Rubén, Recalde, Sergio, Garcia-Layana, Alfredo, Rose, Kirsten L., Moss, Jill, Walport, Mark J., Cook, H. Terence, de Córdoba, Santiago Rodriguez, Botto, Marina
Publicado 2007

Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis

por Gale, Daniel P, de Jorge, Elena Goicoechea, Cook, H Terence, Martinez-Barricarte, Rubén, Hadjisavvas, Andreas, McLean, Adam G, Pusey, Charles D, Pierides, Alkis, Kyriacou, Kyriacos, Athanasiou, Yiannis, Voskarides, Konstantinos, Deltas, Constantinos, Palmer, Andrew, Frémeaux-Bacchi, Véronique, de Cordoba, Santiago Rodriguez, Maxwell, Patrick H, Pickering, Matthew C
Publicado 2010