Browsing by Author "López de Maturana, Rakel"
Now showing items 1-4 of 4
-
iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology
Matamoros-Angles, Andreu; Mayela Gayosso, Lucía; Richaud-Patin, Yvonne; Di Domenico, Angelique; Vergara, Cristina; Hervera, Arnau; Sousa, Amaya; Fernández-Borges, Natalia; Consiglio, Antonella; Gavín, Rosalina; López de Maturana, Rakel; Ferrer, Isidro; López de Munain Arregui, Adolfo José; Raya, Ángel; Castilla, Joaquín; Sánchez-Pernaute, Rosario; Del Río, José Antonio (Humana Press, 2018-04)Gerstmann-Straussler-Scheinker (GSS) syndrome is a fatal autosomal dominant neurodegenerative prionopathy clinically characterized by ataxia, spastic paraparesis, extrapyramidal signs and dementia. In some GSS familiar ... -
LRRK2 Expression is Deregulated in Fibroblasts and Neurons from Parkinson Patients with Mutations in PINK1
Azkona, Garikoitz ; López de Maturana, Rakel; del Rio, Patricia; Zubiarrain, Amaia; Sousa, Amaia; Vázquez, Nerea; Jiménez Blasco, Daniel; Bolaños Hernández, Juan Pedro; Morales, Blas; Auburger, Georg; Arbelo, José Matías; Sánchez Pernaute, Rosario (Springer, 2018)Mutations in PINK1 (PARK6), a serine/threonine kinase involved in mitochondrial homeostasis, are associated with early onset Parkinson's disease. Fibroblasts from Parkinson's disease patients with compound heterozygous ... -
Mutations in LRRK2 impair NF-κB pathway in iPSC-derived neurons
López de Maturana, Rakel; Lang, Valérie; Zubiarrain, Amaia; Sousa, Amaya; Vázquez, Nerea; Gorostidi, Ana; Águila, Julio; López de Munain Arregui, Adolfo José; Rodríguez, Manuel; Sánchez-Pernaute, Rosario (Biomed Central, 2016-11-18)Background: Mutations in leucine-rich repeat kinase 2 (LRRK2) contribute to both familial and idiopathic forms of Parkinson's disease (PD). Neuroinflammation is a key event in neurodegeneration and aging, and there is ... -
Sustained increase of PKA activity in the post-commissural putamen of dyskinetic monkeys
Azkona, Garikoitz ; Marcilla, Irene; López de Maturana, Rakel; Sousa, Amaya; Pérez Navarro, Esther; Luquín, María Rosario; Sánchez-Pernaute, Rosario (Springer, 2014-04-05)Levodopa-induced dyskinesias (LID) are a frequent complication of Parkinson's disease pharmacotherapy that causes significant disability and narrows the therapeutic window. Pharmacological management of LID is challenging ...