Now showing items 1-5 of 5

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      Fast and Efficient Neural Conversion of Human Hematopoietic Cells 

      Castaño, Julio; Menéndez, Pablo; Bruzos Cidón, Cristina ORCID; Straccia, Marco; Sousa, Amaia; Zabaleta, Lorea; Vázquez, Nerea; Zubiarrain, Amaia; Sonntag, Kai-Christian; Ugedo Urruela, Luisa; Carvajal Vergara, Xonia; Canals, Josep Maria; Torrecilla Sesma, María ORCID; Sánchez-Pernaute, Rosario; Giorgetti, Alessandra (Cell Press, 2014-12-09)
      Neurons obtained directly from human somatic cells hold great promise for disease modeling and drug screening. Available protocols rely on overexpression of transcription factors using integrative vectors and are often ...
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      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 ...
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      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 ...
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      Small fiber neuropathy and phosphorylated alpha-synuclein in the skin of E46K- SNCA mutation carriers 

      Carmona Abellán, Mar; Gabilondo Cuellar, Iñigo; Murueta-Goyena Larrañaga, Ane; Khurana, Vikhram; Tijero Merino, Beatriz; Luquín, María Rosario; Acera, Marian; Del Pino Sáez, Rocío; Gardeazabal García, Jesús; Martínez-Valbuena, Iván; Sánchez-Pernaute, Rosario; Gómez Esteban, Juan Carlos (Elsevier, 2019-06-05)
      Background and objective: In 2004 we described the E46K mutation in alpha-synuclein gene (E46K-SNCA), a rare point mutation causing an aggressive Lewy body disease with early prominent non-motor features and small fiber ...
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      Sustained increase of PKA activity in the post-commissural putamen of dyskinetic monkeys 

      Azkona, Garikoitz ORCID; 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 ...