Article
iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology.
Molecular neurobiology - 1 Apr 2018
Matamoros-Angles Andreu, Gayosso Lucía Mayela, 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 Adolfo, Raya Ángel, Castilla Joaquín, Sánchez-Pernaute Rosario, Del Río José Antonio
Abstract excerpt
Gerstmann-Sträussler-Scheinker (GSS) syndrome is a fatal autosomal dominant neurodegenerative prionopathy clinically characterized by ataxia, spastic paraparesis, extrapyramidal signs and dementia. In some GSS familiar cases carrying point mutations in the PRNP gene, patients also showed comorbid tauopathy leading to mixed pathologies. In this study we developed an induced pluripotent stem (iPS) cell model...
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