2026-04-17T03:13:18Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1560372025-11-19T19:01:00Zcom_2072_1057col_2072_478777col_2072_478917col_2072_478929

00925njm 22002777a 4500 dc Matamoros i Anglès, Andreu author Mayela Gayosso, Lucia author Richaud-Patin, Yvonne author Domenico, Angelique Di author Vergara Paños, Cristina author Hervera Abad, Arnau author Sousa, Amaia author Fernández Borges, Natalia author Consiglio, Antonella author Gavín Marín, Rosalina author López de Maturana, Rakel author Ferrer, Isidro (Ferrer Abizanda) author López de Munain, Adolfo author Raya Chamorro, Ángel author Castilla, Joaquín author Sanchez-Pernaute, Rosario author Río Fernández, José Antonio del author 2020-04-20T10:30:34Z 2020-04-20T10:30:34Z 2018-04-01 2020-04-20T10:30:34Z 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 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 derived from fibroblasts of a GSS patient harboring the Y218N PRNP mutation, as well as an age-matched healthy control. This particular PRNP mutation is unique with very few described cases. One of the cases presented neurofibrillary degeneration with relevant Tau hyperphosphorylation. Y218N iPS-derived cultures showed relevant astrogliosis, increased phospho-Tau, altered microtubule-associated transport and cell death. However, they failed to generate proteinase K-resistant prion. In this study we set out to test, for the first time, whether iPS cell-derived neurons could be used to investigate the appearance of disease-related phenotypes (i.e, tauopathy) identified in the GSS patient. Genètica Prions Proteïnes Cèl·lules mare Mutació (Biologia) Patologia Genetics Prions Proteins Stem cells Mutation (Biology) Pathology iPS cell cultures from a Gerstmann-Straussler-Scheinker patient with the Y218N PRNP mutation recapitulate tau pathology