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2018-04-01

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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/156037

iPS cell cultures from a Gerstmann-Straussler-Scheinker patient with the Y218N PRNP mutation recapitulate tau pathology

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https://doi.org/10.1007/s12035-017-0506-6

Resum

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.

Matèries

Genètica, Prions, Proteïnes, Cèl·lules mare, Mutació (Biologia), Patologia

Matèries (anglès)

Genetics, Prions, Proteins, Stem cells, Mutation (Biology), Pathology

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Articles publicats en revistes (Patologia i Terapèutica Experimental)
<b>Publicacions de projectes de recerca finançats per la UE</b>
Articles publicats en revistes (Biologia Cel·lular, Fisiologia i Immunologia)

Citació

MATAMOROS I ANGLÈS, Andreu, MAYELA GAYOSSO, Lucia, RICHAUD-PATIN, Yvonne, DOMENICO, Angelique di, VERGARA PAÑOS, Cristina, HERVERA ABAD, Arnau, SOUSA, Amaia, FERNÁNDEZ BORGES, Natalia, CONSIGLIO, Antonella, GAVÍN MARÍN, Rosalina, LÓPEZ DE MATURANA, Rakel, FERRER, Isidro (ferrer abizanda), LÓPEZ DE MUNAIN, Adolfo, RAYA CHAMORRO, Ángel, CASTILLA, Joaquín, SANCHEZ-PERNAUTE, Rosario, RÍO FERNÁNDEZ, José antonio del. iPS cell cultures from a Gerstmann-Straussler-Scheinker patient with the Y218N PRNP mutation recapitulate tau pathology. _Molecular Neurobiology_. 2018. Vol. 55, núm. 4, pàgs. 3033-3048. [consulta: 5 de febrer de 2026]. ISSN: 0893-7648. [Disponible a: https://hdl.handle.net/2445/156037]

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