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- W2014252116 abstract "Mutations in the gene encoding the microtubule associated protein tau (MAPT) cause frontotemporal dementia (FTD). Alternative splicing of MAPT generates six distinct tau isoforms in the adult human CNS, where its major function is to stabilise the microtubule cytoskeleton. MAPT mutations cause either aberrant splicing or amino acid changes which reduce the ability of tau to bind microtubules. The complex pattern of tau splicing is not recapitulated in current cell models making it difficult to elucidate the mechanisms by which tau splice mutations lead to neuronal cell death. We aim to generate induced pluripotent stem (iPS) cells from fibroblasts taken from patients harbouring MAPT mutations. We will differentiate embryonic stem (ES) and iPS cells into neurons and evaluate them as a model of human tau splicing in order to investigate the effect of tau coding and splice mutations on neuronal viability. Patients carrying mutations in MAPT were identified in cognitive disorders clinics at the National Hospital for Neurology and Neurosurgery and University Hospital Wales. Primary fibroblast lines were generated from skin-punch biopsy samples using standard techniques. To generate iPS cells, fibroblasts were infected with OCT4, SOX2, KLF4 and MYC retroviruses. iPS clones were picked on the basis of morphology for expansion and further characterisation. Patient-specific iPS cells have been generated and are currently undergoing validation. Successful reprogramming was judged by morphology and expression of pluripotency -associated markers. Ongoing work aims to apply this technique to a larger cohort of patient samples. We are also differentiating ES and iPS cells into neurons to examine tau isoform expression. ES and iPS cell-derived neurons provide a novel cell model for the study of tau splicing and the affects of coding and splice-site tau mutations on neuronal viability." @default.
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- W2014252116 date "2010-07-01" @default.
- W2014252116 modified "2023-09-27" @default.
- W2014252116 title "P1-111: Progress towards a neuronal cell model of the tauopathies" @default.
- W2014252116 doi "https://doi.org/10.1016/j.jalz.2010.05.660" @default.
- W2014252116 hasPublicationYear "2010" @default.
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