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Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment
Tau is a microtubule-associated protein that plays an important role in Alzheimer’s disease and related tauopathies. Approximately one-half of all cases of Frontotemporal dementia with parkinsonism-17 (FTDP-17) are caused by mutations in the MAPT gene. The N279K mutation is one of the three mutation...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6052045/ https://www.ncbi.nlm.nih.gov/pubmed/30050413 http://dx.doi.org/10.3389/fncel.2018.00202 |
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author | Ritter, Maxi L. Avila, Jesús García-Escudero, Vega Hernández, Félix Pérez, Mar |
author_facet | Ritter, Maxi L. Avila, Jesús García-Escudero, Vega Hernández, Félix Pérez, Mar |
author_sort | Ritter, Maxi L. |
collection | PubMed |
description | Tau is a microtubule-associated protein that plays an important role in Alzheimer’s disease and related tauopathies. Approximately one-half of all cases of Frontotemporal dementia with parkinsonism-17 (FTDP-17) are caused by mutations in the MAPT gene. The N279K mutation is one of the three mutations more prevalent in FTDP-17 cases. Several studies have demonstrated that N279K Tau mutation alters alternative splicing inducing the presence of exon 10. Tau is mainly found in the cytosol of neuronal cells although it has also been localized within the nucleus. Here we demonstrate by biochemical and immunohistochemistry studies in COS-7 cells, that the proportion of mutant N279K Tau increases compared with wild-type at the cell nucleus although cell viability is not affected. These data will provide us with a better outline of the nuclear role of tau protein offering new clues related with this tauopathie. |
format | Online Article Text |
id | pubmed-6052045 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-60520452018-07-26 Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment Ritter, Maxi L. Avila, Jesús García-Escudero, Vega Hernández, Félix Pérez, Mar Front Cell Neurosci Neuroscience Tau is a microtubule-associated protein that plays an important role in Alzheimer’s disease and related tauopathies. Approximately one-half of all cases of Frontotemporal dementia with parkinsonism-17 (FTDP-17) are caused by mutations in the MAPT gene. The N279K mutation is one of the three mutations more prevalent in FTDP-17 cases. Several studies have demonstrated that N279K Tau mutation alters alternative splicing inducing the presence of exon 10. Tau is mainly found in the cytosol of neuronal cells although it has also been localized within the nucleus. Here we demonstrate by biochemical and immunohistochemistry studies in COS-7 cells, that the proportion of mutant N279K Tau increases compared with wild-type at the cell nucleus although cell viability is not affected. These data will provide us with a better outline of the nuclear role of tau protein offering new clues related with this tauopathie. Frontiers Media S.A. 2018-07-12 /pmc/articles/PMC6052045/ /pubmed/30050413 http://dx.doi.org/10.3389/fncel.2018.00202 Text en Copyright © 2018 Ritter, Avila, García-Escudero, Hernández and Pérez. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neuroscience Ritter, Maxi L. Avila, Jesús García-Escudero, Vega Hernández, Félix Pérez, Mar Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment |
title | Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment |
title_full | Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment |
title_fullStr | Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment |
title_full_unstemmed | Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment |
title_short | Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment |
title_sort | frontotemporal dementia-associated n279k tau mutation localizes at the nuclear compartment |
topic | Neuroscience |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6052045/ https://www.ncbi.nlm.nih.gov/pubmed/30050413 http://dx.doi.org/10.3389/fncel.2018.00202 |
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