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A Novel MAPT Mutation, G55R, in a Frontotemporal Dementia Patient Leads to Altered Tau Function

Over two dozen mutations in the gene encoding the microtubule associated protein tau cause a variety of neurodegenerative dementias known as tauopathies, including frontotemporal dementia (FTD), PSP, CBD and Pick's disease. The vast majority of these mutations map to the C-terminal region of ta...

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Detalles Bibliográficos
Autores principales: Iyer, Abhinaya, LaPointe, Nichole E., Zielke, Krzysztof, Berdynski, Mariusz, Guzman, Elmer, Barczak, Anna, Chodakowska-Żebrowska, Małgorzata, Barcikowska, Maria, Feinstein, Stuart, Żekanowski, Cezary
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3785453/
https://www.ncbi.nlm.nih.gov/pubmed/24086739
http://dx.doi.org/10.1371/journal.pone.0076409