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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Main Authors: Abhinaya Iyer, Nichole E Lapointe, Krzysztof Zielke, Mariusz Berdynski, Elmer Guzman, Anna Barczak, Małgorzata Chodakowska-Żebrowska, Maria Barcikowska, Stuart Feinstein, Cezary Zekanowski
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24086739/?tool=EBI