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Familial Frontotemporal Dementia-Associated Presenilin-1 c.548G>T Mutation Causes Decreased mRNA Expression and Reduced Presenilin Function in Knock-In Mice

Mutations in the presenilin-1 (PSEN1) gene are associated with familial Alzheimer's disease and frontotemporal dementia (FTD). Interestingly, neuropathological analysis of a Belgian FTD family carrying a PSEN1 c.548G>T mutation confirmed neurodegeneration in the absence of amyloid plaques. T...

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Bibliographic Details
Main Authors: Watanabe, Hirotaka, Xia, Dan, Kanekiyo, Takahisa, Kelleher, Raymond J., Shen, Jie
Format: Artigo
Language:Inglês
Published: Society for Neuroscience 2012
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3340902/
https://ncbi.nlm.nih.gov/pubmed/22496554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.0317-12.2012
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