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The familial Alzheimer's disease APPV717I mutation alters APP processing and Tau expression in iPSC-derived neurons

12 Feb 2014

Abstract excerpt

Alzheimer's disease (AD) is a complex neurodegenerative disorder characterized by extracellular plaques containing amyloid β (Aβ)-protein and intracellular tangles containing hyperphosphorylated Tau protein. Here, we describe the generation of inducible pluripotent stem cell lines from patients harboring the London familial AD (fAD) amyloid precursor protein (APP) mutation (V717I). We examine AD-relevant...

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PMID: 24524897
DOI: 10.1093/hmg/ddu064

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