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Article

APP Osaka Mutation in Familial Alzheimer's Disease-Its Discovery, Phenotypes, and Mechanism of Recessive Inheritance.

International journal of molecular sciences - 19 Feb 2020

Tomiyama Takami, Shimada Hiroyuki

Abstract excerpt

Alzheimer's disease is believed to begin with synaptic dysfunction caused by soluble Aβ oligomers. When this oligomer hypothesis was proposed in 2002, there was no direct evidence that Aβ oligomers actually disrupt synaptic function to cause cognitive impairment in humans. In patient brains, both soluble and insoluble Aβ species always coexist, and therefore it is difficult to determine which pathologies are...

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PMID: 32093100
DOI: 10.3390/ijms21041413
PMCID: PMC7073033

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