Familial Alzheimer’s Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds
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- 作者：Sarah Veugelen1 ; 2 ; Takashi Saito3 ; Takaomi C. Saido3 ; Lucí ; a Chá ; vez-Gutié ; rrez1 ; 2 ; lucia.chavezgutierrez@cme.vib-kuleuven.be" class="auth_mail" title="E-mail the corresponding author ; Bart De Strooper1 ; 2 ; 4 ; bart.destrooper@cme.vib-kuleuven.be" class="auth_mail" title="E-mail the corresponding author
- 刊名：Neuron
- 出版年：2016
- 出版时间：20 April 2016
- 年：2016
- 卷：90
- 期：2
- 页码：410-416
- 全文大小：865 K
文摘
- 10">
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10">PSEN1-L435F and -C410Y mutants are partially active and support Aβ generation from APP
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15">PSEN-R278I, -L435F, and -C410Y pathogenic mutants generate significant amounts of Aβ43
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FAD-linked PSEN mutations consistently lead to “γ-secretase dysfunction”
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PSEN diseased allele triggers neurodegeneration by providing amyloidogenic Aβ seeds