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When loss is gain: reduced presenilin proteolytic function leads to increased Aβ42/Aβ40. Talking Point on the role of presenilin mutations in Alzheimer disease

More than 100 missense mutations in presenilin 1 and 2 are associated with early-onset dominant Alzheimer disease. These proteins span the membrane several times and are ostensibly the catalytic component of the γ-secretase complex, which is responsible for producing the amyloid β-peptide (Aβ) that...

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Detalhes bibliográficos
Autor principal: Wolfe, Michael S
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2007
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1796780/
https://ncbi.nlm.nih.gov/pubmed/17268504
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/sj.embor.7400896
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