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Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease
Presenilin mutations are the main cause of familial Alzheimer disease. From a genetic point of view, these mutations seem to result in a gain of toxic function; however, biochemically, they result in a partial loss of function in the γ-secretase complex, which affects several downstream signalling p...
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2007
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1796779/ https://ncbi.nlm.nih.gov/pubmed/17268505 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/sj.embor.7400897 |
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