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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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Autor principal: De Strooper, Bart
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2007
Matèries:
Accés en línia: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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