Physiologically generated presenilin 1 lacking exon 8 fails to rescue brain PS1−/− phenotype and forms complexes with wildtype PS1 and nicastrin

The presenilin 1 (PSEN1) L271V mutation causes early-onset familial Alzheimer’s disease by disrupting the alternative splicing of the PSEN1 gene, producing some transcripts harboring the L271V point mutation and other transcripts lacking exon 8 (PS1(∆exon8)). We previously reported that PS1 L271V in...

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Bibliografski detalji
Izdano u:Sci Rep
Glavni autori: Brautigam, Hannah, Moreno, Cesar L., Steele, John W., Bogush, Alexey, Dickstein, Dara L., Kwok, John B.J., Schofield, Peter R., Thinakaran, Gopal, Mathews, Paul M., Hof, Patrick R., Gandy, Sam, Ehrlich, Michelle E.
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2015
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4660297/
https://ncbi.nlm.nih.gov/pubmed/26608390
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep17042
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