Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model.

Journal article

We have generated a physiologically relevant bacterial artificial chromosome (BAC)-based genomic DNA expression model to study PS1 gene expression and function. The PS1-WT-BAC construct restored γ-secretase function, whereas the mutant PS1 BACs demonstrated partial to complete loss of enzymatic activity when stably expressed in a PS double knock-out clonal cell line. We then engineered WT and mutant human PS1-BAC-Luciferase whole genomic locus reporter transgenes, which we transiently transdu...

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Authors: Ahmadi, S; Wade-Martins, R

• Publication status: Published
• Journal: Neurobiology of aging
• Volume: 35
• Issue: 2
• Pages: 443.e5-443.e16
• Publication date: 2014-02-01
• DOI: 10.1016/j.neurobiolaging.2013.07.026
• EISSN: 1558-1497
• ISSN: 0197-4580
• Language: English
• Keywords: Amyloid Precursor Protein Secretases; Chromosomes, Artificial, Bacterial; DNA, Bacterial; Genetic Loci; Animals; Vero Cells; Alzheimer Disease; Gene Expression; Mice; Models, Genetic; Cell Line; Clone Cells; Transgenes; Humans; Luciferases, Bacterial; Presenilin-1; Cercopithecus aethiops; Genome, Bacterial; Genes, Reporter; Mutation