作者: D. Levitan , T. G. Doyle , D. Brousseau , M. K. Lee , G. Thinakaran
关键词: Caenorhabditis elegans 、 Alzheimer's disease 、 Proteolysis 、 Presenilin 、 Cell type 、 Helminth protein 、 Mutant 、 Molecular biology 、 Membrane protein 、 Biology
摘要: We provide evidence that normal human presenilins can substitute for Caenorhabditis elegans SEL-12 protein in functional assays vivo . In addition, six familial Alzheimer disease-linked mutant were tested and found to have reduced ability rescue the sel-12 phenotype, suggesting they lower than normal presenilin activity. A 1 deletion variant fails be proteolytically processed a SEL-12 lacks C terminus display considerable activity this assay, suggesting neither proteolysis nor is absolutely required function. also show that expressed most neural nonneural cell types all developmental stages. The of mutant as yet unknown gain-of-function properties may a contributing factor development disease.