Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease.

@article{Rogaev1997AnalysisOT,
  title={Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease.},
  author={Evgeny I. Rogaev and Robin Sherrington and Chengyan Wu and Georges L{\'e}vesque and Yinghua Liang and Ekaterina A. Rogaeva and Michiko Ikeda and Katerine Holman and C. A. Lin and Walter J. Lukiw and Pieter J de Jong and Paul E. Fraser and Johanna M Rommens and Peter St George-Hyslop},
  journal={Genomics},
  year={1997},
  volume={40 3},
  pages={415-24}
}
Mutations in the human presenilin genes (PSEN1 and PSEN2) are associated with early onset familial Alzheimer disease. The presenilin genes encode integral membrane proteins with similar structures, which suggests that they may have closely related, but as yet unknown functions. Analysis of the 5' upstream sequence and the structure of the PSEN1 gene reveals that the 5' sequence contains multiple putative transcription regulatory elements including clusters of STAT elements involved in… CONTINUE READING