Biology of presenilins as causative molecules for Alzheimer disease

Masaki Nishimura, Gang Yu, Peter H. St George-Hyslop

Research output: Contribution to journalReview articlepeer-review

31 Scopus citations


Many missense mutations in the presenilins are associated with autosomal dominant forms of familial Alzheimer disease (AD). Presenilin genes encode polytopic transmembrane proteins, which are processed by proteolytic cleavage and form high-molecular-weight complexes under physiological conditions. The presenilins have been suggested to be functionally involved in developmental morphogenesis, apoptosis signal pathways, and processing of selected proteins including β-amyloid precursor protein. Although the underlying mechanism in which presenilin mutations lead to development of AD remains elusive, one consistent mutational effect is an overproduction of long-tailed amyloid β-peptides. Furthermore, presenilins interact with β-catenin to form presenilin complexes and presenilin mutations effect β-catenin signalling pathways.

Original languageEnglish (US)
Pages (from-to)219-225
Number of pages7
JournalClinical Genetics
Issue number4
StatePublished - 1999


  • Alzheimer disease
  • Notch 1
  • Presenilin
  • β-amyloid precursor protein
  • β-catenin

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Biology of presenilins as causative molecules for Alzheimer disease'. Together they form a unique fingerprint.

Cite this