Presenilin structure, function and role in Alzheimer disease

Paul E. Fraser, Dun Sheng Yang, Gang Yu, Lyne Lévesque, Masaki Nishimura, Shigeki Arawaka, Louise C. Serpell, Ekaterina Rogaeva, Peter St George-Hyslop

Research output: Contribution to journalArticle

76 Citations (Scopus)

Abstract

Numerous missense mutations in the presenilins are associated with the autosomal dominant form of familial Alzheimer disease. 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, unfolded protein responses and processing of selected proteins including the β-amyloid precursor protein. Although the underlying mechanism by which presenilin mutations lead to development of Alzheimer disease 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 the physiological and mutational effects are also observed in the catenin signal transduction pathway. Copyright (C) 2000 Elsevier Science B.V.

Original languageEnglish (US)
Pages (from-to)1-15
Number of pages15
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Volume1502
Issue number1
DOIs
StatePublished - Jul 26 2000

Fingerprint

Presenilins
Alzheimer Disease
Catenins
Unfolded Protein Response
Amyloid beta-Protein Precursor
Missense Mutation
Morphogenesis
Amyloid
Signal Transduction
Proteins
Molecular Weight
Peptides
Mutation
Genes

Keywords

  • β-Amyloid precursor protein
  • β-Catenin
  • Alzheimer disease
  • Amyloid-β peptide
  • Armadillo
  • Notch 1
  • Presenilin
  • Secretase
  • Tau

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Biophysics

Cite this

Fraser, P. E., Yang, D. S., Yu, G., Lévesque, L., Nishimura, M., Arawaka, S., ... St George-Hyslop, P. (2000). Presenilin structure, function and role in Alzheimer disease. Biochimica et Biophysica Acta - Molecular Basis of Disease, 1502(1), 1-15. https://doi.org/10.1016/S0925-4439(00)00028-4

Presenilin structure, function and role in Alzheimer disease. / Fraser, Paul E.; Yang, Dun Sheng; Yu, Gang; Lévesque, Lyne; Nishimura, Masaki; Arawaka, Shigeki; Serpell, Louise C.; Rogaeva, Ekaterina; St George-Hyslop, Peter.

In: Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1502, No. 1, 26.07.2000, p. 1-15.

Research output: Contribution to journalArticle

Fraser, PE, Yang, DS, Yu, G, Lévesque, L, Nishimura, M, Arawaka, S, Serpell, LC, Rogaeva, E & St George-Hyslop, P 2000, 'Presenilin structure, function and role in Alzheimer disease', Biochimica et Biophysica Acta - Molecular Basis of Disease, vol. 1502, no. 1, pp. 1-15. https://doi.org/10.1016/S0925-4439(00)00028-4
Fraser, Paul E. ; Yang, Dun Sheng ; Yu, Gang ; Lévesque, Lyne ; Nishimura, Masaki ; Arawaka, Shigeki ; Serpell, Louise C. ; Rogaeva, Ekaterina ; St George-Hyslop, Peter. / Presenilin structure, function and role in Alzheimer disease. In: Biochimica et Biophysica Acta - Molecular Basis of Disease. 2000 ; Vol. 1502, No. 1. pp. 1-15.
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