Presenilin structure, function and role in Alzheimer disease.

摘要: Numerous missense mutations in the presenilins are associated with autosomal dominant form of familial Alzheimer disease. Presenilin genes encode polytopic transmembrane proteins, which processed by proteolytic cleavage and high-molecular-weight complexes under physiological conditions. The have been suggested to be functionally involved developmental morphogenesis, unfolded protein responses processing selected proteins including s-amyloid precursor protein. Although underlying mechanism presenilin lead development disease remains elusive, one consistent mutational effect is an overproduction long-tailed amyloid s-peptides. Furthermore, interact s-catenin complexes, effects also observed catenin signal transduction pathway.