The slow loss of memory, thinking, and independence that defines Alzheimer’s disease continues to affect millions worldwide.

The impact of PSEN2 mutations has remained less understood-; until now. A research team led by Prof. Wim Annaert at VIB-KU Leuven has shed light on how mutated PSEN2 accelerates disease ...

In an exceptionally rare case, a patient with a high genetic risk of developing Alzheimer's appears to have avoided his ...

Familial Alzheimer’s disease (FAD), a rare inherited form of the disease, is linked to mutations in several genes, including APP, PSEN1, and PSEN2. The impact of PSEN2 mutations has remained ...

Researchers at Washington University School of Medicine in St. Louis have conducted a longitudinal study on an individual carrying the presenilin 2 (PSEN2) p.Asn141Ile mutation, a genetic variant ...

PSEN2 mutations are associated with an accumulation of the protein amyloid-beta in the brain, which is currently considered a hallmark of Alzheimer’s disease, as well as an increased risk for ...

The biological effect of this mutation is unknown, but the related G359Lfs*74 (Intron 11 delA) mutation appears to reduce PSEN2 stability (Perrone et al., 2018). Mutant protein levels were more than ...

Alzheimer’s Disease (AD) is the result of complex interactions between risk factors that cause pleiotropic changes in molecular networks linking a host of biological processes. A variety of genetic ...

The 5′-region of PSEN2. We analyzed the 5′-sequences of cDNAs or ESTs of PSEN2 gene from commercial and publicly available cDNA libraries and databases and found that, in addition to the 5 ...

The PSEN1 and PSEN2 genes encode similar proteins that act as core parts of a complex enzyme system called γ-secretase. This system cuts the APP protein into smaller fragments called amyloid-beta ...

The mutation appears to reduce PSEN2 stability. Mutant transcript levels were reduced more than fourfold and mutant protein levels were approximately 50 percent reduced compared with those of ...