Doug Whitney, 76, carries a rare PSEN2 genetic mutation that causes early-onset Alzheimer's but shows no cognitive decline ...
Alzheimer's disease is a debilitating condition that slowly robs people of their memory and cognitive abilities, affecting millions of people worldwide. Familial Alzheimer's disease (FAD), a rare ...
Hippocampal neurons with staining for endosomes (turquoise and purple) and lysosomes (yellow). When the PSEN2 gene is absent or carries a familial Alzheimer-related mutation (middle), the lysosomes ...
Evidence from epidemiological studies suggesting a potential protective effect of anti-inflammatory drugs in Alzheimer's disease (AD) have not been supported by therapeutic studies using nonsteroidal ...
We have analyzed the 5′-upstream promoter region of the presenilin 2 gene (PSEN2) for regulatory elements and examined Alzheimer disease (AD) patients and non-demented individuals for polymorphisms in ...
Both presenilin-1 or the less-studied presenilin-2 can act as the catalytic subunit of γ-secretase, the enzyme responsible for churning out Aβ peptides. A new study, published November 29 in Nature ...
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 ...
This mutation involves the deletion of an adenine and guanine in intron 11 which abolishes the canonical splice acceptor site of exon 12 (Perrone et al., 2018). This leads to exon 12 skipping and a ...
A Washington man appeared to be destined to develop Alzheimer’s disease — but against all genetic odds, he has eluded the common dementia for decades. Researchers at the Washington University School ...