Genetics of Alzheimer disease
LM Bekris, CE Yu, TD Bird… - Journal of geriatric …, 2010 - journals.sagepub.com
Alzheimer disease (AD) is the most common causes of neurodegenerative disorder in the
elderly individuals. Clinically, patients initially present with short-term memory loss …
elderly individuals. Clinically, patients initially present with short-term memory loss …
Aβ oligomers–a decade of discovery
Converging lines of evidence suggest that progressive accumulation of the amyloid β‐
protein (Aβ) plays a central role in the genesis of Alzheimer's disease, but it was long …
protein (Aβ) plays a central role in the genesis of Alzheimer's disease, but it was long …
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease
Genome-wide association studies (GWAS) have identified several risk variants for late-onset
Alzheimer's disease (LOAD),. These common variants have replicable but small effects on …
Alzheimer's disease (LOAD),. These common variants have replicable but small effects on …
Presenilins and γ-secretase: structure, function, and role in Alzheimer disease
B De Strooper, T Iwatsubo… - Cold Spring …, 2012 - perspectivesinmedicine.cshlp.org
Presenilins were first discovered as sites of missense mutations responsible for early-onset
Alzheimer disease (AD). The encoded multipass membrane proteins were subsequently …
Alzheimer disease (AD). The encoded multipass membrane proteins were subsequently …
Protein aggregation in the brain: the molecular basis for Alzheimer's and Parkinson's diseases
Developing effective treatments for neurodegenerative diseases is one of the greatest
medical challenges of the 21st century. Although many of these clinical entities have been …
medical challenges of the 21st century. Although many of these clinical entities have been …
Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration
CA Saura, SY Choi, V Beglopoulos, S Malkani… - Neuron, 2004 - cell.com
Mutations in presenilins are the major cause of familial Alzheimer's disease, but the
pathogenic mechanism by which presenilin mutations cause memory loss and …
pathogenic mechanism by which presenilin mutations cause memory loss and …
The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism
J Shen, RJ Kelleher III - Proceedings of the National …, 2007 - National Acad Sciences
Dominantly inherited mutations in the genes encoding presenilins (PS) and the amyloid
precursor protein (APP) are the major causes of familial Alzheimer's disease (AD). The …
precursor protein (APP) are the major causes of familial Alzheimer's disease (AD). The …
Potent amyloidogenicity and pathogenicity of Aβ43
T Saito, T Suemoto, N Brouwers, K Sleegers… - Nature …, 2011 - nature.com
The amyloid-β peptide Aβ42 is known to be a primary amyloidogenic and pathogenic agent
in Alzheimer's disease. However, the role of Aβ43, which is found just as frequently in the …
in Alzheimer's disease. However, the role of Aβ43, which is found just as frequently in the …
γ-Secretase: proteasome of the membrane?
R Kopan, MXG Ilagan - Nature reviews Molecular cell biology, 2004 - nature.com
Abstract γ-Secretase—a protease that cleaves within the membrane—was first recognized
for its role in the production of amyloidogenic Aβ peptides, but was subsequently found to …
for its role in the production of amyloidogenic Aβ peptides, but was subsequently found to …
Presenilin clinical mutations can affect γ‐secretase activity by different mechanisms
M Bentahir, O Nyabi, J Verhamme… - Journal of …, 2006 - Wiley Online Library
Mutations in human presenilin (PS) genes cause aggressive forms of familial Alzheimer's
disease. Presenilins are polytopic proteins that harbour the catalytic site of the γ‐secretase …
disease. Presenilins are polytopic proteins that harbour the catalytic site of the γ‐secretase …