Alzheimer's disease: an updated overview of its genetics

J Andrade-Guerrero, A Santiago-Balmaseda… - International journal of …, 2023 - mdpi.com
Alzheimer's disease (AD) is the most common neurodegenerative disease in the world. It is
classified as familial and sporadic. The dominant familial or autosomal presentation …

The neuroimmune axis of Alzheimer's disease

M Jorfi, A Maaser-Hecker, RE Tanzi - Genome Medicine, 2023 - Springer
Alzheimer's disease (AD) is a genetically complex and heterogeneous disorder with
multifaceted neuropathological features, including β-amyloid plaques, neurofibrillary …

The amyloid-β pathway in Alzheimer's disease

H Hampel, J Hardy, K Blennow, C Chen, G Perry… - Molecular …, 2021 - nature.com
Breakthroughs in molecular medicine have positioned the amyloid-β (Aβ) pathway at the
center of Alzheimer's disease (AD) pathophysiology. While the detailed molecular …

Protein transmission in neurodegenerative disease

C Peng, JQ Trojanowski, VMY Lee - Nature Reviews Neurology, 2020 - nature.com
Most neurodegenerative diseases are characterized by the intracellular or extracellular
aggregation of misfolded proteins such as amyloid-β and tau in Alzheimer disease, α …

Blood-brain barrier: from physiology to disease and back

MD Sweeney, Z Zhao, A Montagne… - Physiological …, 2019 - journals.physiology.org
The blood-brain barrier (BBB) prevents neurotoxic plasma components, blood cells, and
pathogens from entering the brain. At the same time, the BBB regulates transport of …

The multiplex model of the genetics of Alzheimer's disease

R Sims, M Hill, J Williams - Nature neuroscience, 2020 - nature.com
Genes play a strong role in Alzheimer's disease (AD), with late-onset AD showing heritability
of 58–79% and early-onset AD showing over 90%. Genetic association provides a robust …

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

BW Kunkle, B Grenier-Boley, R Sims, JC Bis… - Nature …, 2019 - nature.com
Risk for late-onset Alzheimer's disease (LOAD), the most prevalent dementia, is partially
driven by genetics. To identify LOAD risk loci, we performed a large genome-wide …

TREM2—a key player in microglial biology and Alzheimer disease

TK Ulland, M Colonna - Nature reviews neurology, 2018 - nature.com
Alzheimer disease (AD) is a debilitating dementia believed to result from the deposition of
extracellular amyloid-β (Aβ)-containing plaques followed by the formation of neurofibrillary …

Step by step: towards a better understanding of the genetic architecture of Alzheimer's disease

JC Lambert, A Ramirez, B Grenier-Boley… - Molecular …, 2023 - nature.com
Alzheimer's disease (AD) is considered to have a large genetic component. Our knowledge
of this component has progressed over the last 10 years, thanks notably to the advent of …

X-linked ubiquitin-specific peptidase 11 increases tauopathy vulnerability in women

Y Yan, X Wang, D Chaput, MK Shin, Y Koh, L Gan… - Cell, 2022 - cell.com
Although women experience significantly higher tau burden and increased risk for
Alzheimer's disease (AD) than men, the underlying mechanism for this vulnerability has not …