Stroke genetics informs drug discovery and risk prediction across ancestries

A Mishra, R Malik, T Hachiya, T Jürgenson, S Namba… - Nature, 2022 - nature.com
Previous genome-wide association studies (GWASs) of stroke—the second leading cause of
death worldwide—were conducted predominantly in populations of European ancestry …

Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders

J Bryois, D Calini, W Macnair, L Foo, E Urich… - Nature …, 2022 - nature.com
To date, most expression quantitative trait loci (eQTL) studies, which investigate how genetic
variants contribute to gene expression, have been performed in heterogeneous brain …

[PDF][PDF] Single-cell atlas reveals correlates of high cognitive function, dementia, and resilience to Alzheimer's disease pathology

H Mathys, Z Peng, CA Boix, MB Victor, N Leary, S Babu… - Cell, 2023 - cell.com
Alzheimer's disease (AD) is the most common cause of dementia worldwide, but the
molecular and cellular mechanisms underlying cognitive impairment remain poorly …

[PDF][PDF] Disease-associated oligodendrocyte responses across neurodegenerative diseases

S Pandey, K Shen, SH Lee, YAA Shen, Y Wang… - Cell reports, 2022 - cell.com
Oligodendrocyte dysfunction has been implicated in the pathogenesis of neurodegenerative
diseases, so understanding oligodendrocyte activation states would shed light on disease …

Integrative in situ mapping of single-cell transcriptional states and tissue histopathology in a mouse model of Alzheimer's disease

H Zeng, J Huang, H Zhou, WJ Meilandt… - Nature …, 2023 - nature.com
Complex diseases are characterized by spatiotemporal cellular and molecular changes that
may be difficult to comprehensively capture. However, understanding the spatiotemporal …

Cell subtype-specific effects of genetic variation in the Alzheimer's disease brain

M Fujita, Z Gao, L Zeng, C McCabe, CC White, B Ng… - Nature Genetics, 2024 - nature.com
The relationship between genetic variation and gene expression in brain cell types and
subtypes remains understudied. Here, we generated single-nucleus RNA sequencing data …

Molecular and cellular mechanisms of selective vulnerability in neurodegenerative diseases

M Kampmann - Nature Reviews Neuroscience, 2024 - nature.com
The selective vulnerability of specific neuronal subtypes is a hallmark of neurodegenerative
diseases. In this Review, I summarize our current understanding of the brain regions and …

The concept of resilience to Alzheimer's Disease: current definitions and cellular and molecular mechanisms

LE de Vries, I Huitinga, HW Kessels, DF Swaab… - Molecular …, 2024 - Springer
Some individuals are able to maintain their cognitive abilities despite the presence of
significant Alzheimer's Disease (AD) neuropathological changes. This discrepancy between …

INPP5D regulates inflammasome activation in human microglia

V Chou, RV Pearse, AJ Aylward, N Ashour… - Nature …, 2023 - nature.com
Microglia and neuroinflammation play an important role in the development and progression
of Alzheimer's disease (AD). Inositol polyphosphate-5-phosphatase D (INPP5D/SHIP1) is a …

FMNL2 regulates gliovascular interactions and is associated with vascular risk factors and cerebrovascular pathology in Alzheimer's disease

AJ Lee, NS Raghavan, P Bhattarai, T Siddiqui… - Acta …, 2022 - Springer
Alzheimer's disease (AD) has been associated with cardiovascular and cerebrovascular risk
factors (CVRFs) during middle age and later and is frequently accompanied by …