Commonalities between copper neurotoxicity and Alzheimer's disease

R Patel, M Aschner - Toxics, 2021 - mdpi.com
Alzheimer's disease, a highly prevalent form of dementia, targets neuron function beginning
from the hippocampal region and expanding outwards. Alzheimer's disease is caused by …

An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations

U Dube, JL Del-Aguila, Z Li, JP Budde, S Jiang… - Nature …, 2019 - nature.com
Parietal cortex RNA-sequencing (RNA-seq) data were generated from individuals with and
without Alzheimer disease (AD; n control= 13; n AD= 83) from the Knight Alzheimer Disease …

Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases

N de Klein, EA Tsai, M Vochteloo, D Baird, Y Huang… - Nature …, 2023 - nature.com
Identification of therapeutic targets from genome-wide association studies (GWAS) requires
insights into downstream functional consequences. We harmonized 8,613 RNA-sequencing …

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

F Perrone, R Cacace, J van der Zee… - Genome medicine, 2021 - Springer
Abstract Knowledge of the molecular etiology of neurodegenerative brain diseases (NBD)
has substantially increased over the past three decades. Early genetic studies of NBD …

The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk

Y Deming, F Filipello, F Cignarella, C Cantoni… - Science translational …, 2019 - science.org
Soluble triggering receptor expressed on myeloid cells 2 (sTREM2) in cerebrospinal fluid
(CSF) has been associated with Alzheimer's disease (AD). TREM2 plays a critical role in …

A single-nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain

JL Del-Aguila, Z Li, U Dube… - Alzheimer's research & …, 2019 - Springer
Background Alzheimer's disease (AD) is the most common form of dementia. This
neurodegenerative disorder is associated with neuronal death and gliosis heavily impacting …

Comprehensive evaluation of deconvolution methods for human brain gene expression

GJ Sutton, D Poppe, RK Simmons, K Walsh… - Nature …, 2022 - nature.com
Transcriptome deconvolution aims to estimate the cellular composition of an RNA sample
from its gene expression data, which in turn can be used to correct for composition …

Analysis of whole genome-transcriptomic organization in brain to identify genes associated with alcoholism

M Kapoor, JC Wang, SP Farris, Y Liu… - Translational …, 2019 - nature.com
Alcohol exposure triggers changes in gene expression and biological pathways in human
brain. We explored alterations in gene expression in the Pre-Frontal Cortex (PFC) of 65 …

TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers

JL Del-Aguila, BA Benitez, Z Li, U Dube… - Molecular …, 2019 - Springer
Background Low frequency coding variants in TREM2 are associated with Alzheimer
disease (AD) risk and cerebrospinal fluid (CSF) TREM2 protein levels are different between …

The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion

Z Li, FHG Farias, U Dube, JL Del-Aguila… - Acta …, 2020 - Springer
Apart from amyloid β deposition and tau neurofibrillary tangles, Alzheimer's disease (AD) is
a neurodegenerative disorder characterized by neuronal loss and astrocytosis in the …