Characterizing the causal pathway for genetic variants associated with neurological phenotypes using human brain-derived proteome data

NK Kibinge, CL Relton, TR Gaunt… - The American Journal of …, 2020 - cell.com
Leveraging high-dimensional molecular datasets can help us develop mechanistic insight
into associations between genetic variants and complex traits. In this study, we integrated …

Single-cell transcriptomic analysis of Alzheimer's disease

H Mathys, J Davila-Velderrain, Z Peng, F Gao… - Nature, 2019 - nature.com
Alzheimer's disease is a pervasive neurodegenerative disorder, the molecular complexity of
which remains poorly understood. Here, we analysed 80,660 single-nucleus transcriptomes …

Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease

MR Johnson, K Shkura, SR Langley… - Nature …, 2016 - nature.com
Genetic determinants of cognition are poorly characterized, and their relationship to genes
that confer risk for neurodevelopmental disease is unclear. Here we performed a systems …

Understanding Alzheimer disease at the interface between genetics and transcriptomics

J Verheijen, K Sleegers - Trends in Genetics, 2018 - cell.com
Over 25 genes are known to affect the risk of developing Alzheimer disease (AD), the most
common neurodegenerative dementia. However, mechanistic insights and improved …

[HTML][HTML] A multi-network approach identifies protein-specific co-expression in asymptomatic and symptomatic Alzheimer's disease

NT Seyfried, EB Dammer, V Swarup, D Nandakumar… - Cell systems, 2017 - cell.com
Here, we report proteomic analyses of 129 human cortical tissues to define changes
associated with the asymptomatic and symptomatic stages of Alzheimer's disease (AD) …

Genome-wide association studies in Alzheimer disease

SC Waring, RN Rosenberg - Archives of neurology, 2008 - jamanetwork.com
The genetics of Alzheimer disease (AD) to date support an age-dependent dichotomous
model whereby earlier age of disease onset (< 60 years) is explained by 3 fully penetrant …

Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes

J Schwartzentruber, S Cooper, JZ Liu… - Nature …, 2021 - nature.com
Genome-wide association studies have discovered numerous genomic loci associated with
Alzheimer's disease (AD); yet the causal genes and variants are incompletely identified. We …

Evolutionary conservation and divergence of the human brain transcriptome

WG Pembroke, CL Hartl, DH Geschwind - Genome biology, 2021 - Springer
Background Mouse models have allowed for the direct interrogation of genetic effects on
molecular, physiological, and behavioral brain phenotypes. However, it is unknown to what …

Interactome mapping suggests new mechanistic details underlying Alzheimer's disease

M Soler-López, A Zanzoni, R Lluís, U Stelzl… - Genome …, 2011 - genome.cshlp.org
Recent advances toward the characterization of Alzheimer's disease (AD) have permitted
the identification of a dozen of genetic risk factors, although many more remain …

Genome-Wide Association of Familial Late-Onset Alzheimer's Disease Replicates BIN1 and CLU and Nominates CUGBP2 in Interaction with APOE

EM Wijsman, ND Pankratz, Y Choi, JH Rothstein… - PLoS …, 2011 - journals.plos.org
Late-onset Alzheimer's disease (LOAD) is the most common form of dementia in the elderly.
The National Institute of Aging-Late Onset Alzheimer's Disease Family Study and the …