Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level

ECB Johnson, EK Carter, EB Dammer, DM Duong… - Nature …, 2022 - nature.com
The biological processes that are disrupted in the Alzheimer's disease (AD) brain remain
incompletely understood. In this study, we analyzed the proteomes of more than 1,000 brain …

Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies

J Zhang, D Dutta, A Köttgen, A Tin, P Schlosser… - Nature Genetics, 2022 - nature.com
Improved understanding of genetic regulation of the proteome can facilitate identification of
the causal mechanisms for complex traits. We analyzed data on 4,657 plasma proteins from …

Mendelian randomization applied to neurology: promises and challenges

E Gagnon, I Daghlas, L Zagkos, M Sargurupremraj… - Neurology, 2024 - AAN Enterprises
The Mendelian randomization (MR) paradigm allows for causal inferences to be drawn
using genetic data. In recent years, the expansion of well-powered publicly available genetic …

Comparative Analysis of Alzheimer's Disease Cerebrospinal Fluid Biomarkers Measurement by Multiplex SOMAscan Platform and Immunoassay-Based Approach 1

J Timsina, D Gomez-Fonseca, L Wang… - Journal of …, 2022 - content.iospress.com
Background: The SOMAscan assay has an advantage over immunoassay-based methods
because it measures a large number of proteins in a cost-effective manner. However, the …

Vascular endothelial‐cadherin as a marker of endothelial injury in preclinical Alzheimer disease

R Tarawneh, RS Kasper, J Sanford… - Annals of clinical …, 2022 - Wiley Online Library
Objective Endothelial dysfunction is an early and prevalent pathology in Alzheimer disease
(AD). We here investigate the value of vascular endothelial‐cadherin (VEC) as a …

Integrating human brain proteomic data with genome-wide association study findings identifies novel brain proteins in substance use traits

S Toikumo, H Xu, J Gelernter, RL Kember… - …, 2022 - nature.com
Despite the identification of a growing number of genetic risk loci for substance use traits
(SUTs), the impact of these loci on protein abundance and the potential utility of relevant …

Large Bi-Ethnic Study of Plasma Proteome Leads to Comprehensive Mapping of cis-pQTL and Models for Proteome-wide Association Studies

J Zhang, D Dutta, A Köttgen, A Tin, P Schlosser… - bioRxiv, 2021 - biorxiv.org
Improved understanding of the genetic architecture of the proteome through studies of larger
sample size, ethnic diversity, and advanced methods can facilitate the identification of …

A trans‐omic Mendelian randomization study of parental lifespan uncovers novel aging biology and therapeutic candidates for chronic diseases

N Perrot, W Pelletier, J Bourgault, C Couture, Z Li… - Aging …, 2021 - Wiley Online Library
The study of parental lifespan has emerged as an innovative tool to advance aging biology
and our understanding of the genetic architecture of human longevity and aging‐associated …

Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease

L Ibanez, JA Bahena, C Yang, U Dube… - Acta Neuropathologica …, 2020 - Springer
Alpha-synuclein is the main protein component of Lewy bodies, the pathological hallmark of
Parkinson's disease. However, genetic modifiers of cerebrospinal fluid (CSF) alpha …

Proteome Wide Association Studies of LRRK2 variants identify novel causal and druggable for Parkinson's disease

B Phillips, D Western, L Wang, J Timsina, Y Sun… - medRxiv, 2023 - medrxiv.org
Common and rare variants in the LRRK2 locus are associated with Parkinson's disease
(PD) risk, but the downstream effects of these variants on protein levels remains unknown …