2026
article
OpenAlex
Charles H. Adler, Chelva Janarthanam, Geidy E. Serrano, Vellareddy Anantharam et autres
BACKGROUND AND OBJECTIVES: Using RT-QuIC seeding assays determine the presence of pathogenic alpha-synuclein (aSyn) aggregates in the submandibular gland (SMG), skin, and CSF from autopsy-confirmed cases of incidental Lewy body disease (ILBD), Parkinson disease (PD), and controls. METHODS: Submandibular gland, skin, and …
us
(code pays fourni par la source)
Accès ouvert
2026
preprint
OpenAlex
Rachel Ee, Meelad Amouzgar, Jumana Afaghani, Kausalia Vijayaragavan et autres
ABSTRACT Variation in APOE, notably the ε4 allele, profoundly shapes risk and severity of late-onset Alzheimer’s disease (AD), yet how it remodels human microglial states remains unresolved. We combine spatially resolved proteomic profiling with single-nuclear multiomic analyses to define microglial organization across …
us
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Sean Simmons, Xian Adiconis, Nathan Haywood, Jacob J. Parker et autres
Single-cell RNA-seq (scRNA-seq) is emerging as a powerful tool for understanding gene function across diverse cells. Recently, this has included the use of allele-specific expression (ASE) analysis to better understand how variation in the human genome affects RNA expression at the single-cell …
us
(code pays fourni par la source)
Accès ouvert
2026
preprint
OpenAlex
Christina D. Orru, Thomas G. Beach, Charles H. Adler, Holly A. Shill et autres
Braak and others have proposed that Lewy body pathology (LBP) in Parkinson's disease (PD) may arise not only in the brain but alternatively from an initial site in the gastrointestinal (GI) tract with subsequent passage to the central nervous system CNS through …
us, it
(code pays fourni par la source)
Accès ouvert
2026
preprint
OpenAlex
Kwanho Kim, Zechuan Lin, Sean Simmons, Jacob J. Parker et autres
Structural variants (SVs) are a major source of genetic diversity, yet how they impact cell types in complex brain diseases remains largely unexplored, partially due to limitations of short-read sequencing. Here, we addressed this fundamental question in Parkinson's disease (PD). generating long-read …
us, gb
(code pays fourni par la source)
Accès ouvert
2026
preprint
OpenAlex
Shreya Menon, Adam W. Turner, Serena H. Chang, Alia W. Johnson et autres
Most genetic variants contributing to complex diseases reside in the noncoding genome. While common variants uncovered by genome-wide association studies often fail to explain much of the observed heritability of these diseases, rare variants often have higher effect sizes and cumulatively explain …
us, it, gb, de
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Nicole Tamvaka, William J. Scotton, Meredith T. Lilley, Maryam Shoai et autres
Abstract Genetic studies have significantly advanced our understanding of tauopathies, yet the genetic aetiology of Pick’s disease, a rare 3-Repeat tauopathy, remains unclear. The MAPT p.A152T variant has been identified as a risk factor for Alzheimer’s disease and progressive supranuclear palsy, but …
us, gb, be, hk
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Audrey A. Omidsalar, David R. Tyrpak, J. Andrew MacKay, Kelvin Yen et autres
Somatic differences in mitochondrial DNA (mtDNA) have been observed with aging and between brain regions for mutations, structural variation, and abundance, which are represented by single nucleotide variants (SNVs), large deletions, and copy number, respectively. We used bioinformatic methods to interrogate mtDNA …
us
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Wen-Hua Sun, Claudia Schulte, Thomas Gasser, Manuela M. X. Tan et autres
Genome-wide association study of Parkinson's disease (PD) identified common variants associated with lysosomal mechanism, including TMEM175, SCARB2, and CTSB. We investigated the association between common and rare variants across populations using cohorts from the Global Parkinson's Genetics Program (GP2) (33,733 cases and …
de, no, cl, us, gb, Nigéria, br, ar, au, at, ca, cn, hk, co, cr, Égypte, Éthiopie, fr, Ghana, gr, hn, in, ir, it, jp, kg, lu, my
(code pays fourni par la source)
Accès ouvert
2025
preprint
OpenAlex
Sanika M. Joshi, Abbey M. McKee, Sharadyn Ille, Kristina Buss et autres
Deficiencies in one-carbon (1C) metabolism are linked to the onset of vascular dementia (VaD). Our previous work using mouse models has demonstrated that reduced dietary intake of folic acid or genetic deficiencies in 1C metabolism result in worse outcomes using a model …
us
(code pays fourni par la source)
Accès ouvert
2025
preprint
OpenAlex
Nathan Haywood, Geidy E. Serrano, Madison P. Cline, Zhixiang Liao et autres
This protocol describes a workflow to prepare and Run Visium Spatial Transcriptomics samples from human Midbrain.
us
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Grace C. George, Sarah A. Keller, Erin L. Abner, Sara Dubowsky Adar et autres
INTRODUCTION: The Neighborhoods Study (TNS) is a novel investigation of adverse social exposome and brain health leveraging 22 Alzheimer's Disease Research Centers (ADRCs). TNS aims to understand if the adverse social exposures increase Alzheimer's disease and related dementias (ADRD) risk. METHODS: TNS …
us
(code pays fourni par la source)