Version: 1.0.0 | Published: 5 Oct 2026 | Updated: 0 days ago
Documentation
Description:
**Experiment type**: Expression profiling by high throughput sequencing
Genome binding/occupancy profiling by high throughput sequencing
**Summary**: The study of transcriptomic and epigenomic variations in neurodegenerative diseases, particularly tauopathies like Pick’s disease (PiD) and Alzheimer’s disease (AD), offers insights into their underlying regulatory mechanisms. Here, we identified critical regulatory changes driving disease progression, revealing potential therapeutic targets. Our comparative analyses uncovered disease-enriched non-coding regions and genome-wide transcription factor (TF) binding differences, linking them to target genes. Notably, we identified a distal human-gained enhancer (HGE) associated with E3 ubiquitin ligase (UBE3A), highlighting disease-specific regulatory alterations. Additionally, fine-mapping of AD risk genes uncovered loci enriched in microglial enhancers and accessible in other cell-types. Shared and distinct TF binding patterns were observed in neurons and glial cells across PiD and AD. We validated our findings using CRISPR to excise a predicted enhancer region in UBE3A and developed an interactive database, scROAD, to visualize predicted single-cell TF occupancy and regulatory networks.
**Overall design**: Nuclei from human PFC tissue were isolated from 7 patients with Pick"s disease, and 9 of their age-matched controls. snATAC-seq and snRNA-seq were performed to study the regulatory mechanisms and gene expression alternation.
Coverage
Spatial:
US
Follow Up:
Unknown
Provenance
Temporal
Accrual Periodicity:
Static
Start Date:
01 January 2026
Time Lag:
Not applicable
Accessibility
Access
Access Rights:
See dataset for details. Access data at:
Usage
Resource Creators:
Vivek Swarup
Observations
Statistical Population
Population Description
Population Size
Measured Property
Observation Date
Persons
16
Count
01 January 2026