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Organizing biological data
CAGE-seq of human post-mortem brain tissue of the frontal lobe from patients with FTD and healthy controls
smRNA-sequencing of human post-mortem brain tissue of the frontal lobe from patients with Frontotemporal Dementia and healthy controls
RNA-seq of human post-mortem brain tissue of the frontal lobe from patients with FTD and healthy controls
ALS Compute
Single-nucleus RNA-Sequencing and ATAC-Sequencing of frontal cortex from C9orf72-linked amyotrophic lateral sclerosis and frontotemporal lobar degeneration
RNA methylation influences TDP43 binding and disease pathogenesis in models of amyotrophic lateral sclerosis and frontotemporal dementia
A TDP-43 acetylation-mimic mutation that disrupts RNA-binding drives FTLD-like neurodegeneration in a mouse model of sporadic TDP-43 proteinopathy
Uncovering RNA signatures of C9orf72-linked ALS and related disorders
Identify dysregulated genes in a zebrafish model for C9 RNA toxicity
HNRNPK alleviates RNA toxicity by counteracting DNA damage in C9orf72 ALS
Human
CRISPR/Cas9-Mediated Excision of ALS/FTD-Causing Hexanucleotide Repeat Expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro
Human Tau Mutations in Cerebral Organoids Induce a Progressive Dyshomeostasis of Cholesterol
High-throughput characterization of hematopoietic stem cell engraftment after intravenous and intracerebroventricular dosing
Differential gene expression in sporadic and genetic forms of Alzheimer’s disease and frontotemporal dementia in brain tissue and lymphoblastoid cell lines.
Multiplexed high throughput screening identifies broadly-active rescuers of proteotoxicity
TDP-43 knockdown in neuronal cell lines reveals a cryptic exon in UNC13A
ALS/FTD GWAS risk variant rs12973192 promotes severe cryptic splicing of the UNC13A transcript upon TDP-43 depletion
Cell environment shapes TDP-43 function: implications in neuronal and muscle disease
Glutamatergic dysfunction precedes neuron loss in cerebral organoids with MAPT mutations [bulk RNA-Seq]
Glutamatergic dysfunction precedes neuron loss in cerebral organoids with MAPT mutations [scRNA-Seq]
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