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ProteomicsReactive astrocytes in ALS display dysregulated intron retention
Reactive astrocytes are implicated in amyotrophic lateral sclerosis (ALS), although the mechanisms controlling reactive transformation are unknown. We show that decreased intron retention (IR) is common to human iPSC-derived astrocytes carrying VCP, C9orf72 and SOD1 ALS-causing mutations as well as ...
ORGANISM(S): Homo sapiens (Human) 
2021-09-09 | PXD022604 | Pride
Alternative splicing Astrocytes Transcriptome profiling Amyotrophic lateral sclerosis Intron retention Motor neuron disease Neurodegeneration Reactive astrocytes Human induced pluripotent stem cell Rna sequencing 
ProteomicsHuman VCP mutant ALS/FTD microglia display immune and lysosomal phenotypes independently of GPNMB
Microglia play crucial roles in mediating neuronal homeostasis but have been implicated in contributing to amyotrophic lateral sclerosis (ALS). However, the role of microglia in ALS remains incompletely understood. Here, we generated highly enriched cultures of VCP mutant microglia derived from huma...
ORGANISM(S): Homo sapiens (Human) 
2025-05-07 | PXD057586 | Pride
Human Ipsc Als Ftd Microglia Lc-ms/ms 
ProteomicsNucleocytoplasmic mRNA redistribution accompanies RNA binding protein mislocalisation in ALS motor neurons and is restored by VCP inhibition
Although the pathological hallmark of amyotrophic lateral sclerosis (ALS) is the nucleocytoplasmic mislocalisation of RNA binding proteins (RBPs), such as TDP-43 and FUS, the nucleocytoplasmic distribution of mRNA remains uncharacterised. Here, we used subcellular fractionation with RNA sequencing a...
ORGANISM(S): Homo sapiens (Human) 
2023-10-13 | PXD037107 | Pride
Human Ipsc Als Motor neuron Lc-ms/ms 
TranscriptomicsTranscriptional profiling of iPSC derived motor neurons from spinal and bulbar muscular atrophy patients at key stages motor neurogenesis
Characterise the molecular pathogenesis of androgen receptor spinal and bulbar muscular atrop (SBMA) causing repeat expansion mutations in human motor neurons generated from patient-specific spinal cord motor neurons from induced pluripotent stem cells and performed time-resolved analysis of transcr...
ORGANISM(S): Homo sapiens 
2026-08-01 | E-MTAB-15765 | biostudies-arrayexpress
TranscriptomicsCLIP-Seq of human brain and neuroblastoma sample to characterisethe RNA targets and position-dependent splicing regulation by TDP-43
iCLIP (UV-crosslinking and immunoprecipitation followed by sequencing ) analysis of TDP-43 RNA binding sites
ORGANISM(S): Homo sapiens 
2011-07-21 | E-MTAB-530 | biostudies-arrayexpress
TranscriptomicsTDP 43 Knockdown
RNA_BINDING, identify global RNA binding sites for TDP43 protein
ORGANISM(S): Homo sapiens 
2011-03-25 | E-MTAB-527 | biostudies-arrayexpress
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